Atlas of Genetics and Cytogenetics in Oncology and Haematology

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UTRN (utrophin)

Identity

Alias_namesDMDL
utrophin (homologous to dystrophin)
Alias_symbol (synonym)DRP
DRP1
Other alias
HGNC (Hugo) UTRN
LocusID (NCBI) 7402
Atlas_Id 43837
Location 6q24.2  [Link to chromosome band 6q24]
Location_base_pair Starts at 144291737 and ends at 144853034 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)
NOL10 (2p25.1) / UTRN (6q24.2)SH3PXD2A (10q24.33) / UTRN (6q24.2)UTRN (6q24.2) / CKAP4 (12q23.3)
UTRN (6q24.2) / LOC284998 ()UTRN (6q24.2) / NFIA (1p31.3)UTRN (6q24.2) / OS9 (12q13.3)
UTRN (6q24.2) / RSPH9 (6p21.1)UTRN (6q24.2) / SHPRH (6q24.3)UTRN (6q24.2) / TMEM232 (5q22.1)
UTRN (6q24.2) / UTRN (6q24.2)

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(2;6)(p12;q24) UTRN/POLE4
t(6;14)(q24;q24) UTRN/ENTPD5

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  UTRN/SHPRH (6q24)
UTRN/OS9 ()

External links

Nomenclature
HGNC (Hugo)UTRN   12635
Cards
Entrez_Gene (NCBI)UTRN  7402  utrophin
AliasesDMDL; DRP; DRP1
GeneCards (Weizmann)UTRN
Ensembl hg19 (Hinxton)ENSG00000152818 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000152818 [Gene_View]  ENSG00000152818 [Sequence]  chr6:144291737-144853034 [Contig_View]  UTRN [Vega]
ICGC DataPortalENSG00000152818
TCGA cBioPortalUTRN
AceView (NCBI)UTRN
Genatlas (Paris)UTRN
WikiGenes7402
SOURCE (Princeton)UTRN
Genetics Home Reference (NIH)UTRN
Genomic and cartography
GoldenPath hg38 (UCSC)UTRN  -     chr6:144291737-144853034 +  6q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UTRN  -     6q24.2   [Description]    (hg19-Feb_2009)
GoldenPathUTRN - 6q24.2 [CytoView hg19]  UTRN - 6q24.2 [CytoView hg38]
ImmunoBaseENSG00000152818
Mapping of homologs : NCBIUTRN [Mapview hg19]  UTRN [Mapview hg38]
OMIM128240   
Gene and transcription
Genbank (Entrez)AK023675 AK292506 BE817979 BM729107 BX100445
RefSeq transcript (Entrez)NM_007124
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UTRN
Cluster EST : UnigeneHs.133135 [ NCBI ]
CGAP (NCI)Hs.133135
Alternative Splicing GalleryENSG00000152818
Gene ExpressionUTRN [ NCBI-GEO ]   UTRN [ EBI - ARRAY_EXPRESS ]   UTRN [ SEEK ]   UTRN [ MEM ]
Gene Expression Viewer (FireBrowse)UTRN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7402
GTEX Portal (Tissue expression)UTRN
Human Protein AtlasENSG00000152818-UTRN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP46939   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP46939  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP46939
Splice isoforms : SwissVarP46939
PhosPhoSitePlusP46939
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)    ZF_ZZ_1 (PS01357)    ZF_ZZ_2 (PS50135)   
Domains : Interpro (EBI)Actinin_actin-bd_CS    CH-domain    CH_dom_sf    Dystrophin/utrophin    EF-hand-dom_pair    EF-hand_dom_typ1    EF-hand_dom_typ2    Spectrin/alpha-actinin    Spectrin_repeat    WW_dom    WW_dom_sf    Znf_ZZ   
Domain families : Pfam (Sanger)CH (PF00307)    EF-hand_2 (PF09068)    EF-hand_3 (PF09069)    Spectrin (PF00435)    WW (PF00397)    ZZ (PF00569)   
Domain families : Pfam (NCBI)pfam00307    pfam09068    pfam09069    pfam00435    pfam00397    pfam00569   
Domain families : Smart (EMBL)CH (SM00033)  SPEC (SM00150)  WW (SM00456)  ZnF_ZZ (SM00291)  
Conserved Domain (NCBI)UTRN
DMDM Disease mutations7402
Blocks (Seattle)UTRN
PDB (RSDB)1BHD    1QAG   
PDB Europe1BHD    1QAG   
PDB (PDBSum)1BHD    1QAG   
PDB (IMB)1BHD    1QAG   
Structural Biology KnowledgeBase1BHD    1QAG   
SCOP (Structural Classification of Proteins)1BHD    1QAG   
CATH (Classification of proteins structures)1BHD    1QAG   
SuperfamilyP46939
Human Protein Atlas [tissue]ENSG00000152818-UTRN [tissue]
Peptide AtlasP46939
HPRD00547
IPIIPI00009329   IPI00939218   IPI00514575   IPI00646472   IPI00645974   IPI00641422   IPI00645298   IPI00644833   IPI00644301   
Protein Interaction databases
DIP (DOE-UCLA)P46939
IntAct (EBI)P46939
FunCoupENSG00000152818
BioGRIDUTRN
STRING (EMBL)UTRN
ZODIACUTRN
Ontologies - Pathways
QuickGOP46939
Ontology : AmiGOpositive regulation of cell-matrix adhesion  actin binding  integrin binding  protein binding  nucleoplasm  cytoplasm  cytoskeleton  plasma membrane  muscle contraction  muscle organ development  neuromuscular junction development  zinc ion binding  response to denervation involved in regulation of muscle adaptation  dystrophin-associated glycoprotein complex  membrane  vinculin binding  protein kinase binding  cell junction  filopodium  growth cone  cortical actin cytoskeleton  filopodium membrane  neuromuscular junction  protein-containing complex  sarcolemma  postsynaptic membrane  actin filament binding  extracellular exosome  contractile ring  regulation of sodium ion transmembrane transporter activity  
Ontology : EGO-EBIpositive regulation of cell-matrix adhesion  actin binding  integrin binding  protein binding  nucleoplasm  cytoplasm  cytoskeleton  plasma membrane  muscle contraction  muscle organ development  neuromuscular junction development  zinc ion binding  response to denervation involved in regulation of muscle adaptation  dystrophin-associated glycoprotein complex  membrane  vinculin binding  protein kinase binding  cell junction  filopodium  growth cone  cortical actin cytoskeleton  filopodium membrane  neuromuscular junction  protein-containing complex  sarcolemma  postsynaptic membrane  actin filament binding  extracellular exosome  contractile ring  regulation of sodium ion transmembrane transporter activity  
NDEx NetworkUTRN
Atlas of Cancer Signalling NetworkUTRN
Wikipedia pathwaysUTRN
Orthology - Evolution
OrthoDB7402
GeneTree (enSembl)ENSG00000152818
Phylogenetic Trees/Animal Genes : TreeFamUTRN
HOGENOMP46939
Homologs : HomoloGeneUTRN
Homology/Alignments : Family Browser (UCSC)UTRN
Gene fusions - Rearrangements
Fusion : MitelmanUTRN/SHPRH [6q24.2/6q24.3]  
Fusion : QuiverUTRN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUTRN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UTRN
dbVarUTRN
ClinVarUTRN
1000_GenomesUTRN 
Exome Variant ServerUTRN
ExAC (Exome Aggregation Consortium)ENSG00000152818
GNOMAD BrowserENSG00000152818
Varsome BrowserUTRN
Genetic variants : HAPMAP7402
Genomic Variants (DGV)UTRN [DGVbeta]
DECIPHERUTRN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUTRN 
Mutations
ICGC Data PortalUTRN 
TCGA Data PortalUTRN 
Broad Tumor PortalUTRN
OASIS PortalUTRN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUTRN  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUTRN
Mutations and Diseases : HGMDUTRN
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 UTRN
DgiDB (Drug Gene Interaction Database)UTRN
DoCM (Curated mutations)UTRN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UTRN (select a term)
intoGenUTRN
Cancer3DUTRN(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM128240   
Orphanet
DisGeNETUTRN
MedgenUTRN
Genetic Testing Registry UTRN
NextProtP46939 [Medical]
TSGene7402
GENETestsUTRN
Target ValidationUTRN
Huge Navigator UTRN [HugePedia]
snp3D : Map Gene to Disease7402
BioCentury BCIQUTRN
ClinGenUTRN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7402
Chemical/Pharm GKB GenePA37260
Clinical trialUTRN
Miscellaneous
canSAR (ICR)UTRN (select the gene name)
DataMed IndexUTRN
Probes
Litterature
PubMed120 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUTRN
EVEXUTRN
GoPubMedUTRN
iHOPUTRN
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 : Wed Nov 13 18:14:45 CET 2019
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