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DFNA5 (DFNA5, deafness associated tumor suppressor)

Identity

Alias_namesdeafness
Alias_symbol (synonym)ICERE-1
Other alias
HGNC (Hugo) DFNA5
LocusID (NCBI) 1687
Atlas_Id 50202
Location 7p15.3  [Link to chromosome band 7p15]
Location_base_pair Starts at 24698355 and ends at 24757464 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ADCYAP1R1 (7p14.3) / DFNA5 (7p15.3)DFNA5 (7p15.3) / SCRN1 (7p14.3)FAM172A (5q15) / DFNA5 (7p15.3)
ADCYAP1R1 7p14.3 / DFNA5 7p15.3

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)DFNA5   2810
Cards
Entrez_Gene (NCBI)DFNA5  1687  DFNA5, deafness associated tumor suppressor
AliasesICERE-1
GeneCards (Weizmann)DFNA5
Ensembl hg19 (Hinxton)ENSG00000105928 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105928 [Gene_View]  chr7:24698355-24757464 [Contig_View]  DFNA5 [Vega]
ICGC DataPortalENSG00000105928
TCGA cBioPortalDFNA5
AceView (NCBI)DFNA5
Genatlas (Paris)DFNA5
WikiGenes1687
SOURCE (Princeton)DFNA5
Genetics Home Reference (NIH)DFNA5
Genomic and cartography
GoldenPath hg38 (UCSC)DFNA5  -     chr7:24698355-24757464 -  7p15.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DFNA5  -     7p15.3   [Description]    (hg19-Feb_2009)
EnsemblDFNA5 - 7p15.3 [CytoView hg19]  DFNA5 - 7p15.3 [CytoView hg38]
Mapping of homologs : NCBIDFNA5 [Mapview hg19]  DFNA5 [Mapview hg38]
OMIM600994   608798   
Gene and transcription
Genbank (Entrez)AF007790 AF073308 AF075171 AF131765 AJ270686
RefSeq transcript (Entrez)NM_001127453 NM_001127454 NM_004403
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DFNA5
Cluster EST : UnigeneHs.520708 [ NCBI ]
CGAP (NCI)Hs.520708
Alternative Splicing GalleryENSG00000105928
Gene ExpressionDFNA5 [ NCBI-GEO ]   DFNA5 [ EBI - ARRAY_EXPRESS ]   DFNA5 [ SEEK ]   DFNA5 [ MEM ]
Gene Expression Viewer (FireBrowse)DFNA5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1687
GTEX Portal (Tissue expression)DFNA5
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60443   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60443  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60443
Splice isoforms : SwissVarO60443
PhosPhoSitePlusO60443
Domains : Interpro (EBI)Gasdermin   
Domain families : Pfam (Sanger)Gasdermin (PF04598)   
Domain families : Pfam (NCBI)pfam04598   
Conserved Domain (NCBI)DFNA5
DMDM Disease mutations1687
Blocks (Seattle)DFNA5
SuperfamilyO60443
Human Protein AtlasENSG00000105928
Peptide AtlasO60443
HPRD02996
IPIIPI00029656   IPI00218265   IPI00916467   IPI00916340   IPI00917302   IPI00917746   IPI00916945   
Protein Interaction databases
DIP (DOE-UCLA)O60443
IntAct (EBI)O60443
FunCoupENSG00000105928
BioGRIDDFNA5
STRING (EMBL)DFNA5
ZODIACDFNA5
Ontologies - Pathways
QuickGOO60443
Ontology : AmiGOcytosol  plasma membrane  sensory perception of sound  negative regulation of cell proliferation  programmed cell death  inner ear receptor cell differentiation  positive regulation of intrinsic apoptotic signaling pathway  
Ontology : EGO-EBIcytosol  plasma membrane  sensory perception of sound  negative regulation of cell proliferation  programmed cell death  inner ear receptor cell differentiation  positive regulation of intrinsic apoptotic signaling pathway  
NDEx NetworkDFNA5
Atlas of Cancer Signalling NetworkDFNA5
Wikipedia pathwaysDFNA5
Orthology - Evolution
OrthoDB1687
GeneTree (enSembl)ENSG00000105928
Phylogenetic Trees/Animal Genes : TreeFamDFNA5
HOVERGENO60443
HOGENOMO60443
Homologs : HomoloGeneDFNA5
Homology/Alignments : Family Browser (UCSC)DFNA5
Gene fusions - Rearrangements
Fusion : MitelmanADCYAP1R1/DFNA5 [7p14.3/7p15.3]  [t(7;7)(p14;p15)]  
Fusion: TCGAADCYAP1R1 7p14.3 DFNA5 7p15.3 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDFNA5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DFNA5
dbVarDFNA5
ClinVarDFNA5
1000_GenomesDFNA5 
Exome Variant ServerDFNA5
ExAC (Exome Aggregation Consortium)DFNA5 (select the gene name)
Genetic variants : HAPMAP1687
Genomic Variants (DGV)DFNA5 [DGVbeta]
DECIPHERDFNA5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDFNA5 
Mutations
ICGC Data PortalDFNA5 
TCGA Data PortalDFNA5 
Broad Tumor PortalDFNA5
OASIS PortalDFNA5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDFNA5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDFNA5
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 DFNA5
DgiDB (Drug Gene Interaction Database)DFNA5
DoCM (Curated mutations)DFNA5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DFNA5 (select a term)
intoGenDFNA5
Cancer3DDFNA5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600994    608798   
Orphanet12046   
MedgenDFNA5
Genetic Testing Registry DFNA5
NextProtO60443 [Medical]
TSGene1687
GENETestsDFNA5
Target ValidationDFNA5
Huge Navigator DFNA5 [HugePedia]
snp3D : Map Gene to Disease1687
BioCentury BCIQDFNA5
ClinGenDFNA5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1687
Chemical/Pharm GKB GenePA27281
Clinical trialDFNA5
Miscellaneous
canSAR (ICR)DFNA5 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDFNA5
EVEXDFNA5
GoPubMedDFNA5
iHOPDFNA5
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 12:31:02 CEST 2017

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