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DEFB112 (defensin beta 112)

Identity

Alias_namesdefensin, beta 112
Alias_symbol (synonym)DEFB-12
Other alias
HGNC (Hugo) DEFB112
LocusID (NCBI) 245915
Atlas_Id 62399
Location 6p12.3  [Link to chromosome band 6p12]
Location_base_pair Starts at 50043575 and ends at 50048651 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)DEFB112   18093
Cards
Entrez_Gene (NCBI)DEFB112  245915  defensin beta 112
AliasesDEFB-12
GeneCards (Weizmann)DEFB112
Ensembl hg19 (Hinxton)ENSG00000180872 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000180872 [Gene_View]  ENSG00000180872 [Sequence]  chr6:50043575-50048651 [Contig_View]  DEFB112 [Vega]
ICGC DataPortalENSG00000180872
TCGA cBioPortalDEFB112
AceView (NCBI)DEFB112
Genatlas (Paris)DEFB112
WikiGenes245915
SOURCE (Princeton)DEFB112
Genetics Home Reference (NIH)DEFB112
Genomic and cartography
GoldenPath hg38 (UCSC)DEFB112  -     chr6:50043575-50048651 -  6p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFB112  -     6p12.3   [Description]    (hg19-Feb_2009)
EnsemblDEFB112 - 6p12.3 [CytoView hg19]  DEFB112 - 6p12.3 [CytoView hg38]
Mapping of homologs : NCBIDEFB112 [Mapview hg19]  DEFB112 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AY122469 BC141479 BC148764 DQ012016
RefSeq transcript (Entrez)NM_001037498
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFB112
Cluster EST : UnigeneHs.571092 [ NCBI ]
CGAP (NCI)Hs.571092
Alternative Splicing GalleryENSG00000180872
Gene ExpressionDEFB112 [ NCBI-GEO ]   DEFB112 [ EBI - ARRAY_EXPRESS ]   DEFB112 [ SEEK ]   DEFB112 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB112 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)245915
GTEX Portal (Tissue expression)DEFB112
Human Protein AtlasENSG00000180872-DEFB112 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ30KQ8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ30KQ8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ30KQ8
Splice isoforms : SwissVarQ30KQ8
PhosPhoSitePlusQ30KQ8
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)DEFB112
DMDM Disease mutations245915
Blocks (Seattle)DEFB112
SuperfamilyQ30KQ8
Human Protein Atlas [tissue]ENSG00000180872-DEFB112 [tissue]
Peptide AtlasQ30KQ8
HPRD18757
IPIIPI00302567   
Protein Interaction databases
DIP (DOE-UCLA)Q30KQ8
IntAct (EBI)Q30KQ8
FunCoupENSG00000180872
BioGRIDDEFB112
STRING (EMBL)DEFB112
ZODIACDEFB112
Ontologies - Pathways
QuickGOQ30KQ8
Ontology : AmiGOextracellular region  defense response to bacterium  innate immune response  
Ontology : EGO-EBIextracellular region  defense response to bacterium  innate immune response  
NDEx NetworkDEFB112
Atlas of Cancer Signalling NetworkDEFB112
Wikipedia pathwaysDEFB112
Orthology - Evolution
OrthoDB245915
GeneTree (enSembl)ENSG00000180872
Phylogenetic Trees/Animal Genes : TreeFamDEFB112
HOVERGENQ30KQ8
HOGENOMQ30KQ8
Homologs : HomoloGeneDEFB112
Homology/Alignments : Family Browser (UCSC)DEFB112
Gene fusions - Rearrangements
Fusion : QuiverDEFB112
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB112 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB112
dbVarDEFB112
ClinVarDEFB112
1000_GenomesDEFB112 
Exome Variant ServerDEFB112
ExAC (Exome Aggregation Consortium)ENSG00000180872
GNOMAD BrowserENSG00000180872
Varsome BrowserDEFB112
Genetic variants : HAPMAP245915
Genomic Variants (DGV)DEFB112 [DGVbeta]
DECIPHERDEFB112 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFB112 
Mutations
ICGC Data PortalDEFB112 
TCGA Data PortalDEFB112 
Broad Tumor PortalDEFB112
OASIS PortalDEFB112 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFB112  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFB112
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DEFB112
DgiDB (Drug Gene Interaction Database)DEFB112
DoCM (Curated mutations)DEFB112 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB112 (select a term)
intoGenDEFB112
Cancer3DDEFB112(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETDEFB112
MedgenDEFB112
Genetic Testing Registry DEFB112
NextProtQ30KQ8 [Medical]
TSGene245915
GENETestsDEFB112
Target ValidationDEFB112
Huge Navigator DEFB112 [HugePedia]
snp3D : Map Gene to Disease245915
BioCentury BCIQDEFB112
ClinGenDEFB112
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD245915
Chemical/Pharm GKB GenePA38489
Clinical trialDEFB112
Miscellaneous
canSAR (ICR)DEFB112 (select the gene name)
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB112
EVEXDEFB112
GoPubMedDEFB112
iHOPDEFB112
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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