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DEFB113 (defensin beta 113)

Identity

Alias_namesdefensin, beta 113
Alias_symbol (synonym)DEFB-13
Other alias
HGNC (Hugo) DEFB113
LocusID (NCBI) 245927
Atlas_Id 62400
Location 6p12.3  [Link to chromosome band 6p12]
Location_base_pair Starts at 49968677 and ends at 49969625 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)DEFB113   18094
Cards
Entrez_Gene (NCBI)DEFB113  245927  defensin beta 113
AliasesDEFB-13
GeneCards (Weizmann)DEFB113
Ensembl hg19 (Hinxton)ENSG00000214642 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000214642 [Gene_View]  ENSG00000214642 [Sequence]  chr6:49968677-49969625 [Contig_View]  DEFB113 [Vega]
ICGC DataPortalENSG00000214642
TCGA cBioPortalDEFB113
AceView (NCBI)DEFB113
Genatlas (Paris)DEFB113
WikiGenes245927
SOURCE (Princeton)DEFB113
Genetics Home Reference (NIH)DEFB113
Genomic and cartography
GoldenPath hg38 (UCSC)DEFB113  -     chr6:49968677-49969625 -  6p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFB113  -     6p12.3   [Description]    (hg19-Feb_2009)
EnsemblDEFB113 - 6p12.3 [CytoView hg19]  DEFB113 - 6p12.3 [CytoView hg38]
Mapping of homologs : NCBIDEFB113 [Mapview hg19]  DEFB113 [Mapview hg38]
Gene and transcription
Genbank (Entrez)BC141480 BC153175 DQ012017
RefSeq transcript (Entrez)NM_001037729
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFB113
Cluster EST : UnigeneHs.582789 [ NCBI ]
CGAP (NCI)Hs.582789
Alternative Splicing GalleryENSG00000214642
Gene ExpressionDEFB113 [ NCBI-GEO ]   DEFB113 [ EBI - ARRAY_EXPRESS ]   DEFB113 [ SEEK ]   DEFB113 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB113 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)245927
GTEX Portal (Tissue expression)DEFB113
Human Protein AtlasENSG00000214642-DEFB113 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ30KQ7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ30KQ7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ30KQ7
Splice isoforms : SwissVarQ30KQ7
PhosPhoSitePlusQ30KQ7
Domains : Interpro (EBI)Beta_defensin   
Domain families : Pfam (Sanger)Defensin_beta_2 (PF13841)   
Domain families : Pfam (NCBI)pfam13841   
Conserved Domain (NCBI)DEFB113
DMDM Disease mutations245927
Blocks (Seattle)DEFB113
SuperfamilyQ30KQ7
Human Protein Atlas [tissue]ENSG00000214642-DEFB113 [tissue]
Peptide AtlasQ30KQ7
IPIIPI00655551   
Protein Interaction databases
DIP (DOE-UCLA)Q30KQ7
IntAct (EBI)Q30KQ7
FunCoupENSG00000214642
BioGRIDDEFB113
STRING (EMBL)DEFB113
ZODIACDEFB113
Ontologies - Pathways
QuickGOQ30KQ7
Ontology : AmiGOextracellular region  defense response to bacterium  innate immune response  
Ontology : EGO-EBIextracellular region  defense response to bacterium  innate immune response  
NDEx NetworkDEFB113
Atlas of Cancer Signalling NetworkDEFB113
Wikipedia pathwaysDEFB113
Orthology - Evolution
OrthoDB245927
GeneTree (enSembl)ENSG00000214642
Phylogenetic Trees/Animal Genes : TreeFamDEFB113
HOVERGENQ30KQ7
HOGENOMQ30KQ7
Homologs : HomoloGeneDEFB113
Homology/Alignments : Family Browser (UCSC)DEFB113
Gene fusions - Rearrangements
Fusion : QuiverDEFB113
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB113 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB113
dbVarDEFB113
ClinVarDEFB113
1000_GenomesDEFB113 
Exome Variant ServerDEFB113
ExAC (Exome Aggregation Consortium)ENSG00000214642
GNOMAD BrowserENSG00000214642
Varsome BrowserDEFB113
Genetic variants : HAPMAP245927
Genomic Variants (DGV)DEFB113 [DGVbeta]
DECIPHERDEFB113 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFB113 
Mutations
ICGC Data PortalDEFB113 
TCGA Data PortalDEFB113 
Broad Tumor PortalDEFB113
OASIS PortalDEFB113 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFB113  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFB113
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DEFB113
DgiDB (Drug Gene Interaction Database)DEFB113
DoCM (Curated mutations)DEFB113 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB113 (select a term)
intoGenDEFB113
Cancer3DDEFB113(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETDEFB113
MedgenDEFB113
Genetic Testing Registry DEFB113
NextProtQ30KQ7 [Medical]
TSGene245927
GENETestsDEFB113
Target ValidationDEFB113
Huge Navigator DEFB113 [HugePedia]
snp3D : Map Gene to Disease245927
BioCentury BCIQDEFB113
ClinGenDEFB113
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD245927
Chemical/Pharm GKB GenePA38490
Clinical trialDEFB113
Miscellaneous
canSAR (ICR)DEFB113 (select the gene name)
Probes
Litterature
PubMed2 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB113
EVEXDEFB113
GoPubMedDEFB113
iHOPDEFB113
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 13:42:26 CEST 2018

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