Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PCSK1N (proprotein convertase subtilisin/kexin type 1 inhibitor)

Identity

Alias_symbol (synonym)SAAS
SgVIII
SCG8
proSAAS
PEN
BigLEN
Other aliasPROSAAS
HGNC (Hugo) PCSK1N
LocusID (NCBI) 27344
Atlas_Id 71775
Location Xp11.23  [Link to chromosome band Xp11]
Location_base_pair Starts at 48831092 and ends at 48835638 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)

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)PCSK1N   17301
Cards
Entrez_Gene (NCBI)PCSK1N  27344  proprotein convertase subtilisin/kexin type 1 inhibitor
AliasesBigLEN; PEN; PROSAAS; SAAS; 
SCG8; SgVIII
GeneCards (Weizmann)PCSK1N
Ensembl hg19 (Hinxton)ENSG00000102109 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102109 [Gene_View]  chrX:48831092-48835638 [Contig_View]  PCSK1N [Vega]
ICGC DataPortalENSG00000102109
TCGA cBioPortalPCSK1N
AceView (NCBI)PCSK1N
Genatlas (Paris)PCSK1N
WikiGenes27344
SOURCE (Princeton)PCSK1N
Genetics Home Reference (NIH)PCSK1N
Genomic and cartography
GoldenPath hg38 (UCSC)PCSK1N  -     chrX:48831092-48835638 -  Xp11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCSK1N  -     Xp11.23   [Description]    (hg19-Feb_2009)
EnsemblPCSK1N - Xp11.23 [CytoView hg19]  PCSK1N - Xp11.23 [CytoView hg38]
Mapping of homologs : NCBIPCSK1N [Mapview hg19]  PCSK1N [Mapview hg38]
OMIM300399   
Gene and transcription
Genbank (Entrez)AA706516 AF181562 BC002851 BC094731 BX459856
RefSeq transcript (Entrez)NM_013271
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PCSK1N
Cluster EST : UnigeneHs.522640 [ NCBI ]
CGAP (NCI)Hs.522640
Alternative Splicing GalleryENSG00000102109
Gene ExpressionPCSK1N [ NCBI-GEO ]   PCSK1N [ EBI - ARRAY_EXPRESS ]   PCSK1N [ SEEK ]   PCSK1N [ MEM ]
Gene Expression Viewer (FireBrowse)PCSK1N [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27344
GTEX Portal (Tissue expression)PCSK1N
Human Protein AtlasENSG00000102109-PCSK1N [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHG2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHG2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHG2
Splice isoforms : SwissVarQ9UHG2
PhosPhoSitePlusQ9UHG2
Domains : Interpro (EBI)ProSAAS   
Domain families : Pfam (Sanger)ProSAAS (PF07259)   
Domain families : Pfam (NCBI)pfam07259   
Conserved Domain (NCBI)PCSK1N
DMDM Disease mutations27344
Blocks (Seattle)PCSK1N
SuperfamilyQ9UHG2
Human Protein Atlas [tissue]ENSG00000102109-PCSK1N [tissue]
Peptide AtlasQ9UHG2
HPRD02320
IPIIPI00002280   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHG2
IntAct (EBI)Q9UHG2
FunCoupENSG00000102109
BioGRIDPCSK1N
STRING (EMBL)PCSK1N
ZODIACPCSK1N
Ontologies - Pathways
QuickGOQ9UHG2
Ontology : AmiGOresponse to dietary excess  endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  receptor binding  extracellular space  trans-Golgi network  neuropeptide signaling pathway  response to cold  negative regulation of endopeptidase activity  peptide hormone processing  secretory granule  extracellular exosome  
Ontology : EGO-EBIresponse to dietary excess  endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  receptor binding  extracellular space  trans-Golgi network  neuropeptide signaling pathway  response to cold  negative regulation of endopeptidase activity  peptide hormone processing  secretory granule  extracellular exosome  
NDEx NetworkPCSK1N
Atlas of Cancer Signalling NetworkPCSK1N
Wikipedia pathwaysPCSK1N
Orthology - Evolution
OrthoDB27344
GeneTree (enSembl)ENSG00000102109
Phylogenetic Trees/Animal Genes : TreeFamPCSK1N
HOVERGENQ9UHG2
HOGENOMQ9UHG2
Homologs : HomoloGenePCSK1N
Homology/Alignments : Family Browser (UCSC)PCSK1N
Gene fusions - Rearrangements
Tumor Fusion PortalPCSK1N
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCSK1N [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCSK1N
dbVarPCSK1N
ClinVarPCSK1N
1000_GenomesPCSK1N 
Exome Variant ServerPCSK1N
ExAC (Exome Aggregation Consortium)ENSG00000102109
GNOMAD BrowserENSG00000102109
Genetic variants : HAPMAP27344
Genomic Variants (DGV)PCSK1N [DGVbeta]
DECIPHERPCSK1N [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPCSK1N 
Mutations
ICGC Data PortalPCSK1N 
TCGA Data PortalPCSK1N 
Broad Tumor PortalPCSK1N
OASIS PortalPCSK1N [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCSK1N  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCSK1N
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 PCSK1N
DgiDB (Drug Gene Interaction Database)PCSK1N
DoCM (Curated mutations)PCSK1N (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCSK1N (select a term)
intoGenPCSK1N
Cancer3DPCSK1N(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300399   
Orphanet
DisGeNETPCSK1N
MedgenPCSK1N
Genetic Testing Registry PCSK1N
NextProtQ9UHG2 [Medical]
TSGene27344
GENETestsPCSK1N
Target ValidationPCSK1N
Huge Navigator PCSK1N [HugePedia]
snp3D : Map Gene to Disease27344
BioCentury BCIQPCSK1N
ClinGenPCSK1N
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27344
Chemical/Pharm GKB GenePA33090
Clinical trialPCSK1N
Miscellaneous
canSAR (ICR)PCSK1N (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCSK1N
EVEXPCSK1N
GoPubMedPCSK1N
iHOPPCSK1N
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:00:21 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.