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DEFB118 (defensin beta 118)

Identity

Alias_namesC20orf63
chromosome 20 open reading frame 63
defensin, beta 118
Alias_symbol (synonym)dJ1018D12.3
DEFB-18
ESC42
Other aliasESP13.6
HGNC (Hugo) DEFB118
LocusID (NCBI) 117285
Atlas_Id 62405
Location 20q11.21  [Link to chromosome band 20q11]
Location_base_pair Starts at 31368618 and ends at 31373902 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CCDC129 (7p14.3) / DEFB118 (20q11.21)ITCH (20q11.22) / DEFB118 (20q11.21)CCDC129 DEFB118
ITCH DEFB118

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)DEFB118   16196
Cards
Entrez_Gene (NCBI)DEFB118  117285  defensin beta 118
AliasesC20orf63; DEFB-18; ESC42; ESP13.6
GeneCards (Weizmann)DEFB118
Ensembl hg19 (Hinxton)ENSG00000131068 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131068 [Gene_View]  chr20:31368618-31373902 [Contig_View]  DEFB118 [Vega]
ICGC DataPortalENSG00000131068
TCGA cBioPortalDEFB118
AceView (NCBI)DEFB118
Genatlas (Paris)DEFB118
WikiGenes117285
SOURCE (Princeton)DEFB118
Genetics Home Reference (NIH)DEFB118
Genomic and cartography
GoldenPath hg38 (UCSC)DEFB118  -     chr20:31368618-31373902 +  20q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEFB118  -     20q11.21   [Description]    (hg19-Feb_2009)
EnsemblDEFB118 - 20q11.21 [CytoView hg19]  DEFB118 - 20q11.21 [CytoView hg38]
Mapping of homologs : NCBIDEFB118 [Mapview hg19]  DEFB118 [Mapview hg38]
OMIM607650   
Gene and transcription
Genbank (Entrez)AF347073 AF529415 AY122471 BC035677 BC117378
RefSeq transcript (Entrez)NM_054112
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEFB118
Cluster EST : UnigeneHs.274124 [ NCBI ]
CGAP (NCI)Hs.274124
Alternative Splicing GalleryENSG00000131068
Gene ExpressionDEFB118 [ NCBI-GEO ]   DEFB118 [ EBI - ARRAY_EXPRESS ]   DEFB118 [ SEEK ]   DEFB118 [ MEM ]
Gene Expression Viewer (FireBrowse)DEFB118 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)117285
GTEX Portal (Tissue expression)DEFB118
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96PH6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96PH6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96PH6
Splice isoforms : SwissVarQ96PH6
PhosPhoSitePlusQ96PH6
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)DEFB118
DMDM Disease mutations117285
Blocks (Seattle)DEFB118
SuperfamilyQ96PH6
Human Protein AtlasENSG00000131068
Peptide AtlasQ96PH6
HPRD09629
IPIIPI00044460   
Protein Interaction databases
DIP (DOE-UCLA)Q96PH6
IntAct (EBI)Q96PH6
FunCoupENSG00000131068
BioGRIDDEFB118
STRING (EMBL)DEFB118
ZODIACDEFB118
Ontologies - Pathways
QuickGOQ96PH6
Ontology : AmiGOextracellular region  cell-matrix adhesion  spermatogenesis  defense response to bacterium  innate immune response  
Ontology : EGO-EBIextracellular region  cell-matrix adhesion  spermatogenesis  defense response to bacterium  innate immune response  
NDEx NetworkDEFB118
Atlas of Cancer Signalling NetworkDEFB118
Wikipedia pathwaysDEFB118
Orthology - Evolution
OrthoDB117285
GeneTree (enSembl)ENSG00000131068
Phylogenetic Trees/Animal Genes : TreeFamDEFB118
HOVERGENQ96PH6
HOGENOMQ96PH6
Homologs : HomoloGeneDEFB118
Homology/Alignments : Family Browser (UCSC)DEFB118
Gene fusions - Rearrangements
Fusion: TCGACCDC129 DEFB118
Fusion: TCGAITCH DEFB118
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEFB118 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEFB118
dbVarDEFB118
ClinVarDEFB118
1000_GenomesDEFB118 
Exome Variant ServerDEFB118
ExAC (Exome Aggregation Consortium)DEFB118 (select the gene name)
Genetic variants : HAPMAP117285
Genomic Variants (DGV)DEFB118 [DGVbeta]
DECIPHERDEFB118 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEFB118 
Mutations
ICGC Data PortalDEFB118 
TCGA Data PortalDEFB118 
Broad Tumor PortalDEFB118
OASIS PortalDEFB118 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEFB118  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEFB118
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 DEFB118
DgiDB (Drug Gene Interaction Database)DEFB118
DoCM (Curated mutations)DEFB118 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEFB118 (select a term)
intoGenDEFB118
Cancer3DDEFB118(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607650   
Orphanet
MedgenDEFB118
Genetic Testing Registry DEFB118
NextProtQ96PH6 [Medical]
TSGene117285
GENETestsDEFB118
Target ValidationDEFB118
Huge Navigator DEFB118 [HugePedia]
snp3D : Map Gene to Disease117285
BioCentury BCIQDEFB118
ClinGenDEFB118
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD117285
Chemical/Pharm GKB GenePA27245
Clinical trialDEFB118
Miscellaneous
canSAR (ICR)DEFB118 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEFB118
EVEXDEFB118
GoPubMedDEFB118
iHOPDEFB118
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:45:38 CEST 2017

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