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DEFB130A (defensin beta 130A)

Identity

Alias_namesDEFB130
defensin, beta 130
defensin beta 130
Alias_symbol (synonym)DEFB-30
DEFB30
Other aliasDEFB130L
HGNC (Hugo) DEFB130A
LocusID (NCBI) 245940
Atlas_Id 79936
Location 8p23.1  [Link to chromosome band 8p23]
Location_base_pair Starts at 12064389 and ends at 12071747 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


External links

Nomenclature
HGNC (Hugo)DEFB130A   18107
Cards
Entrez_Gene (NCBI)DEFB130A  245940  defensin beta 130A
AliasesDEFB-30; DEFB130; DEFB130L; DEFB30
GeneCards (Weizmann)DEFB130A
Ensembl hg19 (Hinxton)ENSG00000232948 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000232948 [Gene_View]  ENSG00000232948 [Sequence]  chr8:12064389-12071747 [Contig_View]  DEFB130A [Vega]
ICGC DataPortalENSG00000232948
TCGA cBioPortalDEFB130A
AceView (NCBI)DEFB130A
Genatlas (Paris)DEFB130A
WikiGenes245940
SOURCE (Princeton)DEFB130A
Genetics Home Reference (NIH)DEFB130A
Genomic and cartography
GoldenPath hg38 (UCSC)DEFB130A  -     chr8:12064389-12071747 -  8p23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFB130A  -     8p23.1   [Description]    (hg19-Feb_2009)
GoldenPathDEFB130A - 8p23.1 [CytoView hg19]  DEFB130A - 8p23.1 [CytoView hg38]
ImmunoBaseENSG00000232948
Mapping of homologs : NCBIDEFB130A [Mapview hg19]  DEFB130A [Mapview hg38]
Gene and transcription
Genbank (Entrez)DQ012022
RefSeq transcript (Entrez)NM_001037804
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFB130A
Cluster EST : UnigeneHs.581979 [ NCBI ]
CGAP (NCI)Hs.581979
Alternative Splicing GalleryENSG00000232948
Gene ExpressionDEFB130A [ NCBI-GEO ]   DEFB130A [ EBI - ARRAY_EXPRESS ]   DEFB130A [ SEEK ]   DEFB130A [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB130A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)245940
GTEX Portal (Tissue expression)DEFB130A
Human Protein AtlasENSG00000232948-DEFB130A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP0DP74   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP0DP74  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP0DP74
Splice isoforms : SwissVarP0DP74
PhosPhoSitePlusP0DP74
Domains : Interpro (EBI)Defensin_beta-typ   
Domain families : Pfam (Sanger)Defensin_beta (PF00711)   
Domain families : Pfam (NCBI)pfam00711   
Conserved Domain (NCBI)DEFB130A
DMDM Disease mutations245940
Blocks (Seattle)DEFB130A
SuperfamilyP0DP74
Human Protein Atlas [tissue]ENSG00000232948-DEFB130A [tissue]
Peptide AtlasP0DP74
Protein Interaction databases
DIP (DOE-UCLA)P0DP74
IntAct (EBI)P0DP74
FunCoupENSG00000232948
BioGRIDDEFB130A
STRING (EMBL)DEFB130A
ZODIACDEFB130A
Ontologies - Pathways
QuickGOP0DP74
Ontology : AmiGOextracellular region  defense response to bacterium  
Ontology : EGO-EBIextracellular region  defense response to bacterium  
NDEx NetworkDEFB130A
Atlas of Cancer Signalling NetworkDEFB130A
Wikipedia pathwaysDEFB130A
Orthology - Evolution
OrthoDB245940
GeneTree (enSembl)ENSG00000232948
Phylogenetic Trees/Animal Genes : TreeFamDEFB130A
HOGENOMP0DP74
Homologs : HomoloGeneDEFB130A
Homology/Alignments : Family Browser (UCSC)DEFB130A
Gene fusions - Rearrangements
Fusion : QuiverDEFB130A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB130A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB130A
dbVarDEFB130A
ClinVarDEFB130A
1000_GenomesDEFB130A 
Exome Variant ServerDEFB130A
ExAC (Exome Aggregation Consortium)ENSG00000232948
GNOMAD BrowserENSG00000232948
Varsome BrowserDEFB130A
Genetic variants : HAPMAP245940
Genomic Variants (DGV)DEFB130A [DGVbeta]
DECIPHERDEFB130A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFB130A 
Mutations
ICGC Data PortalDEFB130A 
TCGA Data PortalDEFB130A 
Broad Tumor PortalDEFB130A
OASIS PortalDEFB130A [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDDEFB130A
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 DEFB130A
DgiDB (Drug Gene Interaction Database)DEFB130A
DoCM (Curated mutations)DEFB130A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB130A (select a term)
intoGenDEFB130A
Cancer3DDEFB130A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETDEFB130A
MedgenDEFB130A
Genetic Testing Registry DEFB130A
NextProtP0DP74 [Medical]
TSGene245940
GENETestsDEFB130A
Target ValidationDEFB130A
Huge Navigator DEFB130A [HugePedia]
snp3D : Map Gene to Disease245940
BioCentury BCIQDEFB130A
ClinGenDEFB130A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD245940
Chemical/Pharm GKB GenePA38503
Clinical trialDEFB130A
Miscellaneous
canSAR (ICR)DEFB130A (select the gene name)
DataMed IndexDEFB130A
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB130A
EVEXDEFB130A
GoPubMedDEFB130A
iHOPDEFB130A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 12 16:11:02 CEST 2019

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