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DEFB129 (defensin beta 129)

Identity

Alias_namesC20orf87
chromosome 20 open reading frame 87
defensin, beta 129
Alias_symbol (synonym)bA530N10.3
DEFB-29
Other aliasDEFB29
hBD-29
HGNC (Hugo) DEFB129
LocusID (NCBI) 140881
Atlas_Id 62415
Location 20p13  [Link to chromosome band 20p13]
Location_base_pair Starts at 227258 and ends at 229886 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)

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)DEFB129   16218
Cards
Entrez_Gene (NCBI)DEFB129  140881  defensin beta 129
AliasesC20orf87; DEFB-29; DEFB29; bA530N10.3; 
hBD-29
GeneCards (Weizmann)DEFB129
Ensembl hg19 (Hinxton)ENSG00000125903 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125903 [Gene_View]  ENSG00000125903 [Sequence]  chr20:227258-229886 [Contig_View]  DEFB129 [Vega]
ICGC DataPortalENSG00000125903
TCGA cBioPortalDEFB129
AceView (NCBI)DEFB129
Genatlas (Paris)DEFB129
WikiGenes140881
SOURCE (Princeton)DEFB129
Genetics Home Reference (NIH)DEFB129
Genomic and cartography
GoldenPath hg38 (UCSC)DEFB129  -     chr20:227258-229886 +  20p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFB129  -     20p13   [Description]    (hg19-Feb_2009)
GoldenPathDEFB129 - 20p13 [CytoView hg19]  DEFB129 - 20p13 [CytoView hg38]
ImmunoBaseENSG00000125903
Mapping of homologs : NCBIDEFB129 [Mapview hg19]  DEFB129 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF525931 AF529413 AI217663 AY122480 AY358186
RefSeq transcript (Entrez)NM_080831
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFB129
Cluster EST : UnigeneHs.112087 [ NCBI ]
CGAP (NCI)Hs.112087
Alternative Splicing GalleryENSG00000125903
Gene ExpressionDEFB129 [ NCBI-GEO ]   DEFB129 [ EBI - ARRAY_EXPRESS ]   DEFB129 [ SEEK ]   DEFB129 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB129 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)140881
GTEX Portal (Tissue expression)DEFB129
Human Protein AtlasENSG00000125903-DEFB129 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H1M3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H1M3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H1M3
Splice isoforms : SwissVarQ9H1M3
PhosPhoSitePlusQ9H1M3
Domains : Interpro (EBI)Beta-defensin_129    Beta_defensin   
Domain families : Pfam (Sanger)Defensin_beta_2 (PF13841)   
Domain families : Pfam (NCBI)pfam13841   
Domain structure : Prodom (Prabi Lyon)Beta-defensin_129 (PD307569)   
Conserved Domain (NCBI)DEFB129
DMDM Disease mutations140881
Blocks (Seattle)DEFB129
SuperfamilyQ9H1M3
Human Protein Atlas [tissue]ENSG00000125903-DEFB129 [tissue]
Peptide AtlasQ9H1M3
HPRD10878
IPIIPI00015238   
Protein Interaction databases
DIP (DOE-UCLA)Q9H1M3
IntAct (EBI)Q9H1M3
FunCoupENSG00000125903
BioGRIDDEFB129
STRING (EMBL)DEFB129
ZODIACDEFB129
Ontologies - Pathways
QuickGOQ9H1M3
Ontology : AmiGOextracellular region  defense response to bacterium  innate immune response  
Ontology : EGO-EBIextracellular region  defense response to bacterium  innate immune response  
NDEx NetworkDEFB129
Atlas of Cancer Signalling NetworkDEFB129
Wikipedia pathwaysDEFB129
Orthology - Evolution
OrthoDB140881
GeneTree (enSembl)ENSG00000125903
Phylogenetic Trees/Animal Genes : TreeFamDEFB129
HOGENOMQ9H1M3
Homologs : HomoloGeneDEFB129
Homology/Alignments : Family Browser (UCSC)DEFB129
Gene fusions - Rearrangements
Fusion : QuiverDEFB129
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB129 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB129
dbVarDEFB129
ClinVarDEFB129
1000_GenomesDEFB129 
Exome Variant ServerDEFB129
ExAC (Exome Aggregation Consortium)ENSG00000125903
GNOMAD BrowserENSG00000125903
Varsome BrowserDEFB129
Genetic variants : HAPMAP140881
Genomic Variants (DGV)DEFB129 [DGVbeta]
DECIPHERDEFB129 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFB129 
Mutations
ICGC Data PortalDEFB129 
TCGA Data PortalDEFB129 
Broad Tumor PortalDEFB129
OASIS PortalDEFB129 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFB129  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDEFB129
Mutations and Diseases : HGMDDEFB129
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 DEFB129
DgiDB (Drug Gene Interaction Database)DEFB129
DoCM (Curated mutations)DEFB129 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB129 (select a term)
intoGenDEFB129
Cancer3DDEFB129(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETDEFB129
MedgenDEFB129
Genetic Testing Registry DEFB129
NextProtQ9H1M3 [Medical]
TSGene140881
GENETestsDEFB129
Target ValidationDEFB129
Huge Navigator DEFB129 [HugePedia]
snp3D : Map Gene to Disease140881
BioCentury BCIQDEFB129
ClinGenDEFB129
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD140881
Chemical/Pharm GKB GenePA27248
Clinical trialDEFB129
Miscellaneous
canSAR (ICR)DEFB129 (select the gene name)
DataMed IndexDEFB129
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB129
EVEXDEFB129
GoPubMedDEFB129
iHOPDEFB129
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 15:25:32 CEST 2019
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