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THSD7B (thrombospondin, type I, domain containing 7B)

Identity

Alias_symbol (synonym)KIAA1679
Other alias-
HGNC (Hugo) THSD7B
LocusID (NCBI) 80731
Atlas_Id 74688
Location 2q22.1  [Link to chromosome band 2q22]
Location_base_pair Starts at 137748462 and ends at 138435287 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DARS (2q21.3) / THSD7B (2q22.1)EPC2 (2q23.1) / THSD7B (2q22.1)STAM2 (2q23.3) / THSD7B (2q22.1)
THSD7B (2q22.1) / DARS (2q21.3)THSD7B (2q22.1) / NCOA2 (8q13.3)EPC2 THSD7B
STAM2 THSD7B

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)THSD7B   29348
Cards
Entrez_Gene (NCBI)THSD7B  80731  thrombospondin, type I, domain containing 7B
Aliases
GeneCards (Weizmann)THSD7B
Ensembl hg19 (Hinxton)ENSG00000144229 [Gene_View]  chr2:137748462-138435287 [Contig_View]  THSD7B [Vega]
Ensembl hg38 (Hinxton)ENSG00000144229 [Gene_View]  chr2:137748462-138435287 [Contig_View]  THSD7B [Vega]
ICGC DataPortalENSG00000144229
TCGA cBioPortalTHSD7B
AceView (NCBI)THSD7B
Genatlas (Paris)THSD7B
WikiGenes80731
SOURCE (Princeton)THSD7B
Genetics Home Reference (NIH)THSD7B
Genomic and cartography
GoldenPath hg19 (UCSC)THSD7B  -     chr2:137748462-138435287 +  2q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)THSD7B  -     2q22.1   [Description]    (hg38-Dec_2013)
EnsemblTHSD7B - 2q22.1 [CytoView hg19]  THSD7B - 2q22.1 [CytoView hg38]
Mapping of homologs : NCBITHSD7B [Mapview hg19]  THSD7B [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB051466 AK299929 BC019344 BC033125
RefSeq transcript (Entrez)NM_001080427
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929304
Consensus coding sequences : CCDS (NCBI)THSD7B
Cluster EST : UnigeneHs.68533 [ NCBI ]
CGAP (NCI)Hs.68533
Alternative Splicing GalleryENSG00000144229
Gene ExpressionTHSD7B [ NCBI-GEO ]   THSD7B [ EBI - ARRAY_EXPRESS ]   THSD7B [ SEEK ]   THSD7B [ MEM ]
Gene Expression Viewer (FireBrowse)THSD7B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80731
GTEX Portal (Tissue expression)THSD7B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9C0I4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9C0I4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9C0I4
Splice isoforms : SwissVarQ9C0I4
PhosPhoSitePlusQ9C0I4
Domaine pattern : Prosite (Expaxy)TSP1 (PS50092)   
Domains : Interpro (EBI)Thrombospondin_1_rpt   
Domain families : Pfam (Sanger)TSP_1 (PF00090)   
Domain families : Pfam (NCBI)pfam00090   
Domain families : Smart (EMBL)TSP1 (SM00209)  
Conserved Domain (NCBI)THSD7B
DMDM Disease mutations80731
Blocks (Seattle)THSD7B
SuperfamilyQ9C0I4
Human Protein AtlasENSG00000144229
Peptide AtlasQ9C0I4
IPIIPI00908839   IPI01018969   IPI00028492   
Protein Interaction databases
DIP (DOE-UCLA)Q9C0I4
IntAct (EBI)Q9C0I4
FunCoupENSG00000144229
BioGRIDTHSD7B
STRING (EMBL)THSD7B
ZODIACTHSD7B
Ontologies - Pathways
QuickGOQ9C0I4
Ontology : AmiGOintegral component of membrane  
Ontology : EGO-EBIintegral component of membrane  
NDEx NetworkTHSD7B
Atlas of Cancer Signalling NetworkTHSD7B
Wikipedia pathwaysTHSD7B
Orthology - Evolution
OrthoDB80731
GeneTree (enSembl)ENSG00000144229
Phylogenetic Trees/Animal Genes : TreeFamTHSD7B
HOVERGENQ9C0I4
HOGENOMQ9C0I4
Homologs : HomoloGeneTHSD7B
Homology/Alignments : Family Browser (UCSC)THSD7B
Gene fusions - Rearrangements
Fusion: TCGAEPC2 THSD7B
Fusion: TCGASTAM2 THSD7B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTHSD7B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)THSD7B
dbVarTHSD7B
ClinVarTHSD7B
1000_GenomesTHSD7B 
Exome Variant ServerTHSD7B
ExAC (Exome Aggregation Consortium)THSD7B (select the gene name)
Genetic variants : HAPMAP80731
Genomic Variants (DGV)THSD7B [DGVbeta]
DECIPHER (Syndromes)2:137748462-138435287  ENSG00000144229
CONAN: Copy Number AnalysisTHSD7B 
Mutations
ICGC Data PortalTHSD7B 
TCGA Data PortalTHSD7B 
Broad Tumor PortalTHSD7B
OASIS PortalTHSD7B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTHSD7B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTHSD7B
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 THSD7B
DgiDB (Drug Gene Interaction Database)THSD7B
DoCM (Curated mutations)THSD7B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)THSD7B (select a term)
intoGenTHSD7B
Cancer3DTHSD7B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenTHSD7B
Genetic Testing Registry THSD7B
NextProtQ9C0I4 [Medical]
TSGene80731
GENETestsTHSD7B
Huge Navigator THSD7B [HugePedia]
snp3D : Map Gene to Disease80731
BioCentury BCIQTHSD7B
ClinGenTHSD7B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80731
Chemical/Pharm GKB GenePA162405776
Clinical trialTHSD7B
Miscellaneous
canSAR (ICR)THSD7B (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTHSD7B
EVEXTHSD7B
GoPubMedTHSD7B
iHOPTHSD7B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:48:05 CET 2017

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