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PRSS48 (protease, serine 48)

Identity

Alias_symbol (synonym)ESSPL
Other alias
HGNC (Hugo) PRSS48
LocusID (NCBI) 345062
Atlas_Id 72314
Location 4q31.3  [Link to chromosome band 4q31]
Location_base_pair Starts at 151277173 and ends at 151291453 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PRSS48 (4q31.3) / CRAMP1 (16p13.3)

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)PRSS48   24635
Cards
Entrez_Gene (NCBI)PRSS48  345062  protease, serine 48
AliasesESSPL
GeneCards (Weizmann)PRSS48
Ensembl hg19 (Hinxton)ENSG00000189099 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000189099 [Gene_View]  chr4:151277173-151291453 [Contig_View]  PRSS48 [Vega]
ICGC DataPortalENSG00000189099
TCGA cBioPortalPRSS48
AceView (NCBI)PRSS48
Genatlas (Paris)PRSS48
WikiGenes345062
SOURCE (Princeton)PRSS48
Genetics Home Reference (NIH)PRSS48
Genomic and cartography
GoldenPath hg38 (UCSC)PRSS48  -     chr4:151277173-151291453 +  4q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PRSS48  -     4q31.3   [Description]    (hg19-Feb_2009)
EnsemblPRSS48 - 4q31.3 [CytoView hg19]  PRSS48 - 4q31.3 [CytoView hg38]
Mapping of homologs : NCBIPRSS48 [Mapview hg19]  PRSS48 [Mapview hg38]
Gene and transcription
Genbank (Entrez)BC121109 BC121110 BN000134 HM005378
RefSeq transcript (Entrez)NM_183375
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PRSS48
Cluster EST : UnigeneHs.651266 [ NCBI ]
CGAP (NCI)Hs.651266
Alternative Splicing GalleryENSG00000189099
Gene ExpressionPRSS48 [ NCBI-GEO ]   PRSS48 [ EBI - ARRAY_EXPRESS ]   PRSS48 [ SEEK ]   PRSS48 [ MEM ]
Gene Expression Viewer (FireBrowse)PRSS48 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)345062
GTEX Portal (Tissue expression)PRSS48
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7RTY5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7RTY5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7RTY5
Splice isoforms : SwissVarQ7RTY5
Catalytic activity : Enzyme3.4.21.- [ Enzyme-Expasy ]   3.4.21.-3.4.21.- [ IntEnz-EBI ]   3.4.21.- [ BRENDA ]   3.4.21.- [ KEGG ]   
PhosPhoSitePlusQ7RTY5
Domaine pattern : Prosite (Expaxy)TRYPSIN_DOM (PS50240)    TRYPSIN_HIS (PS00134)    TRYPSIN_SER (PS00135)   
Domains : Interpro (EBI)Peptidase_S1_PA    Peptidase_S1A    Trypsin_dom    TRYPSIN_HIS    TRYPSIN_SER   
Domain families : Pfam (Sanger)Trypsin (PF00089)   
Domain families : Pfam (NCBI)pfam00089   
Domain families : Smart (EMBL)Tryp_SPc (SM00020)  
Conserved Domain (NCBI)PRSS48
DMDM Disease mutations345062
Blocks (Seattle)PRSS48
SuperfamilyQ7RTY5
Human Protein AtlasENSG00000189099
Peptide AtlasQ7RTY5
HPRD07110
IPIIPI00890746   IPI00890816   IPI00980726   
Protein Interaction databases
DIP (DOE-UCLA)Q7RTY5
IntAct (EBI)Q7RTY5
FunCoupENSG00000189099
BioGRIDPRSS48
STRING (EMBL)PRSS48
ZODIACPRSS48
Ontologies - Pathways
QuickGOQ7RTY5
Ontology : AmiGOserine-type endopeptidase activity  extracellular region  proteolysis  
Ontology : EGO-EBIserine-type endopeptidase activity  extracellular region  proteolysis  
NDEx NetworkPRSS48
Atlas of Cancer Signalling NetworkPRSS48
Wikipedia pathwaysPRSS48
Orthology - Evolution
OrthoDB345062
GeneTree (enSembl)ENSG00000189099
Phylogenetic Trees/Animal Genes : TreeFamPRSS48
HOVERGENQ7RTY5
HOGENOMQ7RTY5
Homologs : HomoloGenePRSS48
Homology/Alignments : Family Browser (UCSC)PRSS48
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRSS48 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRSS48
dbVarPRSS48
ClinVarPRSS48
1000_GenomesPRSS48 
Exome Variant ServerPRSS48
ExAC (Exome Aggregation Consortium)PRSS48 (select the gene name)
Genetic variants : HAPMAP345062
Genomic Variants (DGV)PRSS48 [DGVbeta]
DECIPHERPRSS48 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPRSS48 
Mutations
ICGC Data PortalPRSS48 
TCGA Data PortalPRSS48 
Broad Tumor PortalPRSS48
OASIS PortalPRSS48 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRSS48  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRSS48
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 PRSS48
DgiDB (Drug Gene Interaction Database)PRSS48
DoCM (Curated mutations)PRSS48 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRSS48 (select a term)
intoGenPRSS48
Cancer3DPRSS48(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenPRSS48
Genetic Testing Registry PRSS48
NextProtQ7RTY5 [Medical]
TSGene345062
GENETestsPRSS48
Huge Navigator PRSS48 [HugePedia]
snp3D : Map Gene to Disease345062
BioCentury BCIQPRSS48
ClinGenPRSS48
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD345062
Chemical/Pharm GKB GenePA165664477
Clinical trialPRSS48
Miscellaneous
canSAR (ICR)PRSS48 (select the gene name)
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRSS48
EVEXPRSS48
GoPubMedPRSS48
iHOPPRSS48
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 11:49:58 CEST 2017

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