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SERPINB6 (serpin family B member 6)

Identity

Other namesCAP
DFNB91
MSTP057
PI-6
PI6
PTI
SPI3
HGNC (Hugo) SERPINB6
LocusID (NCBI) 5269
Atlas_Id 51047
Location 6p25.2
Location_base_pair Starts at 2948393 and ends at 2972399 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
LRRC41 (1p34.1) / SERPINB6 (6p25.2)SERPINB6 (6p25.2) / BASP1 (5p15.1)SERPINB6 (6p25.2) / CSH1 (17q23.3)
SERPINB6 (6p25.2) / SERPINB6 (6p25.2)

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

 


External links

Nomenclature
HGNC (Hugo)SERPINB6   8950
Cards
Entrez_Gene (NCBI)SERPINB6  5269  serpin family B member 6
AliasesCAP; DFNB91; MSTP057; PI-6; 
PI6; PTI; SPI3
GeneCards (Weizmann)SERPINB6
Ensembl hg19 (Hinxton)ENSG00000124570 [Gene_View]  chr6:2948393-2972399 [Contig_View]  SERPINB6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000124570 [Gene_View]  chr6:2948393-2972399 [Contig_View]  SERPINB6 [Vega]
ICGC DataPortalENSG00000124570
TCGA cBioPortalSERPINB6
AceView (NCBI)SERPINB6
Genatlas (Paris)SERPINB6
WikiGenes5269
SOURCE (Princeton)SERPINB6
Genomic and cartography
GoldenPath hg19 (UCSC)SERPINB6  -     chr6:2948393-2972399 -  6p25.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SERPINB6  -     6p25.2   [Description]    (hg38-Dec_2013)
EnsemblSERPINB6 - 6p25.2 [CytoView hg19]  SERPINB6 - 6p25.2 [CytoView hg38]
Mapping of homologs : NCBISERPINB6 [Mapview hg19]  SERPINB6 [Mapview hg38]
OMIM173321   613453   
Gene and transcription
Genbank (Entrez)AB209563 AF116727 AK027149 AK056729 AK057138
RefSeq transcript (Entrez)NM_001195291 NM_001271822 NM_001271823 NM_001271824 NM_001271825 NM_001297699 NM_001297700 NM_004568
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_027692 NT_007592 NW_004929326
Consensus coding sequences : CCDS (NCBI)SERPINB6
Cluster EST : UnigeneHs.731506 [ NCBI ]
CGAP (NCI)Hs.731506
Alternative Splicing GalleryENSG00000124570
Gene ExpressionSERPINB6 [ NCBI-GEO ]   SERPINB6 [ EBI - ARRAY_EXPRESS ]   SERPINB6 [ SEEK ]   SERPINB6 [ MEM ]
Gene Expression Viewer (FireBrowse)SERPINB6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5269
GTEX Portal (Tissue expression)SERPINB6
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35237 (Uniprot)
NextProtP35237  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35237
Splice isoforms : SwissVarP35237 (Swissvar)
PhosPhoSitePlusP35237
Domaine pattern : Prosite (Expaxy)SERPIN (PS00284)   
Domains : Interpro (EBI)Serpin_CS    Serpin_dom    Serpin_fam   
Domain families : Pfam (Sanger)Serpin (PF00079)   
Domain families : Pfam (NCBI)pfam00079   
Domain families : Smart (EMBL)SERPIN (SM00093)  
DMDM Disease mutations5269
Blocks (Seattle)SERPINB6
SuperfamilyP35237
Human Protein AtlasENSG00000124570
Peptide AtlasP35237
HPRD01413
IPIIPI00513699   IPI00413451   
Protein Interaction databases
DIP (DOE-UCLA)P35237
IntAct (EBI)P35237
FunCoupENSG00000124570
BioGRIDSERPINB6
STRING (EMBL)SERPINB6
ZODIACSERPINB6
Ontologies - Pathways
QuickGOP35237
Ontology : AmiGOprotease binding  serine-type endopeptidase inhibitor activity  extracellular space  nucleus  cytoplasm  cytosol  sensory perception of sound  negative regulation of endopeptidase activity  protein complex  extracellular exosome  cellular response to osmotic stress  
Ontology : EGO-EBIprotease binding  serine-type endopeptidase inhibitor activity  extracellular space  nucleus  cytoplasm  cytosol  sensory perception of sound  negative regulation of endopeptidase activity  protein complex  extracellular exosome  cellular response to osmotic stress  
Pathways : KEGGAmoebiasis   
NDEx Network
Atlas of Cancer Signalling NetworkSERPINB6
Wikipedia pathwaysSERPINB6
Orthology - Evolution
OrthoDB5269
GeneTree (enSembl)ENSG00000124570
Phylogenetic Trees/Animal Genes : TreeFamSERPINB6
Homologs : HomoloGeneSERPINB6
Homology/Alignments : Family Browser (UCSC)SERPINB6
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSERPINB6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SERPINB6
dbVarSERPINB6
ClinVarSERPINB6
1000_GenomesSERPINB6 
Exome Variant ServerSERPINB6
ExAC (Exome Aggregation Consortium)SERPINB6 (select the gene name)
Genetic variants : HAPMAP5269
Genomic Variants (DGV)SERPINB6 [DGVbeta]
Mutations
ICGC Data PortalSERPINB6 
TCGA Data PortalSERPINB6 
Broad Tumor PortalSERPINB6
OASIS PortalSERPINB6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSERPINB6 
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 SERPINB6
DgiDB (Drug Gene Interaction Database)SERPINB6
DoCM (Curated mutations)SERPINB6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SERPINB6 (select a term)
intoGenSERPINB6
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:2948393-2972399  ENSG00000124570
CONAN: Copy Number AnalysisSERPINB6 
Mutations and Diseases : HGMDSERPINB6
OMIM173321    613453   
MedgenSERPINB6
Genetic Testing Registry SERPINB6
NextProtP35237 [Medical]
TSGene5269
GENETestsSERPINB6
Huge Navigator SERPINB6 [HugePedia]
snp3D : Map Gene to Disease5269
BioCentury BCIQSERPINB6
ClinGenSERPINB6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5269
Chemical/Pharm GKB GenePA35516
Clinical trialSERPINB6
Miscellaneous
canSAR (ICR)SERPINB6 (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSERPINB6
EVEXSERPINB6
GoPubMedSERPINB6
iHOPSERPINB6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:20:35 CEST 2016

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