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DEFB119 (defensin beta 119)

Identity

Alias_namesDEFB120
defensin, beta 120
defensin, beta 119
Alias_symbol (synonym)DEFB-19
DEFB-20
Other aliasDEFB20
ESC42-RELA
ESC42-RELB
HGNC (Hugo) DEFB119
LocusID (NCBI) 245932
Atlas_Id 62406
Location 20q11.21  [Link to chromosome band 20q11]
Location_base_pair Starts at 31388968 and ends at 31390649 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MARCH8 (10q11.21) / DEFB119 (20q11.21)

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)DEFB119   18099
Cards
Entrez_Gene (NCBI)DEFB119  245932  defensin beta 119
AliasesDEFB-19; DEFB-20; DEFB120; DEFB20; 
ESC42-RELA; ESC42-RELB
GeneCards (Weizmann)DEFB119
Ensembl hg19 (Hinxton)ENSG00000180483 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000180483 [Gene_View]  chr20:31388968-31390649 [Contig_View]  DEFB119 [Vega]
ICGC DataPortalENSG00000180483
TCGA cBioPortalDEFB119
AceView (NCBI)DEFB119
Genatlas (Paris)DEFB119
WikiGenes245932
SOURCE (Princeton)DEFB119
Genetics Home Reference (NIH)DEFB119
Genomic and cartography
GoldenPath hg38 (UCSC)DEFB119  -     chr20:31388968-31390649 -  20q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFB119  -     20q11.21   [Description]    (hg19-Feb_2009)
EnsemblDEFB119 - 20q11.21 [CytoView hg19]  DEFB119 - 20q11.21 [CytoView hg38]
Mapping of homologs : NCBIDEFB119 [Mapview hg19]  DEFB119 [Mapview hg38]
OMIM615997   
Gene and transcription
Genbank (Entrez)AF479698 AF479699 AL732301 AW003815 AY122472
RefSeq transcript (Entrez)NM_001271209 NM_153289 NM_153323
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFB119
Cluster EST : UnigeneHs.743655 [ NCBI ]
CGAP (NCI)Hs.743655
Alternative Splicing GalleryENSG00000180483
Gene ExpressionDEFB119 [ NCBI-GEO ]   DEFB119 [ EBI - ARRAY_EXPRESS ]   DEFB119 [ SEEK ]   DEFB119 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB119 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)245932
GTEX Portal (Tissue expression)DEFB119
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N690   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N690  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N690
Splice isoforms : SwissVarQ8N690
PhosPhoSitePlusQ8N690
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)DEFB119
DMDM Disease mutations245932
Blocks (Seattle)DEFB119
SuperfamilyQ8N690
Human Protein AtlasENSG00000180483
Peptide AtlasQ8N690
HPRD10873
IPIIPI00166964   IPI00166963   IPI00413902   
Protein Interaction databases
DIP (DOE-UCLA)Q8N690
IntAct (EBI)Q8N690
FunCoupENSG00000180483
BioGRIDDEFB119
STRING (EMBL)DEFB119
ZODIACDEFB119
Ontologies - Pathways
QuickGOQ8N690
Ontology : AmiGOextracellular region  defense response to bacterium  innate immune response  
Ontology : EGO-EBIextracellular region  defense response to bacterium  innate immune response  
NDEx NetworkDEFB119
Atlas of Cancer Signalling NetworkDEFB119
Wikipedia pathwaysDEFB119
Orthology - Evolution
OrthoDB245932
GeneTree (enSembl)ENSG00000180483
Phylogenetic Trees/Animal Genes : TreeFamDEFB119
HOVERGENQ8N690
HOGENOMQ8N690
Homologs : HomoloGeneDEFB119
Homology/Alignments : Family Browser (UCSC)DEFB119
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB119 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB119
dbVarDEFB119
ClinVarDEFB119
1000_GenomesDEFB119 
Exome Variant ServerDEFB119
ExAC (Exome Aggregation Consortium)DEFB119 (select the gene name)
Genetic variants : HAPMAP245932
Genomic Variants (DGV)DEFB119 [DGVbeta]
DECIPHERDEFB119 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFB119 
Mutations
ICGC Data PortalDEFB119 
TCGA Data PortalDEFB119 
Broad Tumor PortalDEFB119
OASIS PortalDEFB119 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFB119  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFB119
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 DEFB119
DgiDB (Drug Gene Interaction Database)DEFB119
DoCM (Curated mutations)DEFB119 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB119 (select a term)
intoGenDEFB119
Cancer3DDEFB119(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615997   
Orphanet
MedgenDEFB119
Genetic Testing Registry DEFB119
NextProtQ8N690 [Medical]
TSGene245932
GENETestsDEFB119
Target ValidationDEFB119
Huge Navigator DEFB119 [HugePedia]
snp3D : Map Gene to Disease245932
BioCentury BCIQDEFB119
ClinGenDEFB119
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD245932
Chemical/Pharm GKB GenePA38495
Clinical trialDEFB119
Miscellaneous
canSAR (ICR)DEFB119 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB119
EVEXDEFB119
GoPubMedDEFB119
iHOPDEFB119
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 15:45:38 CEST 2017

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