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DEFB116 (defensin beta 116)

Identity

Alias_namesdefensin, beta 116
Alias_symbol (synonym)DEFB-16
Other alias
HGNC (Hugo) DEFB116
LocusID (NCBI) 245930
Atlas_Id 62403
Location 20q11.21  [Link to chromosome band 20q11]
Location_base_pair Starts at 31303212 and ends at 31308585 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)DEFB116   18097
Cards
Entrez_Gene (NCBI)DEFB116  245930  defensin beta 116
AliasesDEFB-16
GeneCards (Weizmann)DEFB116
Ensembl hg19 (Hinxton)ENSG00000215545 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000215545 [Gene_View]  chr20:31303212-31308585 [Contig_View]  DEFB116 [Vega]
ICGC DataPortalENSG00000215545
TCGA cBioPortalDEFB116
AceView (NCBI)DEFB116
Genatlas (Paris)DEFB116
WikiGenes245930
SOURCE (Princeton)DEFB116
Genetics Home Reference (NIH)DEFB116
Genomic and cartography
GoldenPath hg38 (UCSC)DEFB116  -     chr20:31303212-31308585 -  20q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFB116  -     20q11.21   [Description]    (hg19-Feb_2009)
EnsemblDEFB116 - 20q11.21 [CytoView hg19]  DEFB116 - 20q11.21 [CytoView hg38]
Mapping of homologs : NCBIDEFB116 [Mapview hg19]  DEFB116 [Mapview hg38]
Gene and transcription
Genbank (Entrez)BC148545 BC153134 DQ012020
RefSeq transcript (Entrez)NM_001037731
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFB116
Cluster EST : UnigeneHs.580703 [ NCBI ]
CGAP (NCI)Hs.580703
Alternative Splicing GalleryENSG00000215545
Gene ExpressionDEFB116 [ NCBI-GEO ]   DEFB116 [ EBI - ARRAY_EXPRESS ]   DEFB116 [ SEEK ]   DEFB116 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB116 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)245930
GTEX Portal (Tissue expression)DEFB116
Human Protein AtlasENSG00000215545-DEFB116 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ30KQ4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ30KQ4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ30KQ4
Splice isoforms : SwissVarQ30KQ4
PhosPhoSitePlusQ30KQ4
Domains : Interpro (EBI)Beta_defensin   
Domain families : Pfam (Sanger)Defensin_beta_2 (PF13841)   
Domain families : Pfam (NCBI)pfam13841   
Domain structure : Prodom (Prabi Lyon)PD866254 (PD866254)   
Conserved Domain (NCBI)DEFB116
DMDM Disease mutations245930
Blocks (Seattle)DEFB116
SuperfamilyQ30KQ4
Human Protein Atlas [tissue]ENSG00000215545-DEFB116 [tissue]
Peptide AtlasQ30KQ4
IPIIPI00655746   
Protein Interaction databases
DIP (DOE-UCLA)Q30KQ4
IntAct (EBI)Q30KQ4
FunCoupENSG00000215545
BioGRIDDEFB116
STRING (EMBL)DEFB116
ZODIACDEFB116
Ontologies - Pathways
QuickGOQ30KQ4
Ontology : AmiGOextracellular region  defense response to bacterium  innate immune response  
Ontology : EGO-EBIextracellular region  defense response to bacterium  innate immune response  
NDEx NetworkDEFB116
Atlas of Cancer Signalling NetworkDEFB116
Wikipedia pathwaysDEFB116
Orthology - Evolution
OrthoDB245930
GeneTree (enSembl)ENSG00000215545
Phylogenetic Trees/Animal Genes : TreeFamDEFB116
HOVERGENQ30KQ4
HOGENOMQ30KQ4
Homologs : HomoloGeneDEFB116
Homology/Alignments : Family Browser (UCSC)DEFB116
Gene fusions - Rearrangements
Tumor Fusion PortalDEFB116
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB116 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB116
dbVarDEFB116
ClinVarDEFB116
1000_GenomesDEFB116 
Exome Variant ServerDEFB116
ExAC (Exome Aggregation Consortium)ENSG00000215545
GNOMAD BrowserENSG00000215545
Genetic variants : HAPMAP245930
Genomic Variants (DGV)DEFB116 [DGVbeta]
DECIPHERDEFB116 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFB116 
Mutations
ICGC Data PortalDEFB116 
TCGA Data PortalDEFB116 
Broad Tumor PortalDEFB116
OASIS PortalDEFB116 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFB116  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFB116
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DEFB116
DgiDB (Drug Gene Interaction Database)DEFB116
DoCM (Curated mutations)DEFB116 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB116 (select a term)
intoGenDEFB116
Cancer3DDEFB116(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETDEFB116
MedgenDEFB116
Genetic Testing Registry DEFB116
NextProtQ30KQ4 [Medical]
TSGene245930
GENETestsDEFB116
Target ValidationDEFB116
Huge Navigator DEFB116 [HugePedia]
snp3D : Map Gene to Disease245930
BioCentury BCIQDEFB116
ClinGenDEFB116
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD245930
Chemical/Pharm GKB GenePA38493
Clinical trialDEFB116
Miscellaneous
canSAR (ICR)DEFB116 (select the gene name)
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB116
EVEXDEFB116
GoPubMedDEFB116
iHOPDEFB116
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:41:22 CET 2017

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