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DEFB133 (defensin beta 133)

Identity

Alias_namesdefensin, beta 133
Other alias-
HGNC (Hugo) DEFB133
LocusID (NCBI) 403339
Atlas_Id 62419
Location 6p12.3  [Link to chromosome band 6p12]
Location_base_pair Starts at 49946101 and ends at 49949444 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)DEFB133   31331
Cards
Entrez_Gene (NCBI)DEFB133  403339  defensin beta 133
Aliases
GeneCards (Weizmann)DEFB133
Ensembl hg19 (Hinxton)ENSG00000214643 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000214643 [Gene_View]  ENSG00000214643 [Sequence]  chr6:49946101-49949444 [Contig_View]  DEFB133 [Vega]
ICGC DataPortalENSG00000214643
TCGA cBioPortalDEFB133
AceView (NCBI)DEFB133
Genatlas (Paris)DEFB133
WikiGenes403339
SOURCE (Princeton)DEFB133
Genetics Home Reference (NIH)DEFB133
Genomic and cartography
GoldenPath hg38 (UCSC)DEFB133  -     chr6:49946101-49949444 -  6p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFB133  -     6p12.3   [Description]    (hg19-Feb_2009)
EnsemblDEFB133 - 6p12.3 [CytoView hg19]  DEFB133 - 6p12.3 [CytoView hg38]
Mapping of homologs : NCBIDEFB133 [Mapview hg19]  DEFB133 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AY621330 DQ012023
RefSeq transcript (Entrez)NM_001166478
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFB133
Cluster EST : UnigeneHs.745543 [ NCBI ]
CGAP (NCI)Hs.745543
Alternative Splicing GalleryENSG00000214643
Gene ExpressionDEFB133 [ NCBI-GEO ]   DEFB133 [ EBI - ARRAY_EXPRESS ]   DEFB133 [ SEEK ]   DEFB133 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB133 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)403339
GTEX Portal (Tissue expression)DEFB133
Human Protein AtlasENSG00000214643-DEFB133 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ30KQ1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ30KQ1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ30KQ1
Splice isoforms : SwissVarQ30KQ1
PhosPhoSitePlusQ30KQ1
Domains : Interpro (EBI)Beta_defensin   
Domain families : Pfam (Sanger)Defensin_beta_2 (PF13841)   
Domain families : Pfam (NCBI)pfam13841   
Conserved Domain (NCBI)DEFB133
DMDM Disease mutations403339
Blocks (Seattle)DEFB133
SuperfamilyQ30KQ1
Human Protein Atlas [tissue]ENSG00000214643-DEFB133 [tissue]
Peptide AtlasQ30KQ1
IPIIPI00746490   
Protein Interaction databases
DIP (DOE-UCLA)Q30KQ1
IntAct (EBI)Q30KQ1
FunCoupENSG00000214643
BioGRIDDEFB133
STRING (EMBL)DEFB133
ZODIACDEFB133
Ontologies - Pathways
QuickGOQ30KQ1
Ontology : AmiGOextracellular region  defense response to bacterium  innate immune response  
Ontology : EGO-EBIextracellular region  defense response to bacterium  innate immune response  
NDEx NetworkDEFB133
Atlas of Cancer Signalling NetworkDEFB133
Wikipedia pathwaysDEFB133
Orthology - Evolution
OrthoDB403339
GeneTree (enSembl)ENSG00000214643
Phylogenetic Trees/Animal Genes : TreeFamDEFB133
HOVERGENQ30KQ1
HOGENOMQ30KQ1
Homologs : HomoloGeneDEFB133
Homology/Alignments : Family Browser (UCSC)DEFB133
Gene fusions - Rearrangements
Fusion : QuiverDEFB133
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB133 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB133
dbVarDEFB133
ClinVarDEFB133
1000_GenomesDEFB133 
Exome Variant ServerDEFB133
ExAC (Exome Aggregation Consortium)ENSG00000214643
GNOMAD BrowserENSG00000214643
Varsome BrowserDEFB133
Genetic variants : HAPMAP403339
Genomic Variants (DGV)DEFB133 [DGVbeta]
DECIPHERDEFB133 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFB133 
Mutations
ICGC Data PortalDEFB133 
TCGA Data PortalDEFB133 
Broad Tumor PortalDEFB133
OASIS PortalDEFB133 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFB133  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFB133
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DEFB133
DgiDB (Drug Gene Interaction Database)DEFB133
DoCM (Curated mutations)DEFB133 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB133 (select a term)
intoGenDEFB133
Cancer3DDEFB133(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETDEFB133
MedgenDEFB133
Genetic Testing Registry DEFB133
NextProtQ30KQ1 [Medical]
TSGene403339
GENETestsDEFB133
Target ValidationDEFB133
Huge Navigator DEFB133 [HugePedia]
snp3D : Map Gene to Disease403339
BioCentury BCIQDEFB133
ClinGenDEFB133
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD403339
Chemical/Pharm GKB GenePA134862169
Clinical trialDEFB133
Miscellaneous
canSAR (ICR)DEFB133 (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB133
EVEXDEFB133
GoPubMedDEFB133
iHOPDEFB133
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 13:42:31 CEST 2018

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