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ATXN7L3B (ataxin 7 like 3B)

Identity

Alias_namesataxin 7-like 3B
Alias_symbol (synonym)lnc-SCA7
Other alias
HGNC (Hugo) ATXN7L3B
LocusID (NCBI) 552889
Atlas_Id 54147
Location 12q21.1  [Link to chromosome band 12q21]
Location_base_pair Starts at 74537771 and ends at 74541452 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)
ATXN7L3B (12q21.1) / MRPS22 (3q23)ATXN7L3B (12q21.1) / RPS13 (11p15.1)NELL2 (12q12) / ATXN7L3B (12q21.1)

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

 


External links

Nomenclature
HGNC (Hugo)ATXN7L3B   37931
Cards
Entrez_Gene (NCBI)ATXN7L3B  552889  ataxin 7 like 3B
Aliaseslnc-SCA7
GeneCards (Weizmann)ATXN7L3B
Ensembl hg19 (Hinxton)ENSG00000253719 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000253719 [Gene_View]  chr12:74537771-74541452 [Contig_View]  ATXN7L3B [Vega]
ICGC DataPortalENSG00000253719
TCGA cBioPortalATXN7L3B
AceView (NCBI)ATXN7L3B
Genatlas (Paris)ATXN7L3B
WikiGenes552889
SOURCE (Princeton)ATXN7L3B
Genetics Home Reference (NIH)ATXN7L3B
Genomic and cartography
GoldenPath hg38 (UCSC)ATXN7L3B  -     chr12:74537771-74541452 +  12q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATXN7L3B  -     12q21.1   [Description]    (hg19-Feb_2009)
EnsemblATXN7L3B - 12q21.1 [CytoView hg19]  ATXN7L3B - 12q21.1 [CytoView hg38]
Mapping of homologs : NCBIATXN7L3B [Mapview hg19]  ATXN7L3B [Mapview hg38]
OMIM615579   
Gene and transcription
Genbank (Entrez)AF456479 AK054742 AK056642 AK095526 AL713650
RefSeq transcript (Entrez)NM_001136262
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATXN7L3B
Cluster EST : UnigeneHs.744849 [ NCBI ]
CGAP (NCI)Hs.744849
Alternative Splicing GalleryENSG00000253719
Gene ExpressionATXN7L3B [ NCBI-GEO ]   ATXN7L3B [ EBI - ARRAY_EXPRESS ]   ATXN7L3B [ SEEK ]   ATXN7L3B [ MEM ]
Gene Expression Viewer (FireBrowse)ATXN7L3B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)552889
GTEX Portal (Tissue expression)ATXN7L3B
Human Protein AtlasENSG00000253719-ATXN7L3B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96GX2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96GX2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96GX2
Splice isoforms : SwissVarQ96GX2
PhosPhoSitePlusQ96GX2
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ATXN7L3B
DMDM Disease mutations552889
Blocks (Seattle)ATXN7L3B
SuperfamilyQ96GX2
Human Protein Atlas [tissue]ENSG00000253719-ATXN7L3B [tissue]
Peptide AtlasQ96GX2
IPIIPI00062860   
Protein Interaction databases
DIP (DOE-UCLA)Q96GX2
IntAct (EBI)Q96GX2
FunCoupENSG00000253719
BioGRIDATXN7L3B
STRING (EMBL)ATXN7L3B
ZODIACATXN7L3B
Ontologies - Pathways
QuickGOQ96GX2
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkATXN7L3B
Atlas of Cancer Signalling NetworkATXN7L3B
Wikipedia pathwaysATXN7L3B
Orthology - Evolution
OrthoDB552889
GeneTree (enSembl)ENSG00000253719
Phylogenetic Trees/Animal Genes : TreeFamATXN7L3B
HOVERGENQ96GX2
HOGENOMQ96GX2
Homologs : HomoloGeneATXN7L3B
Homology/Alignments : Family Browser (UCSC)ATXN7L3B
Gene fusions - Rearrangements
Fusion : MitelmanNELL2/ATXN7L3B [12q12/12q21.1]  [del(12)(q12q21)]  
Tumor Fusion PortalATXN7L3B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATXN7L3B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATXN7L3B
dbVarATXN7L3B
ClinVarATXN7L3B
1000_GenomesATXN7L3B 
Exome Variant ServerATXN7L3B
ExAC (Exome Aggregation Consortium)ENSG00000253719
GNOMAD BrowserENSG00000253719
Genetic variants : HAPMAP552889
Genomic Variants (DGV)ATXN7L3B [DGVbeta]
DECIPHERATXN7L3B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATXN7L3B 
Mutations
ICGC Data PortalATXN7L3B 
TCGA Data PortalATXN7L3B 
Broad Tumor PortalATXN7L3B
OASIS PortalATXN7L3B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATXN7L3B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATXN7L3B
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 ATXN7L3B
DgiDB (Drug Gene Interaction Database)ATXN7L3B
DoCM (Curated mutations)ATXN7L3B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATXN7L3B (select a term)
intoGenATXN7L3B
Cancer3DATXN7L3B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615579   
Orphanet
DisGeNETATXN7L3B
MedgenATXN7L3B
Genetic Testing Registry ATXN7L3B
NextProtQ96GX2 [Medical]
TSGene552889
GENETestsATXN7L3B
Target ValidationATXN7L3B
Huge Navigator ATXN7L3B [HugePedia]
snp3D : Map Gene to Disease552889
BioCentury BCIQATXN7L3B
ClinGenATXN7L3B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD552889
Chemical/Pharm GKB GenePA165512339
Clinical trialATXN7L3B
Miscellaneous
canSAR (ICR)ATXN7L3B (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATXN7L3B
EVEXATXN7L3B
GoPubMedATXN7L3B
iHOPATXN7L3B
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 21 14:04:22 CET 2017

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