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TWNK (twinkle mtDNA helicase)

Identity

Alias_namesIOSCA
C10orf2
infantile onset spinocerebellar ataxia (autosomal recessive)
chromosome 10 open reading frame 2
Alias_symbol (synonym)PEO
PEO1
TWINKLE
FLJ21832
TWINL
Other aliasATXN8
MTDPS7
PEOA3
PRLTS5
SANDO
SCA8
HGNC (Hugo) TWNK
LocusID (NCBI) 56652
Atlas_Id 56615
Location 10q24.31  [Link to chromosome band 10q24]
Location_base_pair Starts at 100987536 and ends at 100994401 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)

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)TWNK   1160
Cards
Entrez_Gene (NCBI)TWNK  56652  twinkle mtDNA helicase
AliasesATXN8; C10orf2; IOSCA; MTDPS7; 
PEO; PEO1; PEOA3; PRLTS5; SANDO; SCA8; TWINL
GeneCards (Weizmann)TWNK
Ensembl hg19 (Hinxton)ENSG00000107815 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107815 [Gene_View]  ENSG00000107815 [Sequence]  chr10:100987536-100994401 [Contig_View]  TWNK [Vega]
ICGC DataPortalENSG00000107815
TCGA cBioPortalTWNK
AceView (NCBI)TWNK
Genatlas (Paris)TWNK
WikiGenes56652
SOURCE (Princeton)TWNK
Genetics Home Reference (NIH)TWNK
Genomic and cartography
GoldenPath hg38 (UCSC)TWNK  -     chr10:100987536-100994401 +  10q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TWNK  -     10q24.31   [Description]    (hg19-Feb_2009)
EnsemblTWNK - 10q24.31 [CytoView hg19]  TWNK - 10q24.31 [CytoView hg38]
Mapping of homologs : NCBITWNK [Mapview hg19]  TWNK [Mapview hg38]
OMIM271245   606075   607459   609286   616138   
Gene and transcription
Genbank (Entrez)AF292004 AF292005 AK022959 AK025485 AK297068
RefSeq transcript (Entrez)NM_001163812 NM_001163813 NM_001163814 NM_021830
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TWNK
Cluster EST : UnigeneHs.22678 [ NCBI ]
CGAP (NCI)Hs.22678
Alternative Splicing GalleryENSG00000107815
Gene ExpressionTWNK [ NCBI-GEO ]   TWNK [ EBI - ARRAY_EXPRESS ]   TWNK [ SEEK ]   TWNK [ MEM ]
Gene Expression Viewer (FireBrowse)TWNK [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56652
GTEX Portal (Tissue expression)TWNK
Human Protein AtlasENSG00000107815-TWNK [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96RR1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96RR1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96RR1
Splice isoforms : SwissVarQ96RR1
Catalytic activity : Enzyme3.6.4.12 [ Enzyme-Expasy ]   3.6.4.123.6.4.12 [ IntEnz-EBI ]   3.6.4.12 [ BRENDA ]   3.6.4.12 [ KEGG ]   
PhosPhoSitePlusQ96RR1
Domaine pattern : Prosite (Expaxy)SF4_HELICASE (PS51199)   
Domains : Interpro (EBI)DNA_helicase_DnaB-like_C    P-loop_NTPase    TOPRIM_DnaG/twinkle   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)TWNK
DMDM Disease mutations56652
Blocks (Seattle)TWNK
SuperfamilyQ96RR1
Human Protein Atlas [tissue]ENSG00000107815-TWNK [tissue]
Peptide AtlasQ96RR1
HPRD05830
IPIIPI00102660   IPI00640641   IPI00654621   IPI00943680   IPI00943723   
Protein Interaction databases
DIP (DOE-UCLA)Q96RR1
IntAct (EBI)Q96RR1
FunCoupENSG00000107815
BioGRIDTWNK
STRING (EMBL)TWNK
ZODIACTWNK
Ontologies - Pathways
QuickGOQ96RR1
Ontology : AmiGOprotease binding  single-stranded DNA binding  ATP binding  mitochondrial matrix  mitochondrial DNA replication  mitochondrial DNA replication  DNA unwinding involved in DNA replication  mitochondrial transcription  mitochondrion organization  protein hexamerization  mitochondrial nucleoid  5'-3' DNA helicase activity  protein homooligomerization  cellular response to glucose stimulus  
Ontology : EGO-EBIprotease binding  single-stranded DNA binding  ATP binding  mitochondrial matrix  mitochondrial DNA replication  mitochondrial DNA replication  DNA unwinding involved in DNA replication  mitochondrial transcription  mitochondrion organization  protein hexamerization  mitochondrial nucleoid  5'-3' DNA helicase activity  protein homooligomerization  cellular response to glucose stimulus  
NDEx NetworkTWNK
Atlas of Cancer Signalling NetworkTWNK
Wikipedia pathwaysTWNK
Orthology - Evolution
OrthoDB56652
GeneTree (enSembl)ENSG00000107815
Phylogenetic Trees/Animal Genes : TreeFamTWNK
HOGENOMQ96RR1
Homologs : HomoloGeneTWNK
Homology/Alignments : Family Browser (UCSC)TWNK
Gene fusions - Rearrangements
Fusion : QuiverTWNK
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTWNK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TWNK
dbVarTWNK
ClinVarTWNK
1000_GenomesTWNK 
Exome Variant ServerTWNK
ExAC (Exome Aggregation Consortium)ENSG00000107815
GNOMAD BrowserENSG00000107815
Varsome BrowserTWNK
Genetic variants : HAPMAP56652
Genomic Variants (DGV)TWNK [DGVbeta]
DECIPHERTWNK [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTWNK 
Mutations
ICGC Data PortalTWNK 
TCGA Data PortalTWNK 
Broad Tumor PortalTWNK
OASIS PortalTWNK [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDTWNK
BioMutasearch TWNK
DgiDB (Drug Gene Interaction Database)TWNK
DoCM (Curated mutations)TWNK (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TWNK (select a term)
intoGenTWNK
Cancer3DTWNK(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM271245    606075    607459    609286    616138   
Orphanet
DisGeNETTWNK
MedgenTWNK
Genetic Testing Registry TWNK
NextProtQ96RR1 [Medical]
TSGene56652
GENETestsTWNK
Target ValidationTWNK
Huge Navigator TWNK [HugePedia]
snp3D : Map Gene to Disease56652
BioCentury BCIQTWNK
ClinGenTWNK
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56652
Chemical/Pharm GKB GenePA162377675
Clinical trialTWNK
Miscellaneous
canSAR (ICR)TWNK (select the gene name)
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTWNK
EVEXTWNK
GoPubMedTWNK
iHOPTWNK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Dec 21 16:00:21 CET 2018
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