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TOR1B (torsin family 1 member B)

Identity

Alias_namestorsin family 1, member B (torsin B)
Alias_symbol (synonym)DQ1
MGC4386
Other alias
HGNC (Hugo) TOR1B
LocusID (NCBI) 27348
Atlas_Id 75063
Location 9q34.11  [Link to chromosome band 9q34]
Location_base_pair Starts at 129803143 and ends at 129811289 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TOR1B (9q34.11) / ARHGAP27 (17q21.31)

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)TOR1B   11995
Cards
Entrez_Gene (NCBI)TOR1B  27348  torsin family 1 member B
AliasesDQ1
GeneCards (Weizmann)TOR1B
Ensembl hg19 (Hinxton)ENSG00000136816 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136816 [Gene_View]  chr9:129803143-129811289 [Contig_View]  TOR1B [Vega]
ICGC DataPortalENSG00000136816
TCGA cBioPortalTOR1B
AceView (NCBI)TOR1B
Genatlas (Paris)TOR1B
WikiGenes27348
SOURCE (Princeton)TOR1B
Genetics Home Reference (NIH)TOR1B
Genomic and cartography
GoldenPath hg38 (UCSC)TOR1B  -     chr9:129803143-129811289 +  9q34.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TOR1B  -     9q34.11   [Description]    (hg19-Feb_2009)
EnsemblTOR1B - 9q34.11 [CytoView hg19]  TOR1B - 9q34.11 [CytoView hg38]
Mapping of homologs : NCBITOR1B [Mapview hg19]  TOR1B [Mapview hg38]
OMIM608050   
Gene and transcription
Genbank (Entrez)AF007872 AF317129 AI568476 BC006480 BC015578
RefSeq transcript (Entrez)NM_001317893 NM_001317894 NM_014506
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TOR1B
Cluster EST : UnigeneHs.252682 [ NCBI ]
CGAP (NCI)Hs.252682
Alternative Splicing GalleryENSG00000136816
Gene ExpressionTOR1B [ NCBI-GEO ]   TOR1B [ EBI - ARRAY_EXPRESS ]   TOR1B [ SEEK ]   TOR1B [ MEM ]
Gene Expression Viewer (FireBrowse)TOR1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27348
GTEX Portal (Tissue expression)TOR1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14657   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14657  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14657
Splice isoforms : SwissVarO14657
Catalytic activity : Enzyme3.6.4.- [ Enzyme-Expasy ]   3.6.4.-3.6.4.- [ IntEnz-EBI ]   3.6.4.- [ BRENDA ]   3.6.4.- [ KEGG ]   
PhosPhoSitePlusO14657
Domains : Interpro (EBI)P-loop_NTPase    Torsin    Torsin-1B    Torsin_1/2   
Domain families : Pfam (Sanger)Torsin (PF06309)   
Domain families : Pfam (NCBI)pfam06309   
Conserved Domain (NCBI)TOR1B
DMDM Disease mutations27348
Blocks (Seattle)TOR1B
SuperfamilyO14657
Human Protein AtlasENSG00000136816
Peptide AtlasO14657
HPRD16270
IPIIPI00023137   IPI00941838   IPI00386579   IPI00477672   
Protein Interaction databases
DIP (DOE-UCLA)O14657
IntAct (EBI)O14657
FunCoupENSG00000136816
BioGRIDTOR1B
STRING (EMBL)TOR1B
ZODIACTOR1B
Ontologies - Pathways
QuickGOO14657
Ontology : AmiGOprotein binding  ATP binding  nuclear envelope  endoplasmic reticulum  endoplasmic reticulum lumen  response to unfolded protein  endoplasmic reticulum organization  ATPase activity  nuclear membrane  chaperone mediated protein folding requiring cofactor  protein homooligomerization  extracellular exosome  nuclear membrane organization  
Ontology : EGO-EBIprotein binding  ATP binding  nuclear envelope  endoplasmic reticulum  endoplasmic reticulum lumen  response to unfolded protein  endoplasmic reticulum organization  ATPase activity  nuclear membrane  chaperone mediated protein folding requiring cofactor  protein homooligomerization  extracellular exosome  nuclear membrane organization  
NDEx NetworkTOR1B
Atlas of Cancer Signalling NetworkTOR1B
Wikipedia pathwaysTOR1B
Orthology - Evolution
OrthoDB27348
GeneTree (enSembl)ENSG00000136816
Phylogenetic Trees/Animal Genes : TreeFamTOR1B
HOVERGENO14657
HOGENOMO14657
Homologs : HomoloGeneTOR1B
Homology/Alignments : Family Browser (UCSC)TOR1B
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTOR1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TOR1B
dbVarTOR1B
ClinVarTOR1B
1000_GenomesTOR1B 
Exome Variant ServerTOR1B
ExAC (Exome Aggregation Consortium)TOR1B (select the gene name)
Genetic variants : HAPMAP27348
Genomic Variants (DGV)TOR1B [DGVbeta]
DECIPHERTOR1B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTOR1B 
Mutations
ICGC Data PortalTOR1B 
TCGA Data PortalTOR1B 
Broad Tumor PortalTOR1B
OASIS PortalTOR1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTOR1B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTOR1B
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 TOR1B
DgiDB (Drug Gene Interaction Database)TOR1B
DoCM (Curated mutations)TOR1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TOR1B (select a term)
intoGenTOR1B
Cancer3DTOR1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608050   
Orphanet
MedgenTOR1B
Genetic Testing Registry TOR1B
NextProtO14657 [Medical]
TSGene27348
GENETestsTOR1B
Huge Navigator TOR1B [HugePedia]
snp3D : Map Gene to Disease27348
BioCentury BCIQTOR1B
ClinGenTOR1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27348
Chemical/Pharm GKB GenePA36676
Clinical trialTOR1B
Miscellaneous
canSAR (ICR)TOR1B (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTOR1B
EVEXTOR1B
GoPubMedTOR1B
iHOPTOR1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 11:59:15 CEST 2017

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