Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SERPING1 (serpin family G member 1)

Identity

Alias_namesC1NH
serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
Alias_symbol (synonym)C1IN
C1-INH
HAE1
HAE2
Other aliasC1INH
HGNC (Hugo) SERPING1
LocusID (NCBI) 710
Atlas_Id 55836
Location 11q12.1  [Link to chromosome band 11q12]
Location_base_pair Starts at 57598232 and ends at 57614853 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)
ACTN4 (19q13.2) / SERPING1 (11q12.1)ALB (4q13.3) / SERPING1 (11q12.1)APLP2 (11q24.3) / SERPING1 (11q12.1)
LOC100507412 (-) / SERPING1 (11q12.1)RPA2 (1p35.3) / SERPING1 (11q12.1)SERPING1 (11q12.1) / CPNE1 (20q11.22)
SERPING1 (11q12.1) / EIF4EBP2 (10q22.1)SERPING1 (11q12.1) / ILF3 (19p13.2)SERPING1 (11q12.1) / SERPING1 (11q12.1)

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)SERPING1   1228
LRG (Locus Reference Genomic)LRG_105
Cards
Entrez_Gene (NCBI)SERPING1  710  serpin family G member 1
AliasesC1IN; C1INH; C1NH; HAE1; 
HAE2
GeneCards (Weizmann)SERPING1
Ensembl hg19 (Hinxton)ENSG00000149131 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149131 [Gene_View]  ENSG00000149131 [Sequence]  chr11:57598232-57614853 [Contig_View]  SERPING1 [Vega]
ICGC DataPortalENSG00000149131
TCGA cBioPortalSERPING1
AceView (NCBI)SERPING1
Genatlas (Paris)SERPING1
WikiGenes710
SOURCE (Princeton)SERPING1
Genetics Home Reference (NIH)SERPING1
Genomic and cartography
GoldenPath hg38 (UCSC)SERPING1  -     chr11:57598232-57614853 +  11q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SERPING1  -     11q12.1   [Description]    (hg19-Feb_2009)
EnsemblSERPING1 - 11q12.1 [CytoView hg19]  SERPING1 - 11q12.1 [CytoView hg38]
Mapping of homologs : NCBISERPING1 [Mapview hg19]  SERPING1 [Mapview hg38]
OMIM106100   120790   606860   
Gene and transcription
Genbank (Entrez)AB209826 AK293054 AK303809 AK303840 AK312626
RefSeq transcript (Entrez)NM_000062 NM_001032295
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SERPING1
Cluster EST : UnigeneHs.384598 [ NCBI ]
CGAP (NCI)Hs.384598
Alternative Splicing GalleryENSG00000149131
Gene ExpressionSERPING1 [ NCBI-GEO ]   SERPING1 [ EBI - ARRAY_EXPRESS ]   SERPING1 [ SEEK ]   SERPING1 [ MEM ]
Gene Expression Viewer (FireBrowse)SERPING1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)710
GTEX Portal (Tissue expression)SERPING1
Human Protein AtlasENSG00000149131-SERPING1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05155   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP05155  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP05155
Splice isoforms : SwissVarP05155
PhosPhoSitePlusP05155
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)  
Conserved Domain (NCBI)SERPING1
DMDM Disease mutations710
Blocks (Seattle)SERPING1
PDB (SRS)1M6Q    2OAY    5DU3    5DUQ   
PDB (PDBSum)1M6Q    2OAY    5DU3    5DUQ   
PDB (IMB)1M6Q    2OAY    5DU3    5DUQ   
PDB (RSDB)1M6Q    2OAY    5DU3    5DUQ   
Structural Biology KnowledgeBase1M6Q    2OAY    5DU3    5DUQ   
SCOP (Structural Classification of Proteins)1M6Q    2OAY    5DU3    5DUQ   
CATH (Classification of proteins structures)1M6Q    2OAY    5DU3    5DUQ   
SuperfamilyP05155
Human Protein Atlas [tissue]ENSG00000149131-SERPING1 [tissue]
Peptide AtlasP05155
HPRD06033
IPIIPI00291866   IPI00479178   IPI00879931   IPI00879796   IPI00877850   IPI00877698   IPI01015363   IPI00556459   IPI00978581   IPI00979857   
Protein Interaction databases
DIP (DOE-UCLA)P05155
IntAct (EBI)P05155
FunCoupENSG00000149131
BioGRIDSERPING1
STRING (EMBL)SERPING1
ZODIACSERPING1
Ontologies - Pathways
QuickGOP05155
Ontology : AmiGOnegative regulation of complement activation, lectin pathway  platelet degranulation  serine-type endopeptidase inhibitor activity  protein binding  extracellular region  extracellular region  extracellular space  complement activation, classical pathway  aging  blood coagulation, intrinsic pathway  blood circulation  negative regulation of endopeptidase activity  regulation of complement activation  platelet alpha granule lumen  fibrinolysis  innate immune response  extracellular exosome  blood microparticle  
Ontology : EGO-EBInegative regulation of complement activation, lectin pathway  platelet degranulation  serine-type endopeptidase inhibitor activity  protein binding  extracellular region  extracellular region  extracellular space  complement activation, classical pathway  aging  blood coagulation, intrinsic pathway  blood circulation  negative regulation of endopeptidase activity  regulation of complement activation  platelet alpha granule lumen  fibrinolysis  innate immune response  extracellular exosome  blood microparticle  
Pathways : BIOCARTAIntrinsic Prothrombin Activation Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades   
NDEx NetworkSERPING1
Atlas of Cancer Signalling NetworkSERPING1
Wikipedia pathwaysSERPING1
Orthology - Evolution
OrthoDB710
GeneTree (enSembl)ENSG00000149131
Phylogenetic Trees/Animal Genes : TreeFamSERPING1
HOVERGENP05155
HOGENOMP05155
Homologs : HomoloGeneSERPING1
Homology/Alignments : Family Browser (UCSC)SERPING1
Gene fusions - Rearrangements
Fusion : QuiverSERPING1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSERPING1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SERPING1
dbVarSERPING1
ClinVarSERPING1
1000_GenomesSERPING1 
Exome Variant ServerSERPING1
ExAC (Exome Aggregation Consortium)ENSG00000149131
GNOMAD BrowserENSG00000149131
Genetic variants : HAPMAP710
Genomic Variants (DGV)SERPING1 [DGVbeta]
DECIPHERSERPING1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSERPING1 
Mutations
ICGC Data PortalSERPING1 
TCGA Data PortalSERPING1 
Broad Tumor PortalSERPING1
OASIS PortalSERPING1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSERPING1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSERPING1
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch SERPING1
DgiDB (Drug Gene Interaction Database)SERPING1
DoCM (Curated mutations)SERPING1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SERPING1 (select a term)
intoGenSERPING1
Cancer3DSERPING1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM106100    120790    606860   
Orphanet23782    14624    14623   
DisGeNETSERPING1
MedgenSERPING1
Genetic Testing Registry SERPING1
NextProtP05155 [Medical]
TSGene710
GENETestsSERPING1
Target ValidationSERPING1
Huge Navigator SERPING1 [HugePedia]
snp3D : Map Gene to Disease710
BioCentury BCIQSERPING1
ClinGenSERPING1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD710
Chemical/Pharm GKB GenePA35029
Clinical trialSERPING1
Miscellaneous
canSAR (ICR)SERPING1 (select the gene name)
Probes
Litterature
PubMed180 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSERPING1
EVEXSERPING1
GoPubMedSERPING1
iHOPSERPING1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 22 16:49:09 CEST 2018
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