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DEFB127 (defensin beta 127)

Identity

Alias_namesC20orf73
chromosome 20 open reading frame 73
defensin, beta 127
Alias_symbol (synonym)bA530N10.2
DEF-27
Other aliasDEFB-27
DEFB27
hBD-27
HGNC (Hugo) DEFB127
LocusID (NCBI) 140850
Atlas_Id 62413
Location 20p13  [Link to chromosome band 20p13]
Location_base_pair Starts at 157470 and ends at 159163 bp from pter ( according to hg38-Dec_2013)

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)DEFB127   16206
Cards
Entrez_Gene (NCBI)DEFB127  140850  defensin beta 127
AliasesC20orf73; DEF-27; DEFB-27; DEFB27; 
bA530N10.2; hBD-27
GeneCards (Weizmann)DEFB127
Ensembl hg19 (Hinxton)ENSG00000088782 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000088782 [Gene_View]  chr20:157470-159163 [Contig_View]  DEFB127 [Vega]
ICGC DataPortalENSG00000088782
TCGA cBioPortalDEFB127
AceView (NCBI)DEFB127
Genatlas (Paris)DEFB127
WikiGenes140850
SOURCE (Princeton)DEFB127
Genetics Home Reference (NIH)DEFB127
Genomic and cartography
GoldenPath hg38 (UCSC)DEFB127  -     chr20:157470-159163 +  20p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFB127  -     20p13   [Description]    (hg19-Feb_2009)
EnsemblDEFB127 - 20p13 [CytoView hg19]  DEFB127 - 20p13 [CytoView hg38]
Mapping of homologs : NCBIDEFB127 [Mapview hg19]  DEFB127 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA454191 AF525929 AY122479 AY358796 BC069486
RefSeq transcript (Entrez)NM_139074
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFB127
Cluster EST : UnigeneHs.99362 [ NCBI ]
CGAP (NCI)Hs.99362
Alternative Splicing GalleryENSG00000088782
Gene ExpressionDEFB127 [ NCBI-GEO ]   DEFB127 [ EBI - ARRAY_EXPRESS ]   DEFB127 [ SEEK ]   DEFB127 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB127 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)140850
GTEX Portal (Tissue expression)DEFB127
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H1M4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H1M4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H1M4
Splice isoforms : SwissVarQ9H1M4
PhosPhoSitePlusQ9H1M4
Domains : Interpro (EBI)Beta_defensin   
Domain families : Pfam (Sanger)Defensin_beta_2 (PF13841)   
Domain families : Pfam (NCBI)pfam13841   
Domain structure : Prodom (Prabi Lyon)PD866254 (PD866254)   
Conserved Domain (NCBI)DEFB127
DMDM Disease mutations140850
Blocks (Seattle)DEFB127
SuperfamilyQ9H1M4
Human Protein AtlasENSG00000088782
Peptide AtlasQ9H1M4
HPRD10877
IPIIPI00030785   
Protein Interaction databases
DIP (DOE-UCLA)Q9H1M4
IntAct (EBI)Q9H1M4
FunCoupENSG00000088782
BioGRIDDEFB127
STRING (EMBL)DEFB127
ZODIACDEFB127
Ontologies - Pathways
QuickGOQ9H1M4
Ontology : AmiGOprotein binding  cellular_component  extracellular region  defense response to bacterium  innate immune response  
Ontology : EGO-EBIprotein binding  cellular_component  extracellular region  defense response to bacterium  innate immune response  
NDEx NetworkDEFB127
Atlas of Cancer Signalling NetworkDEFB127
Wikipedia pathwaysDEFB127
Orthology - Evolution
OrthoDB140850
GeneTree (enSembl)ENSG00000088782
Phylogenetic Trees/Animal Genes : TreeFamDEFB127
HOVERGENQ9H1M4
HOGENOMQ9H1M4
Homologs : HomoloGeneDEFB127
Homology/Alignments : Family Browser (UCSC)DEFB127
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB127 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB127
dbVarDEFB127
ClinVarDEFB127
1000_GenomesDEFB127 
Exome Variant ServerDEFB127
ExAC (Exome Aggregation Consortium)DEFB127 (select the gene name)
Genetic variants : HAPMAP140850
Genomic Variants (DGV)DEFB127 [DGVbeta]
DECIPHERDEFB127 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFB127 
Mutations
ICGC Data PortalDEFB127 
TCGA Data PortalDEFB127 
Broad Tumor PortalDEFB127
OASIS PortalDEFB127 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFB127  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFB127
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 DEFB127
DgiDB (Drug Gene Interaction Database)DEFB127
DoCM (Curated mutations)DEFB127 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB127 (select a term)
intoGenDEFB127
Cancer3DDEFB127(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenDEFB127
Genetic Testing Registry DEFB127
NextProtQ9H1M4 [Medical]
TSGene140850
GENETestsDEFB127
Target ValidationDEFB127
Huge Navigator DEFB127 [HugePedia]
snp3D : Map Gene to Disease140850
BioCentury BCIQDEFB127
ClinGenDEFB127
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD140850
Chemical/Pharm GKB GenePA27247
Clinical trialDEFB127
Miscellaneous
canSAR (ICR)DEFB127 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB127
EVEXDEFB127
GoPubMedDEFB127
iHOPDEFB127
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:45:40 CEST 2017

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