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TPRN (taperin)

Identity

Alias_namesC9orf75
DFNB79
chromosome 9 open reading frame 75
deafness, autosomal recessive 79
Alias_symbol (synonym)FLJ90254
Other alias
HGNC (Hugo) TPRN
LocusID (NCBI) 286262
Atlas_Id 75083
Location 9q34.3  [Link to chromosome band 9q34]
Location_base_pair Starts at 140086069 and ends at 140095163 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABR (17p13.3) / TPRN (9q34.3)ARFRP1 (20q13.33) / TPRN (9q34.3)EDF1 (9q34.3) / TPRN (9q34.3)
HLA-DRB1 (6p21.32) / TPRN (9q34.3)MLLT1 (19p13.3) / TPRN (9q34.3)NADK2 (5p13.2) / TPRN (9q34.3)
SH3GL1 (19p13.3) / TPRN (9q34.3)TMEM203 (9q34.3) / TPRN (9q34.3)TPRN (9q34.3) / EXD3 (9q34.3)
TRAF2 (9q34.3) / TPRN (9q34.3)

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)TPRN   26894
Cards
Entrez_Gene (NCBI)TPRN  286262  taperin
AliasesC9orf75; DFNB79
GeneCards (Weizmann)TPRN
Ensembl hg19 (Hinxton)ENSG00000176058 [Gene_View]  chr9:140086069-140095163 [Contig_View]  TPRN [Vega]
Ensembl hg38 (Hinxton)ENSG00000176058 [Gene_View]  chr9:140086069-140095163 [Contig_View]  TPRN [Vega]
ICGC DataPortalENSG00000176058
TCGA cBioPortalTPRN
AceView (NCBI)TPRN
Genatlas (Paris)TPRN
WikiGenes286262
SOURCE (Princeton)TPRN
Genetics Home Reference (NIH)TPRN
Genomic and cartography
GoldenPath hg19 (UCSC)TPRN  -     chr9:140086069-140095163 -  9q34.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TPRN  -     9q34.3   [Description]    (hg38-Dec_2013)
EnsemblTPRN - 9q34.3 [CytoView hg19]  TPRN - 9q34.3 [CytoView hg38]
Mapping of homologs : NCBITPRN [Mapview hg19]  TPRN [Mapview hg38]
OMIM613307   613354   
Gene and transcription
Genbank (Entrez)AK074735 BC023530 BC048807 BC065498 BC071831
RefSeq transcript (Entrez)NM_001128228 NM_173691
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_027801 NT_008470 NW_004929369
Consensus coding sequences : CCDS (NCBI)TPRN
Cluster EST : UnigeneHs.323445 [ NCBI ]
CGAP (NCI)Hs.323445
Alternative Splicing GalleryENSG00000176058
Gene ExpressionTPRN [ NCBI-GEO ]   TPRN [ EBI - ARRAY_EXPRESS ]   TPRN [ SEEK ]   TPRN [ MEM ]
Gene Expression Viewer (FireBrowse)TPRN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)286262
GTEX Portal (Tissue expression)TPRN
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ4KMQ1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ4KMQ1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ4KMQ1
Splice isoforms : SwissVarQ4KMQ1
PhosPhoSitePlusQ4KMQ1
Domains : Interpro (EBI)Phostensin/Taperin_N_dom    Phostensin/Taperin_PP1-bd_dom    PPP1R18/Tprn   
Domain families : Pfam (Sanger)Phostensin (PF13914)    Phostensin_N (PF13916)   
Domain families : Pfam (NCBI)pfam13914    pfam13916   
Conserved Domain (NCBI)TPRN
DMDM Disease mutations286262
Blocks (Seattle)TPRN
SuperfamilyQ4KMQ1
Human Protein AtlasENSG00000176058
Peptide AtlasQ4KMQ1
HPRD12977
IPIIPI00890798   IPI00973007   IPI00956651   IPI00168383   
Protein Interaction databases
DIP (DOE-UCLA)Q4KMQ1
IntAct (EBI)Q4KMQ1
FunCoupENSG00000176058
BioGRIDTPRN
STRING (EMBL)TPRN
ZODIACTPRN
Ontologies - Pathways
QuickGOQ4KMQ1
Ontology : AmiGOmolecular_function  sensory perception of sound  phosphatase binding  stereocilium  
Ontology : EGO-EBImolecular_function  sensory perception of sound  phosphatase binding  stereocilium  
NDEx NetworkTPRN
Atlas of Cancer Signalling NetworkTPRN
Wikipedia pathwaysTPRN
Orthology - Evolution
OrthoDB286262
GeneTree (enSembl)ENSG00000176058
Phylogenetic Trees/Animal Genes : TreeFamTPRN
HOVERGENQ4KMQ1
HOGENOMQ4KMQ1
Homologs : HomoloGeneTPRN
Homology/Alignments : Family Browser (UCSC)TPRN
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTPRN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TPRN
dbVarTPRN
ClinVarTPRN
1000_GenomesTPRN 
Exome Variant ServerTPRN
ExAC (Exome Aggregation Consortium)TPRN (select the gene name)
Genetic variants : HAPMAP286262
Genomic Variants (DGV)TPRN [DGVbeta]
DECIPHER (Syndromes)9:140086069-140095163  ENSG00000176058
CONAN: Copy Number AnalysisTPRN 
Mutations
ICGC Data PortalTPRN 
TCGA Data PortalTPRN 
Broad Tumor PortalTPRN
OASIS PortalTPRN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTPRN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTPRN
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch TPRN
DgiDB (Drug Gene Interaction Database)TPRN
DoCM (Curated mutations)TPRN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TPRN (select a term)
intoGenTPRN
Cancer3DTPRN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613307    613354   
Orphanet12047   
MedgenTPRN
Genetic Testing Registry TPRN
NextProtQ4KMQ1 [Medical]
TSGene286262
GENETestsTPRN
Huge Navigator TPRN [HugePedia]
snp3D : Map Gene to Disease286262
BioCentury BCIQTPRN
ClinGenTPRN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD286262
Chemical/Pharm GKB GenePA165586341
Clinical trialTPRN
Miscellaneous
canSAR (ICR)TPRN (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTPRN
EVEXTPRN
GoPubMedTPRN
iHOPTPRN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:49:25 CET 2017

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