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TPD52L1 (tumor protein D52 like 1)

Identity

Alias_symbol (synonym)D53
hD53
Other alias
HGNC (Hugo) TPD52L1
LocusID (NCBI) 7164
Atlas_Id 42677
Location 6q22.31  [Link to chromosome band 6q22]
Location_base_pair Starts at 125153729 and ends at 125264406 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)
HDDC2 (6q22.31) / TPD52L1 (6q22.31)TPD52L1 (6q22.31) / PARVA (11p15.3)TPD52L1 (6q22.31) / SAMD3 (6q23.1)
TPD52L1 (6q22.31) / TRMT11 (6q22.32)HDDC2 6q22.31 / TPD52L1 6q22.31TPD52L1 6q22.31 / SAMD3 6q23.1

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  Lung: Translocations in Adenocarcinoma
t(6;6)(q22;q22) HDDC2/TPD52L1
t(6;6)(q22;q22) TPD52L1/ROS1
t(6;6)(q22;q22) TPD52L1/TRMT11
t(6;6)(q22;q23) MAP7/TPD52L1
t(6;6)(q22;q23) TPD52L1/SAMD3


External links

Nomenclature
HGNC (Hugo)TPD52L1   12006
Cards
Entrez_Gene (NCBI)TPD52L1  7164  tumor protein D52 like 1
AliasesD53
GeneCards (Weizmann)TPD52L1
Ensembl hg19 (Hinxton)ENSG00000111907 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111907 [Gene_View]  ENSG00000111907 [Sequence]  chr6:125153729-125264406 [Contig_View]  TPD52L1 [Vega]
ICGC DataPortalENSG00000111907
TCGA cBioPortalTPD52L1
AceView (NCBI)TPD52L1
Genatlas (Paris)TPD52L1
WikiGenes7164
SOURCE (Princeton)TPD52L1
Genetics Home Reference (NIH)TPD52L1
Genomic and cartography
GoldenPath hg38 (UCSC)TPD52L1  -     chr6:125153729-125264406 +  6q22.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TPD52L1  -     6q22.31   [Description]    (hg19-Feb_2009)
EnsemblTPD52L1 - 6q22.31 [CytoView hg19]  TPD52L1 - 6q22.31 [CytoView hg38]
Mapping of homologs : NCBITPD52L1 [Mapview hg19]  TPD52L1 [Mapview hg38]
OMIM604069   
Gene and transcription
Genbank (Entrez)AF004427 AF208012 AI222450 AK090516 AK124817
RefSeq transcript (Entrez)NM_001003395 NM_001003396 NM_001003397 NM_001292026 NM_001300994 NM_001318903 NM_001318907 NM_003287
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TPD52L1
Cluster EST : UnigeneHs.591347 [ NCBI ]
CGAP (NCI)Hs.591347
Alternative Splicing GalleryENSG00000111907
Gene ExpressionTPD52L1 [ NCBI-GEO ]   TPD52L1 [ EBI - ARRAY_EXPRESS ]   TPD52L1 [ SEEK ]   TPD52L1 [ MEM ]
Gene Expression Viewer (FireBrowse)TPD52L1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7164
GTEX Portal (Tissue expression)TPD52L1
Human Protein AtlasENSG00000111907-TPD52L1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16890   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16890  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16890
Splice isoforms : SwissVarQ16890
PhosPhoSitePlusQ16890
Domains : Interpro (EBI)TPD52   
Domain families : Pfam (Sanger)TPD52 (PF04201)   
Domain families : Pfam (NCBI)pfam04201   
Conserved Domain (NCBI)TPD52L1
DMDM Disease mutations7164
Blocks (Seattle)TPD52L1
SuperfamilyQ16890
Human Protein Atlas [tissue]ENSG00000111907-TPD52L1 [tissue]
Peptide AtlasQ16890
HPRD07236
IPIIPI00976469   IPI00457045   IPI00414728   IPI00642078   IPI00816579   IPI00383670   IPI01010832   IPI00977565   IPI00976266   IPI00472076   
Protein Interaction databases
DIP (DOE-UCLA)Q16890
IntAct (EBI)Q16890
FunCoupENSG00000111907
BioGRIDTPD52L1
STRING (EMBL)TPD52L1
ZODIACTPD52L1
Ontologies - Pathways
QuickGOQ16890
Ontology : AmiGOG2/M transition of mitotic cell cycle  protein binding  cytoplasm  identical protein binding  protein homodimerization activity  positive regulation of MAP kinase activity  positive regulation of JNK cascade  protein heterodimerization activity  perinuclear region of cytoplasm  positive regulation of apoptotic signaling pathway  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  protein binding  cytoplasm  identical protein binding  protein homodimerization activity  positive regulation of MAP kinase activity  positive regulation of JNK cascade  protein heterodimerization activity  perinuclear region of cytoplasm  positive regulation of apoptotic signaling pathway  
NDEx NetworkTPD52L1
Atlas of Cancer Signalling NetworkTPD52L1
Wikipedia pathwaysTPD52L1
Orthology - Evolution
OrthoDB7164
GeneTree (enSembl)ENSG00000111907
Phylogenetic Trees/Animal Genes : TreeFamTPD52L1
HOVERGENQ16890
HOGENOMQ16890
Homologs : HomoloGeneTPD52L1
Homology/Alignments : Family Browser (UCSC)TPD52L1
Gene fusions - Rearrangements
Fusion : MitelmanHDDC2/TPD52L1 [6q22.31/6q22.31]  [t(6;6)(q22;q22)]  
Fusion : MitelmanTPD52L1/SAMD3 [6q22.31/6q23.1]  [t(6;6)(q22;q23)]  
Fusion : MitelmanTPD52L1/TRMT11 [6q22.31/6q22.32]  [t(6;6)(q22;q22)]  
Fusion PortalHDDC2 6q22.31 TPD52L1 6q22.31 BLCA
Fusion PortalTPD52L1 6q22.31 SAMD3 6q23.1 PRAD
Fusion : QuiverTPD52L1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTPD52L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TPD52L1
dbVarTPD52L1
ClinVarTPD52L1
1000_GenomesTPD52L1 
Exome Variant ServerTPD52L1
ExAC (Exome Aggregation Consortium)ENSG00000111907
GNOMAD BrowserENSG00000111907
Genetic variants : HAPMAP7164
Genomic Variants (DGV)TPD52L1 [DGVbeta]
DECIPHERTPD52L1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTPD52L1 
Mutations
ICGC Data PortalTPD52L1 
TCGA Data PortalTPD52L1 
Broad Tumor PortalTPD52L1
OASIS PortalTPD52L1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTPD52L1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTPD52L1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TPD52L1
DgiDB (Drug Gene Interaction Database)TPD52L1
DoCM (Curated mutations)TPD52L1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TPD52L1 (select a term)
intoGenTPD52L1
Cancer3DTPD52L1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604069   
Orphanet
DisGeNETTPD52L1
MedgenTPD52L1
Genetic Testing Registry TPD52L1
NextProtQ16890 [Medical]
TSGene7164
GENETestsTPD52L1
Target ValidationTPD52L1
Huge Navigator TPD52L1 [HugePedia]
snp3D : Map Gene to Disease7164
BioCentury BCIQTPD52L1
ClinGenTPD52L1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7164
Chemical/Pharm GKB GenePA36687
Clinical trialTPD52L1
Miscellaneous
canSAR (ICR)TPD52L1 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTPD52L1
EVEXTPD52L1
GoPubMedTPD52L1
iHOPTPD52L1
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 : Fri Jun 22 16:54:57 CEST 2018

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