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DEFB130 (defensin, beta 130)

Identity

Alias_namesdefensin, beta 130
Alias_symbol (synonym)DEFB-30
DEFB30
Other aliasDEFB130L
HGNC (Hugo) DEFB130
LocusID (NCBI) 245940
Atlas_Id 62416
Location 8p23.1  [Link to chromosome band 8p23]
Location_base_pair Starts at 11921898 and ends at 11929256 bp from pter ( according to hg19-Feb_2009)

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)DEFB130   18107
Cards
Entrez_Gene (NCBI)DEFB130  245940  defensin, beta 130
AliasesDEFB-30; DEFB130L; DEFB30
GeneCards (Weizmann)DEFB130
Ensembl hg19 (Hinxton)ENSG00000232948 [Gene_View]  chr8:11921898-11929256 [Contig_View]  DEFB130 [Vega]
Ensembl hg38 (Hinxton)ENSG00000232948 [Gene_View]  chr8:11921898-11929256 [Contig_View]  DEFB130 [Vega]
ICGC DataPortalENSG00000232948
TCGA cBioPortalDEFB130
AceView (NCBI)DEFB130
Genatlas (Paris)DEFB130
WikiGenes245940
SOURCE (Princeton)DEFB130
Genetics Home Reference (NIH)DEFB130
Genomic and cartography
GoldenPath hg19 (UCSC)DEFB130  -     chr8:11921898-11929256 -  8p23.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DEFB130  -     8p23.1   [Description]    (hg38-Dec_2013)
EnsemblDEFB130 - 8p23.1 [CytoView hg19]  DEFB130 - 8p23.1 [CytoView hg38]
Mapping of homologs : NCBIDEFB130 [Mapview hg19]  DEFB130 [Mapview hg38]
Gene and transcription
Genbank (Entrez)BC148523 BC153118 DQ012022
RefSeq transcript (Entrez)NM_001037804
RefSeq genomic (Entrez)NC_000008 NC_018919 NT_167187 NW_004929337
Consensus coding sequences : CCDS (NCBI)DEFB130
Cluster EST : UnigeneHs.581979 [ NCBI ]
CGAP (NCI)Hs.581979
Alternative Splicing GalleryENSG00000232948
Gene ExpressionDEFB130 [ NCBI-GEO ]   DEFB130 [ EBI - ARRAY_EXPRESS ]   DEFB130 [ SEEK ]   DEFB130 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB130 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)245940
GTEX Portal (Tissue expression)DEFB130
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ30KQ2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ30KQ2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ30KQ2
Splice isoforms : SwissVarQ30KQ2
PhosPhoSitePlusQ30KQ2
Domains : Interpro (EBI)Defensin_beta-typ   
Domain families : Pfam (Sanger)Defensin_beta (PF00711)   
Domain families : Pfam (NCBI)pfam00711   
Conserved Domain (NCBI)DEFB130
DMDM Disease mutations245940
Blocks (Seattle)DEFB130
SuperfamilyQ30KQ2
Human Protein AtlasENSG00000232948
Peptide AtlasQ30KQ2
Protein Interaction databases
DIP (DOE-UCLA)Q30KQ2
IntAct (EBI)Q30KQ2
FunCoupENSG00000232948
BioGRIDDEFB130
STRING (EMBL)DEFB130
ZODIACDEFB130
Ontologies - Pathways
QuickGOQ30KQ2
Ontology : AmiGOextracellular region  defense response to bacterium  
Ontology : EGO-EBIextracellular region  defense response to bacterium  
NDEx NetworkDEFB130
Atlas of Cancer Signalling NetworkDEFB130
Wikipedia pathwaysDEFB130
Orthology - Evolution
OrthoDB245940
GeneTree (enSembl)ENSG00000232948
Phylogenetic Trees/Animal Genes : TreeFamDEFB130
HOVERGENQ30KQ2
HOGENOMQ30KQ2
Homologs : HomoloGeneDEFB130
Homology/Alignments : Family Browser (UCSC)DEFB130
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB130 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB130
dbVarDEFB130
ClinVarDEFB130
1000_GenomesDEFB130 
Exome Variant ServerDEFB130
ExAC (Exome Aggregation Consortium)DEFB130 (select the gene name)
Genetic variants : HAPMAP245940
Genomic Variants (DGV)DEFB130 [DGVbeta]
DECIPHER (Syndromes)8:11921898-11929256  ENSG00000232948
CONAN: Copy Number AnalysisDEFB130 
Mutations
ICGC Data PortalDEFB130 
TCGA Data PortalDEFB130 
Broad Tumor PortalDEFB130
OASIS PortalDEFB130 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFB130  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFB130
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DEFB130
DgiDB (Drug Gene Interaction Database)DEFB130
DoCM (Curated mutations)DEFB130 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB130 (select a term)
intoGenDEFB130
Cancer3DDEFB130(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenDEFB130
Genetic Testing Registry DEFB130
NextProtQ30KQ2 [Medical]
TSGene245940
GENETestsDEFB130
Huge Navigator DEFB130 [HugePedia]
snp3D : Map Gene to Disease245940
BioCentury BCIQDEFB130
ClinGenDEFB130
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD245940
Chemical/Pharm GKB GenePA38503
Clinical trialDEFB130
Miscellaneous
canSAR (ICR)DEFB130 (select the gene name)
Probes
Litterature
PubMed2 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB130
EVEXDEFB130
GoPubMedDEFB130
iHOPDEFB130
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:01:26 CET 2017

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