Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC29A1 (solute carrier family 29 member 1 (Augustine blood group))

Identity

Alias_namesENT1
solute carrier family 29 (equilibrative nucleoside transporter)
Other alias
HGNC (Hugo) SLC29A1
LocusID (NCBI) 2030
Atlas_Id 46530
Location 6p21.1  [Link to chromosome band 6p21]
Location_base_pair Starts at 44219505 and ends at 44234151 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)
HSP90AB1 (6p21.1) / SLC29A1 (6p21.1)NFKBIE (6p21.1) / SLC29A1 (6p21.1)SLC29A1 (6p21.1) / HSP90AB1 (6p21.1)
HSP90AB1 6p21.1 / SLC29A1 6p21.1NFKBIE 6p21.1 / SLC29A1 6p21.1

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(6;6)(p21;p21) SLC29A1/HSP90AB1


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 8 ]
  HSP90AB1/SLC29A1 (6p21)
NFKBIE/SLC29A1 (6p21)
SLC29A1/HSP90AB1 (6p21)
SLC29A1/HSP90AB1 (6p21)
SLC29A1/HSP90AB1 (6p21)
SLC29A1/HSP90AB1 (6p21)
SLC29A1/HSP90AB1 (6p21)
SLC29A1/HSP90AB1 (6p21)


External links

Nomenclature
HGNC (Hugo)SLC29A1   11003
LRG (Locus Reference Genomic)LRG_1027
Cards
Entrez_Gene (NCBI)SLC29A1  2030  solute carrier family 29 member 1 (Augustine blood group)
AliasesENT1
GeneCards (Weizmann)SLC29A1
Ensembl hg19 (Hinxton)ENSG00000112759 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112759 [Gene_View]  ENSG00000112759 [Sequence]  chr6:44219505-44234151 [Contig_View]  SLC29A1 [Vega]
ICGC DataPortalENSG00000112759
TCGA cBioPortalSLC29A1
AceView (NCBI)SLC29A1
Genatlas (Paris)SLC29A1
WikiGenes2030
SOURCE (Princeton)SLC29A1
Genetics Home Reference (NIH)SLC29A1
Genomic and cartography
GoldenPath hg38 (UCSC)SLC29A1  -     chr6:44219505-44234151 +  6p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC29A1  -     6p21.1   [Description]    (hg19-Feb_2009)
EnsemblSLC29A1 - 6p21.1 [CytoView hg19]  SLC29A1 - 6p21.1 [CytoView hg38]
Mapping of homologs : NCBISLC29A1 [Mapview hg19]  SLC29A1 [Mapview hg38]
OMIM602193   
Gene and transcription
Genbank (Entrez)AB490708 AB490709 AF079117 AK090491 AK090615
RefSeq transcript (Entrez)NM_001078174 NM_001078175 NM_001078176 NM_001078177 NM_001304462 NM_001304463 NM_001304465 NM_001304466 NM_004955
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC29A1
Cluster EST : UnigeneHs.25450 [ NCBI ]
CGAP (NCI)Hs.25450
Alternative Splicing GalleryENSG00000112759
Gene ExpressionSLC29A1 [ NCBI-GEO ]   SLC29A1 [ EBI - ARRAY_EXPRESS ]   SLC29A1 [ SEEK ]   SLC29A1 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC29A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2030
GTEX Portal (Tissue expression)SLC29A1
Human Protein AtlasENSG00000112759-SLC29A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99808   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99808  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99808
Splice isoforms : SwissVarQ99808
PhosPhoSitePlusQ99808
Domains : Interpro (EBI)ENT1    ENT1/ENT2    Eqnu_transpt    MFS_trans_sf   
Domain families : Pfam (Sanger)Nucleoside_tran (PF01733)   
Domain families : Pfam (NCBI)pfam01733   
Conserved Domain (NCBI)SLC29A1
DMDM Disease mutations2030
Blocks (Seattle)SLC29A1
SuperfamilyQ99808
Human Protein Atlas [tissue]ENSG00000112759-SLC29A1 [tissue]
Peptide AtlasQ99808
HPRD03724
IPIIPI00939219   IPI00550382   IPI00922232   
Protein Interaction databases
DIP (DOE-UCLA)Q99808
IntAct (EBI)Q99808
FunCoupENSG00000112759
BioGRIDSLC29A1
STRING (EMBL)SLC29A1
ZODIACSLC29A1
Ontologies - Pathways
QuickGOQ99808
Ontology : AmiGOnucleoside transmembrane transporter activity  nucleoside transmembrane transporter activity  plasma membrane  plasma membrane  integral component of plasma membrane  nucleobase-containing compound metabolic process  lactation  nucleoside transport  uridine transport  membrane  basolateral plasma membrane  apical plasma membrane  sleep  excitatory postsynaptic potential  cellular response to glucose stimulus  cellular response to hypoxia  presynapse  postsynapse  neurotransmitter reuptake  nucleoside transmembrane transport  
Ontology : EGO-EBInucleoside transmembrane transporter activity  nucleoside transmembrane transporter activity  plasma membrane  plasma membrane  integral component of plasma membrane  nucleobase-containing compound metabolic process  lactation  nucleoside transport  uridine transport  membrane  basolateral plasma membrane  apical plasma membrane  sleep  excitatory postsynaptic potential  cellular response to glucose stimulus  cellular response to hypoxia  presynapse  postsynapse  neurotransmitter reuptake  nucleoside transmembrane transport  
Pathways : KEGGAlcoholism   
NDEx NetworkSLC29A1
Atlas of Cancer Signalling NetworkSLC29A1
Wikipedia pathwaysSLC29A1
Orthology - Evolution
OrthoDB2030
GeneTree (enSembl)ENSG00000112759
Phylogenetic Trees/Animal Genes : TreeFamSLC29A1
HOVERGENQ99808
HOGENOMQ99808
Homologs : HomoloGeneSLC29A1
Homology/Alignments : Family Browser (UCSC)SLC29A1
Gene fusions - Rearrangements
Fusion : MitelmanHSP90AB1/SLC29A1 [6p21.1/6p21.1]  [t(6;6)(p21;p21)]  
Fusion : MitelmanNFKBIE/SLC29A1 [6p21.1/6p21.1]  [t(6;6)(p21;p21)]  
Fusion : MitelmanSLC29A1/HSP90AB1 [6p21.1/6p21.1]  [t(6;6)(p21;p21)]  
Fusion PortalHSP90AB1 6p21.1 SLC29A1 6p21.1 BRCA
Fusion PortalNFKBIE 6p21.1 SLC29A1 6p21.1 KIRC
Fusion : QuiverSLC29A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC29A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC29A1
dbVarSLC29A1
ClinVarSLC29A1
1000_GenomesSLC29A1 
Exome Variant ServerSLC29A1
ExAC (Exome Aggregation Consortium)ENSG00000112759
GNOMAD BrowserENSG00000112759
Varsome BrowserSLC29A1
Genetic variants : HAPMAP2030
Genomic Variants (DGV)SLC29A1 [DGVbeta]
DECIPHERSLC29A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC29A1 
Mutations
ICGC Data PortalSLC29A1 
TCGA Data PortalSLC29A1 
Broad Tumor PortalSLC29A1
OASIS PortalSLC29A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC29A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC29A1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SLC29A1
DgiDB (Drug Gene Interaction Database)SLC29A1
DoCM (Curated mutations)SLC29A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC29A1 (select a term)
intoGenSLC29A1
Cancer3DSLC29A1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602193   
Orphanet
DisGeNETSLC29A1
MedgenSLC29A1
Genetic Testing Registry SLC29A1
NextProtQ99808 [Medical]
TSGene2030
GENETestsSLC29A1
Target ValidationSLC29A1
Huge Navigator SLC29A1 [HugePedia]
snp3D : Map Gene to Disease2030
BioCentury BCIQSLC29A1
ClinGenSLC29A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2030
Chemical/Pharm GKB GenePA154
Clinical trialSLC29A1
Miscellaneous
canSAR (ICR)SLC29A1 (select the gene name)
Probes
Litterature
PubMed148 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC29A1
EVEXSLC29A1
GoPubMedSLC29A1
iHOPSLC29A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:39:45 CET 2018

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