Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SKIV2L (Ski2 like RNA helicase)

Identity

Alias (NCBI)170A
DDX13
HLP
SKI2
SKI2W
SKIV2
SKIV2L1
THES2
HGNC (Hugo) SKIV2L
HGNC Alias symbHLP
DDX13
SKI2W
170A
SKIV2L1
HGNC Previous nameSKIV2
HGNC Previous namesuperkiller viralicidic activity 2 (S. cerevisiae homolog)-like
 superkiller viralicidic activity 2-like (S. cerevisiae)
 SKI2 homolog, superkiller viralicidic activity 2-like
LocusID (NCBI) 6499
Atlas_Id 46858
Location 6p21.33  [Link to chromosome band 6p21]
Location_base_pair Starts at 31959175 and ends at 31969750 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)
SKIV2L (6p21.33) / ABCA8 (17q24.2)SKIV2L (6p21.33) / MSH5 (6p21.33)SKIV2L (6p21.33) / SKIV2L (6p21.33)
SKIV2L 6p21.33 / MSH5 6p21.33

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) [ 1 ]
  SKIV2L/MSH5 (6p21)

External links

Nomenclature
HGNC (Hugo)SKIV2L   10898
Cards
Entrez_Gene (NCBI)SKIV2L  6499  Ski2 like RNA helicase
Aliases170A; DDX13; HLP; SKI2; 
SKI2W; SKIV2; SKIV2L1; THES2
GeneCards (Weizmann)SKIV2L
Ensembl hg19 (Hinxton)ENSG00000204351 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204351 [Gene_View]  ENSG00000204351 [Sequence]  chr6:31959175-31969750 [Contig_View]  SKIV2L [Vega]
ICGC DataPortalENSG00000204351
TCGA cBioPortalSKIV2L
AceView (NCBI)SKIV2L
Genatlas (Paris)SKIV2L
WikiGenes6499
SOURCE (Princeton)SKIV2L
Genetics Home Reference (NIH)SKIV2L
Genomic and cartography
GoldenPath hg38 (UCSC)SKIV2L  -     chr6:31959175-31969750 +  6p21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SKIV2L  -     6p21.33   [Description]    (hg19-Feb_2009)
GoldenPathSKIV2L - 6p21.33 [CytoView hg19]  SKIV2L - 6p21.33 [CytoView hg38]
ImmunoBaseENSG00000204351
genome Data Viewer NCBISKIV2L [Mapview hg19]  
OMIM600478   614602   
Gene and transcription
Genbank (Entrez)AB209605 AK293881 AK297230 AK299967 AK303302
RefSeq transcript (Entrez)NM_006929
RefSeq genomic (Entrez)NC_000006 NG_032652 NT_113891 NT_167245 NT_167247 NT_167248 NT_167249
Consensus coding sequences : CCDS (NCBI)SKIV2L
Alternative Splicing GalleryENSG00000204351
Gene ExpressionSKIV2L [ NCBI-GEO ]   SKIV2L [ EBI - ARRAY_EXPRESS ]   SKIV2L [ SEEK ]   SKIV2L [ MEM ]
Gene Expression Viewer (FireBrowse)SKIV2L [ Firebrowse - Broad ]
GenevisibleExpression of SKIV2L in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6499
GTEX Portal (Tissue expression)SKIV2L
Human Protein AtlasENSG00000204351-SKIV2L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15477   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15477  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15477
Splice isoforms : SwissVarQ15477
Catalytic activity : Enzyme3.6.4.- [ Enzyme-Expasy ]   3.6.4.-3.6.4.- [ IntEnz-EBI ]   3.6.4.- [ BRENDA ]   3.6.4.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ15477
Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (EBI)DEAD/DEAH_box_helicase_dom    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    rRNA_proc-arch_dom    Ski2-like    Ski2_C    Ski2_N   
Domain families : Pfam (Sanger)DEAD (PF00270)    DSHCT (PF08148)    Helicase_C (PF00271)    rRNA_proc-arch (PF13234)    Ski2_N (PF17911)   
Domain families : Pfam (NCBI)pfam00270    pfam08148    pfam00271    pfam13234    pfam17911   
Domain families : Smart (EMBL)DEXDc (SM00487)  DSHCT (SM01142)  HELICc (SM00490)  
Conserved Domain (NCBI)SKIV2L
DMDM Disease mutations6499
Blocks (Seattle)SKIV2L
SuperfamilyQ15477
Human Protein Atlas [tissue]ENSG00000204351-SKIV2L [tissue]
Peptide AtlasQ15477
HPRD02724
IPIIPI00414819   IPI01014021   IPI00946735   IPI01021910   IPI01022196   IPI00945125   IPI00645082   IPI00909115   IPI00947268   
Protein Interaction databases
DIP (DOE-UCLA)Q15477
IntAct (EBI)Q15477
FunCoupENSG00000204351
BioGRIDSKIV2L
STRING (EMBL)SKIV2L
ZODIACSKIV2L
Ontologies - Pathways
QuickGOQ15477
Ontology : AmiGORNA binding  RNA helicase activity  ATP binding  nucleus  cytosol  RNA catabolic process  exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay  Ski complex  Ski complex  nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay  
Ontology : EGO-EBIRNA binding  RNA helicase activity  ATP binding  nucleus  cytosol  RNA catabolic process  exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay  Ski complex  Ski complex  nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay  
Pathways : KEGGRNA degradation   
NDEx NetworkSKIV2L
Atlas of Cancer Signalling NetworkSKIV2L
Wikipedia pathwaysSKIV2L
Orthology - Evolution
OrthoDB6499
GeneTree (enSembl)ENSG00000204351
Phylogenetic Trees/Animal Genes : TreeFamSKIV2L
HOGENOMQ15477
Homologs : HomoloGeneSKIV2L
Homology/Alignments : Family Browser (UCSC)SKIV2L
Gene fusions - Rearrangements
Fusion : MitelmanSKIV2L/MSH5 [6p21.33/6p21.33]  
Fusion PortalSKIV2L 6p21.33 MSH5 6p21.33 BRCA
Fusion : QuiverSKIV2L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSKIV2L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SKIV2L
dbVarSKIV2L
ClinVarSKIV2L
MonarchSKIV2L
1000_GenomesSKIV2L 
Exome Variant ServerSKIV2L
GNOMAD BrowserENSG00000204351
Varsome BrowserSKIV2L
Genetic variants : HAPMAP6499
Genomic Variants (DGV)SKIV2L [DGVbeta]
DECIPHERSKIV2L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSKIV2L 
Mutations
ICGC Data PortalSKIV2L 
TCGA Data PortalSKIV2L 
Broad Tumor PortalSKIV2L
OASIS PortalSKIV2L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSKIV2L  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSKIV2L
Mutations and Diseases : HGMDSKIV2L
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
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch SKIV2L
DgiDB (Drug Gene Interaction Database)SKIV2L
DoCM (Curated mutations)SKIV2L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SKIV2L (select a term)
intoGenSKIV2L
Cancer3DSKIV2L(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600478    614602   
Orphanet11605   
DisGeNETSKIV2L
MedgenSKIV2L
Genetic Testing Registry SKIV2L
NextProtQ15477 [Medical]
TSGene6499
GENETestsSKIV2L
Target ValidationSKIV2L
Huge Navigator SKIV2L [HugePedia]
snp3D : Map Gene to Disease6499
BioCentury BCIQSKIV2L
ClinGenSKIV2L
Clinical trials, drugs, therapy
Protein Interactions : CTD6499
Pharm GKB GenePA35798
Clinical trialSKIV2L
Miscellaneous
canSAR (ICR)SKIV2L (select the gene name)
HarmonizomeSKIV2L
DataMed IndexSKIV2L
Probes
Litterature
PubMed69 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSKIV2L
EVEXSKIV2L
GoPubMedSKIV2L
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 Sep 14 14:32:34 CEST 2020
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