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DEFB110 (defensin beta 110)

Identity

Alias_namesdefensin, beta 110 locus
defensin, beta 110
Alias_symbol (synonym)DEFB-10
DEFB-11
DEFB111
Other alias
HGNC (Hugo) DEFB110
LocusID (NCBI) 245913
Atlas_Id 62398
Location 6p12.3  [Link to chromosome band 6p12]
Location_base_pair Starts at 50018843 and ends at 50021981 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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(6;6)(p12;p12) DEFB110/PKHD1


External links

Nomenclature
HGNC (Hugo)DEFB110   18091
Cards
Entrez_Gene (NCBI)DEFB110  245913  defensin beta 110
AliasesDEFB-10; DEFB-11; DEFB111
GeneCards (Weizmann)DEFB110
Ensembl hg19 (Hinxton)ENSG00000203970 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000203970 [Gene_View]  ENSG00000203970 [Sequence]  chr6:50018843-50021981 [Contig_View]  DEFB110 [Vega]
ICGC DataPortalENSG00000203970
TCGA cBioPortalDEFB110
AceView (NCBI)DEFB110
Genatlas (Paris)DEFB110
WikiGenes245913
SOURCE (Princeton)DEFB110
Genetics Home Reference (NIH)DEFB110
Genomic and cartography
GoldenPath hg38 (UCSC)DEFB110  -     chr6:50018843-50021981 -  6p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFB110  -     6p12.3   [Description]    (hg19-Feb_2009)
EnsemblDEFB110 - 6p12.3 [CytoView hg19]  DEFB110 - 6p12.3 [CytoView hg38]
Mapping of homologs : NCBIDEFB110 [Mapview hg19]  DEFB110 [Mapview hg38]
Gene and transcription
Genbank (Entrez)BC141478 BC148541 BC148763 BC156744 DQ012014
RefSeq transcript (Entrez)NM_001037497 NM_001037728
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFB110
Cluster EST : UnigeneHs.571093 [ NCBI ]
CGAP (NCI)Hs.571093
Alternative Splicing GalleryENSG00000203970
Gene ExpressionDEFB110 [ NCBI-GEO ]   DEFB110 [ EBI - ARRAY_EXPRESS ]   DEFB110 [ SEEK ]   DEFB110 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB110 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)245913
GTEX Portal (Tissue expression)DEFB110
Human Protein AtlasENSG00000203970-DEFB110 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ30KQ9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ30KQ9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ30KQ9
Splice isoforms : SwissVarQ30KQ9
PhosPhoSitePlusQ30KQ9
Domains : Interpro (EBI)Beta_defensin   
Domain families : Pfam (Sanger)Defensin_beta_2 (PF13841)   
Domain families : Pfam (NCBI)pfam13841   
Domain structure : Prodom (Prabi Lyon)PD736990 (PD736990)   
Conserved Domain (NCBI)DEFB110
DMDM Disease mutations245913
Blocks (Seattle)DEFB110
SuperfamilyQ30KQ9
Human Protein Atlas [tissue]ENSG00000203970-DEFB110 [tissue]
Peptide AtlasQ30KQ9
IPIIPI00656142   IPI00656027   
Protein Interaction databases
DIP (DOE-UCLA)Q30KQ9
IntAct (EBI)Q30KQ9
FunCoupENSG00000203970
BioGRIDDEFB110
STRING (EMBL)DEFB110
ZODIACDEFB110
Ontologies - Pathways
QuickGOQ30KQ9
Ontology : AmiGOextracellular region  defense response to bacterium  innate immune response  
Ontology : EGO-EBIextracellular region  defense response to bacterium  innate immune response  
NDEx NetworkDEFB110
Atlas of Cancer Signalling NetworkDEFB110
Wikipedia pathwaysDEFB110
Orthology - Evolution
OrthoDB245913
GeneTree (enSembl)ENSG00000203970
Phylogenetic Trees/Animal Genes : TreeFamDEFB110
HOVERGENQ30KQ9
HOGENOMQ30KQ9
Homologs : HomoloGeneDEFB110
Homology/Alignments : Family Browser (UCSC)DEFB110
Gene fusions - Rearrangements
Fusion : QuiverDEFB110
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB110 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB110
dbVarDEFB110
ClinVarDEFB110
1000_GenomesDEFB110 
Exome Variant ServerDEFB110
ExAC (Exome Aggregation Consortium)ENSG00000203970
GNOMAD BrowserENSG00000203970
Varsome BrowserDEFB110
Genetic variants : HAPMAP245913
Genomic Variants (DGV)DEFB110 [DGVbeta]
DECIPHERDEFB110 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFB110 
Mutations
ICGC Data PortalDEFB110 
TCGA Data PortalDEFB110 
Broad Tumor PortalDEFB110
OASIS PortalDEFB110 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFB110  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFB110
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DEFB110
DgiDB (Drug Gene Interaction Database)DEFB110
DoCM (Curated mutations)DEFB110 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB110 (select a term)
intoGenDEFB110
Cancer3DDEFB110(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETDEFB110
MedgenDEFB110
Genetic Testing Registry DEFB110
NextProtQ30KQ9 [Medical]
TSGene245913
GENETestsDEFB110
Target ValidationDEFB110
Huge Navigator DEFB110 [HugePedia]
snp3D : Map Gene to Disease245913
BioCentury BCIQDEFB110
ClinGenDEFB110
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD245913
Chemical/Pharm GKB GenePA38487
Clinical trialDEFB110
Miscellaneous
canSAR (ICR)DEFB110 (select the gene name)
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB110
EVEXDEFB110
GoPubMedDEFB110
iHOPDEFB110
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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