Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DEFB131A (defensin beta 131A)

Identity

Alias_namesDEFB131
defensin, beta 131
defensin beta 131
Alias_symbol (synonym)DEFB-31
Other alias
HGNC (Hugo) DEFB131A
LocusID (NCBI) 644414
Atlas_Id 80226
Location 4p16.1  [Link to chromosome band 4p16]
Location_base_pair Starts at 9444534 and ends at 9450514 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

External links

Nomenclature
HGNC (Hugo)DEFB131A   18108
Cards
Entrez_Gene (NCBI)DEFB131A  644414  defensin beta 131A
AliasesDEFB-31; DEFB131
GeneCards (Weizmann)DEFB131A
Ensembl hg19 (Hinxton)ENSG00000186146 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186146 [Gene_View]  ENSG00000186146 [Sequence]  chr4:9444534-9450514 [Contig_View]  DEFB131A [Vega]
ICGC DataPortalENSG00000186146
TCGA cBioPortalDEFB131A
AceView (NCBI)DEFB131A
Genatlas (Paris)DEFB131A
WikiGenes644414
SOURCE (Princeton)DEFB131A
Genetics Home Reference (NIH)DEFB131A
Genomic and cartography
GoldenPath hg38 (UCSC)DEFB131A  -     chr4:9444534-9450514 +  4p16.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFB131A  -     4p16.1   [Description]    (hg19-Feb_2009)
GoldenPathDEFB131A - 4p16.1 [CytoView hg19]  DEFB131A - 4p16.1 [CytoView hg38]
ImmunoBaseENSG00000186146
Mapping of homologs : NCBIDEFB131A [Mapview hg19]  DEFB131A [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF529414
RefSeq transcript (Entrez)NM_001040448
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFB131A
Cluster EST : UnigeneHs.590200 [ NCBI ]
CGAP (NCI)Hs.590200
Alternative Splicing GalleryENSG00000186146
Gene ExpressionDEFB131A [ NCBI-GEO ]   DEFB131A [ EBI - ARRAY_EXPRESS ]   DEFB131A [ SEEK ]   DEFB131A [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB131A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)644414
GTEX Portal (Tissue expression)DEFB131A
Human Protein AtlasENSG00000186146-DEFB131A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP59861   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP59861  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP59861
Splice isoforms : SwissVarP59861
PhosPhoSitePlusP59861
Domains : Interpro (EBI)Beta_defensin   
Domain families : Pfam (Sanger)Defensin_beta_2 (PF13841)   
Domain families : Pfam (NCBI)pfam13841   
Conserved Domain (NCBI)DEFB131A
DMDM Disease mutations644414
Blocks (Seattle)DEFB131A
SuperfamilyP59861
Human Protein Atlas [tissue]ENSG00000186146-DEFB131A [tissue]
Peptide AtlasP59861
IPIIPI00739683   
Protein Interaction databases
DIP (DOE-UCLA)P59861
IntAct (EBI)P59861
FunCoupENSG00000186146
BioGRIDDEFB131A
STRING (EMBL)DEFB131A
ZODIACDEFB131A
Ontologies - Pathways
QuickGOP59861
Ontology : AmiGOextracellular space  extracellular space  defense response to bacterium  innate immune response  
Ontology : EGO-EBIextracellular space  extracellular space  defense response to bacterium  innate immune response  
NDEx NetworkDEFB131A
Atlas of Cancer Signalling NetworkDEFB131A
Wikipedia pathwaysDEFB131A
Orthology - Evolution
OrthoDB644414
GeneTree (enSembl)ENSG00000186146
Phylogenetic Trees/Animal Genes : TreeFamDEFB131A
HOGENOMP59861
Homologs : HomoloGeneDEFB131A
Homology/Alignments : Family Browser (UCSC)DEFB131A
Gene fusions - Rearrangements
Fusion : QuiverDEFB131A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB131A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB131A
dbVarDEFB131A
ClinVarDEFB131A
1000_GenomesDEFB131A 
Exome Variant ServerDEFB131A
ExAC (Exome Aggregation Consortium)ENSG00000186146
GNOMAD BrowserENSG00000186146
Varsome BrowserDEFB131A
Genetic variants : HAPMAP644414
Genomic Variants (DGV)DEFB131A [DGVbeta]
DECIPHERDEFB131A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFB131A 
Mutations
ICGC Data PortalDEFB131A 
TCGA Data PortalDEFB131A 
Broad Tumor PortalDEFB131A
OASIS PortalDEFB131A [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDDEFB131A
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 DEFB131A
DgiDB (Drug Gene Interaction Database)DEFB131A
DoCM (Curated mutations)DEFB131A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB131A (select a term)
intoGenDEFB131A
Cancer3DDEFB131A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETDEFB131A
MedgenDEFB131A
Genetic Testing Registry DEFB131A
NextProtP59861 [Medical]
TSGene644414
GENETestsDEFB131A
Target ValidationDEFB131A
Huge Navigator DEFB131A [HugePedia]
snp3D : Map Gene to Disease644414
BioCentury BCIQDEFB131A
ClinGenDEFB131A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD644414
Chemical/Pharm GKB GenePA38504
Clinical trialDEFB131A
Miscellaneous
canSAR (ICR)DEFB131A (select the gene name)
DataMed IndexDEFB131A
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB131A
EVEXDEFB131A
GoPubMedDEFB131A
iHOPDEFB131A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 15:25:33 CEST 2019
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