Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

DEFB124 (defensin, beta 124)

Identity

Alias_namesdefensin, beta 124
Alias_symbol (synonym)DEFB-24
Other alias
HGNC (Hugo) DEFB124
LocusID (NCBI) 245937
Atlas_Id 62410
Location 20q11.21  [Link to chromosome band 20q11]
Location_base_pair Starts at 30053309 and ends at 30060816 bp from pter ( according to hg19-Feb_2009)

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)DEFB124   18104
Cards
Entrez_Gene (NCBI)DEFB124  245937  defensin, beta 124
AliasesDEFB-24
GeneCards (Weizmann)DEFB124
Ensembl hg19 (Hinxton)ENSG00000180383 [Gene_View]  chr20:30053309-30060816 [Contig_View]  DEFB124 [Vega]
Ensembl hg38 (Hinxton)ENSG00000180383 [Gene_View]  chr20:30053309-30060816 [Contig_View]  DEFB124 [Vega]
ICGC DataPortalENSG00000180383
TCGA cBioPortalDEFB124
AceView (NCBI)DEFB124
Genatlas (Paris)DEFB124
WikiGenes245937
SOURCE (Princeton)DEFB124
Genetics Home Reference (NIH)DEFB124
Genomic and cartography
GoldenPath hg19 (UCSC)DEFB124  -     chr20:30053309-30060816 -  20q11.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DEFB124  -     20q11.21   [Description]    (hg38-Dec_2013)
EnsemblDEFB124 - 20q11.21 [CytoView hg19]  DEFB124 - 20q11.21 [CytoView hg38]
Mapping of homologs : NCBIDEFB124 [Mapview hg19]  DEFB124 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AY122476 BC156853 DQ119827
RefSeq transcript (Entrez)NM_001037500
RefSeq genomic (Entrez)NC_000020 NC_018931 NT_011362 NW_004929418
Consensus coding sequences : CCDS (NCBI)DEFB124
Cluster EST : UnigeneHs.381373 [ NCBI ]
CGAP (NCI)Hs.381373
Alternative Splicing GalleryENSG00000180383
Gene ExpressionDEFB124 [ NCBI-GEO ]   DEFB124 [ EBI - ARRAY_EXPRESS ]   DEFB124 [ SEEK ]   DEFB124 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB124 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)245937
GTEX Portal (Tissue expression)DEFB124
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NES8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NES8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NES8
Splice isoforms : SwissVarQ8NES8
PhosPhoSitePlusQ8NES8
Domains : Interpro (EBI)Beta_defensin   
Domain families : Pfam (Sanger)Defensin_beta_2 (PF13841)   
Domain families : Pfam (NCBI)pfam13841   
Conserved Domain (NCBI)DEFB124
DMDM Disease mutations245937
Blocks (Seattle)DEFB124
SuperfamilyQ8NES8
Human Protein AtlasENSG00000180383
Peptide AtlasQ8NES8
HPRD18759
IPIIPI00171622   
Protein Interaction databases
DIP (DOE-UCLA)Q8NES8
IntAct (EBI)Q8NES8
FunCoupENSG00000180383
BioGRIDDEFB124
STRING (EMBL)DEFB124
ZODIACDEFB124
Ontologies - Pathways
QuickGOQ8NES8
Ontology : AmiGOextracellular region  cell surface  defense response to bacterium  innate immune response  
Ontology : EGO-EBIextracellular region  cell surface  defense response to bacterium  innate immune response  
NDEx NetworkDEFB124
Atlas of Cancer Signalling NetworkDEFB124
Wikipedia pathwaysDEFB124
Orthology - Evolution
OrthoDB245937
GeneTree (enSembl)ENSG00000180383
Phylogenetic Trees/Animal Genes : TreeFamDEFB124
HOVERGENQ8NES8
HOGENOMQ8NES8
Homologs : HomoloGeneDEFB124
Homology/Alignments : Family Browser (UCSC)DEFB124
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB124 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB124
dbVarDEFB124
ClinVarDEFB124
1000_GenomesDEFB124 
Exome Variant ServerDEFB124
ExAC (Exome Aggregation Consortium)DEFB124 (select the gene name)
Genetic variants : HAPMAP245937
Genomic Variants (DGV)DEFB124 [DGVbeta]
DECIPHER (Syndromes)20:30053309-30060816  ENSG00000180383
CONAN: Copy Number AnalysisDEFB124 
Mutations
ICGC Data PortalDEFB124 
TCGA Data PortalDEFB124 
Broad Tumor PortalDEFB124
OASIS PortalDEFB124 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFB124  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFB124
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DEFB124
DgiDB (Drug Gene Interaction Database)DEFB124
DoCM (Curated mutations)DEFB124 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB124 (select a term)
intoGenDEFB124
Cancer3DDEFB124(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenDEFB124
Genetic Testing Registry DEFB124
NextProtQ8NES8 [Medical]
TSGene245937
GENETestsDEFB124
Huge Navigator DEFB124 [HugePedia]
snp3D : Map Gene to Disease245937
BioCentury BCIQDEFB124
ClinGenDEFB124
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD245937
Chemical/Pharm GKB GenePA38500
Clinical trialDEFB124
Miscellaneous
canSAR (ICR)DEFB124 (select the gene name)
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB124
EVEXDEFB124
GoPubMedDEFB124
iHOPDEFB124
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 12:01:25 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.