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TPRN (taperin)

Identity

Alias (NCBI)C9orf75
DFNB79
HGNC (Hugo) TPRN
HGNC Alias symbFLJ90254
HGNC Previous nameC9orf75
 DFNB79
HGNC Previous namechromosome 9 open reading frame 75
 deafness, autosomal recessive 79
LocusID (NCBI) 286262
Atlas_Id 75083
Location 9q34.3  [Link to chromosome band 9q34]
Location_base_pair Starts at 137191619 and ends at 137200741 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)
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    taperin
AliasesC9orf75; DFNB79
GeneCards (Weizmann)TPRN
Ensembl hg19 (Hinxton)ENSG00000176058 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000176058 [Gene_View]  ENSG00000176058 [Sequence]  chr9:137191619-137200741 [Contig_View]  TPRN [Vega]
ICGC DataPortalENSG00000176058
TCGA cBioPortalTPRN
AceView (NCBI)TPRN
Genatlas (Paris)TPRN
SOURCE (Princeton)TPRN
Genetics Home Reference (NIH)TPRN
Genomic and cartography
GoldenPath hg38 (UCSC)TPRN  -     chr9:137191619-137200741 -  9q34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TPRN  -     9q34.3   [Description]    (hg19-Feb_2009)
GoldenPathTPRN - 9q34.3 [CytoView hg19]  TPRN - 9q34.3 [CytoView hg38]
ImmunoBaseENSG00000176058
Genome Data Viewer NCBITPRN [Mapview hg19]  
OMIM613307   613354   
Gene and transcription
Genbank (Entrez)AK074735 BC023530 BC048807 BC065498 BC071831
RefSeq transcript (Entrez)NM_001128228 NM_173691
Consensus coding sequences : CCDS (NCBI)TPRN
Gene ExpressionTPRN [ NCBI-GEO ]   TPRN [ EBI - ARRAY_EXPRESS ]   TPRN [ SEEK ]   TPRN [ MEM ]
Gene Expression Viewer (FireBrowse)TPRN [ Firebrowse - Broad ]
GenevisibleExpression of TPRN in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)286262
GTEX Portal (Tissue expression)TPRN
Human Protein AtlasENSG00000176058-TPRN [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ4KMQ1
Domains : Interpro (EBI)Phostensin/Taperin_N_dom    Phostensin/Taperin_PP1-bd_dom    PPP1R18/Tprn    TPRN   
Domain families : Pfam (Sanger)Phostensin (PF13914)    Phostensin_N (PF13916)   
Domain families : Pfam (NCBI)pfam13914    pfam13916   
Conserved Domain (NCBI)TPRN
PDB (RSDB)6Y9Q   
PDB Europe6Y9Q   
PDB (PDBSum)6Y9Q   
PDB (IMB)6Y9Q   
Structural Biology KnowledgeBase6Y9Q   
SCOP (Structural Classification of Proteins)6Y9Q   
CATH (Classification of proteins structures)6Y9Q   
SuperfamilyQ4KMQ1
AlphaFold pdb e-kbQ4KMQ1   
Human Protein Atlas [tissue]ENSG00000176058-TPRN [tissue]
HPRD12977
Protein Interaction databases
DIP (DOE-UCLA)Q4KMQ1
IntAct (EBI)Q4KMQ1
BioGRIDTPRN
STRING (EMBL)TPRN
ZODIACTPRN
Ontologies - Pathways
QuickGOQ4KMQ1
Ontology : AmiGOmolecular_function  protein binding  sensory perception of sound  phosphatase binding  stereocilium  auditory receptor cell stereocilium organization  stereocilium base  stereocilium maintenance  
Ontology : EGO-EBImolecular_function  protein binding  sensory perception of sound  phosphatase binding  stereocilium  auditory receptor cell stereocilium organization  stereocilium base  stereocilium maintenance  
NDEx NetworkTPRN
Atlas of Cancer Signalling NetworkTPRN
Wikipedia pathwaysTPRN
Orthology - Evolution
OrthoDB286262
GeneTree (enSembl)ENSG00000176058
Phylogenetic Trees/Animal Genes : TreeFamTPRN
Homologs : HomoloGeneTPRN
Homology/Alignments : Family Browser (UCSC)TPRN
Gene fusions - Rearrangements
Fusion : QuiverTPRN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTPRN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TPRN
dbVarTPRN
ClinVarTPRN
MonarchTPRN
1000_GenomesTPRN 
Exome Variant ServerTPRN
GNOMAD BrowserENSG00000176058
Varsome BrowserTPRN
ACMGTPRN variants
VarityQ4KMQ1
Genomic Variants (DGV)TPRN [DGVbeta]
DECIPHERTPRN [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DTPRN
Mutations and Diseases : HGMDTPRN
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTPRN
DgiDB (Drug Gene Interaction Database)TPRN
DoCM (Curated mutations)TPRN
CIViC (Clinical Interpretations of Variants in Cancer)TPRN
Cancer3DTPRN
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613307    613354   
Orphanet12047   
DisGeNETTPRN
MedgenTPRN
Genetic Testing Registry TPRN
NextProtQ4KMQ1 [Medical]
GENETestsTPRN
Target ValidationTPRN
Huge Navigator TPRN [HugePedia]
ClinGenTPRN
Clinical trials, drugs, therapy
MyCancerGenomeTPRN
Protein Interactions : CTDTPRN
Pharm GKB GenePA165586341
PharosQ4KMQ1
Clinical trialTPRN
Miscellaneous
canSAR (ICR)TPRN
HarmonizomeTPRN
DataMed IndexTPRN
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTPRN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 16:26:38 CEST 2021

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