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TSC22D1 (TSC22 domain family member 1)

Identity

Alias_namesTGFB1I4
transforming growth factor beta 1 induced transcript 4
TSC22 domain family, member 1
Alias_symbol (synonym)TSC22
MGC17597
Other aliasPtg-2
HGNC (Hugo) TSC22D1
LocusID (NCBI) 8848
Atlas_Id 42536
Location 13q14.11  [Link to chromosome band 13q14]
Location_base_pair Starts at 44432143 and ends at 44437254 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP5A1 (18q21.1) / TSC22D1 (13q14.11)BCL7C (16p11.2) / TSC22D1 (13q14.11)MTF2 (1p22.1) / TSC22D1 (13q14.11)
TSC22D1 (13q14.11) / BOLA2 (16p11.2)TSC22D1 (13q14.11) / BPGM (7q33)TSC22D1 (13q14.11) / DNAJC5B (8q13.1)
TSC22D1 (13q14.11) / IGF2BP2 (3q27.2)TSC22D1 (13q14.11) / ITCH (20q11.22)TSC22D1 (13q14.11) / LETM1 (4p16.3)
TSC22D1 (13q14.11) / MIR548O2 (8p12)TSC22D1 (13q14.11) / PLEKHA5 (12p12.3)TSC22D1 (13q14.11) / TSC22D1 (13q14.11)
TSC22D1 13q14.11 / DNAJC5B 8q13.1TSC22D1 13q14.11 / LETM1 4p16.3TSC22D1 13q14.11 / PLEKHA5 12p12.3

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)TSC22D1   16826
Cards
Entrez_Gene (NCBI)TSC22D1  8848  TSC22 domain family member 1
AliasesPtg-2; TGFB1I4; TSC22
GeneCards (Weizmann)TSC22D1
Ensembl hg19 (Hinxton)ENSG00000102804 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102804 [Gene_View]  chr13:44432143-44437254 [Contig_View]  TSC22D1 [Vega]
ICGC DataPortalENSG00000102804
TCGA cBioPortalTSC22D1
AceView (NCBI)TSC22D1
Genatlas (Paris)TSC22D1
WikiGenes8848
SOURCE (Princeton)TSC22D1
Genetics Home Reference (NIH)TSC22D1
Genomic and cartography
GoldenPath hg38 (UCSC)TSC22D1  -     chr13:44432143-44437254 -  13q14.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TSC22D1  -     13q14.11   [Description]    (hg19-Feb_2009)
EnsemblTSC22D1 - 13q14.11 [CytoView hg19]  TSC22D1 - 13q14.11 [CytoView hg38]
Mapping of homologs : NCBITSC22D1 [Mapview hg19]  TSC22D1 [Mapview hg38]
OMIM607715   
Gene and transcription
Genbank (Entrez)AB082525 AJ222700 AK027071 AK091854 AK290751
RefSeq transcript (Entrez)NM_001243797 NM_001243798 NM_001243799 NM_006022 NM_183422
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TSC22D1
Cluster EST : UnigeneHs.436383 [ NCBI ]
CGAP (NCI)Hs.436383
Alternative Splicing GalleryENSG00000102804
Gene ExpressionTSC22D1 [ NCBI-GEO ]   TSC22D1 [ EBI - ARRAY_EXPRESS ]   TSC22D1 [ SEEK ]   TSC22D1 [ MEM ]
Gene Expression Viewer (FireBrowse)TSC22D1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8848
GTEX Portal (Tissue expression)TSC22D1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15714   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15714  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15714
Splice isoforms : SwissVarQ15714
PhosPhoSitePlusQ15714
Domaine pattern : Prosite (Expaxy)TSC22 (PS01289)   
Domains : Interpro (EBI)TSC-22_Dip_Bun   
Domain families : Pfam (Sanger)TSC22 (PF01166)   
Domain families : Pfam (NCBI)pfam01166   
Domain structure : Prodom (Prabi Lyon)TSC-22_Dip_Bun (PD007152)   
Conserved Domain (NCBI)TSC22D1
DMDM Disease mutations8848
Blocks (Seattle)TSC22D1
SuperfamilyQ15714
Human Protein AtlasENSG00000102804
Peptide AtlasQ15714
HPRD07414
IPIIPI00301610   IPI00019355   IPI00942808   IPI00903210   IPI00947351   IPI00945277   
Protein Interaction databases
DIP (DOE-UCLA)Q15714
IntAct (EBI)Q15714
FunCoupENSG00000102804
BioGRIDTSC22D1
STRING (EMBL)TSC22D1
ZODIACTSC22D1
Ontologies - Pathways
QuickGOQ15714
Ontology : AmiGOtranscription factor activity, sequence-specific DNA binding  protein binding  nucleus  cytoplasm  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  protein dimerization activity  
Ontology : EGO-EBItranscription factor activity, sequence-specific DNA binding  protein binding  nucleus  cytoplasm  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  protein dimerization activity  
NDEx NetworkTSC22D1
Atlas of Cancer Signalling NetworkTSC22D1
Wikipedia pathwaysTSC22D1
Orthology - Evolution
OrthoDB8848
GeneTree (enSembl)ENSG00000102804
Phylogenetic Trees/Animal Genes : TreeFamTSC22D1
HOVERGENQ15714
HOGENOMQ15714
Homologs : HomoloGeneTSC22D1
Homology/Alignments : Family Browser (UCSC)TSC22D1
Gene fusions - Rearrangements
Fusion : MitelmanTSC22D1/DNAJC5B [13q14.11/8q13.1]  
Fusion : MitelmanTSC22D1/LETM1 [13q14.11/4p16.3]  [t(4;13)(p16;q14)]  
Fusion : MitelmanTSC22D1/PLEKHA5 [13q14.11/12p12.3]  [t(12;13)(p12;q14)]  
Fusion: TCGATSC22D1 13q14.11 DNAJC5B 8q13.1 BRCA
Fusion: TCGATSC22D1 13q14.11 LETM1 4p16.3 HNSC
Fusion: TCGATSC22D1 13q14.11 PLEKHA5 12p12.3 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTSC22D1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TSC22D1
dbVarTSC22D1
ClinVarTSC22D1
1000_GenomesTSC22D1 
Exome Variant ServerTSC22D1
ExAC (Exome Aggregation Consortium)TSC22D1 (select the gene name)
Genetic variants : HAPMAP8848
Genomic Variants (DGV)TSC22D1 [DGVbeta]
DECIPHERTSC22D1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTSC22D1 
Mutations
ICGC Data PortalTSC22D1 
TCGA Data PortalTSC22D1 
Broad Tumor PortalTSC22D1
OASIS PortalTSC22D1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTSC22D1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTSC22D1
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 TSC22D1
DgiDB (Drug Gene Interaction Database)TSC22D1
DoCM (Curated mutations)TSC22D1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TSC22D1 (select a term)
intoGenTSC22D1
Cancer3DTSC22D1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607715   
Orphanet
MedgenTSC22D1
Genetic Testing Registry TSC22D1
NextProtQ15714 [Medical]
TSGene8848
GENETestsTSC22D1
Target ValidationTSC22D1
Huge Navigator TSC22D1 [HugePedia]
snp3D : Map Gene to Disease8848
BioCentury BCIQTSC22D1
ClinGenTSC22D1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8848
Chemical/Pharm GKB GenePA134887618
Clinical trialTSC22D1
Miscellaneous
canSAR (ICR)TSC22D1 (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTSC22D1
EVEXTSC22D1
GoPubMedTSC22D1
iHOPTSC22D1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:36:30 CEST 2017

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