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TSPEAR (thrombospondin type laminin G domain and EAR repeats)

Identity

Alias_namesC21orf29
DFNB98
chromosome 21 open reading frame 29
deafness, autosomal recessive 98
Alias_symbol (synonym)MGC11251
TSP-EAR
Other alias
HGNC (Hugo) TSPEAR
LocusID (NCBI) 54084
Atlas_Id 75242
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 44497892 and ends at 44711580 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)
RUNX1 (21q22.12) / TSPEAR (21q22.3)TSPEAR (21q22.3) / TSPEAR (21q22.3)

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)TSPEAR   1268
Cards
Entrez_Gene (NCBI)TSPEAR  54084  thrombospondin type laminin G domain and EAR repeats
AliasesC21orf29; DFNB98; TSP-EAR
GeneCards (Weizmann)TSPEAR
Ensembl hg19 (Hinxton)ENSG00000175894 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000175894 [Gene_View]  chr21:44497892-44711580 [Contig_View]  TSPEAR [Vega]
ICGC DataPortalENSG00000175894
TCGA cBioPortalTSPEAR
AceView (NCBI)TSPEAR
Genatlas (Paris)TSPEAR
WikiGenes54084
SOURCE (Princeton)TSPEAR
Genetics Home Reference (NIH)TSPEAR
Genomic and cartography
GoldenPath hg38 (UCSC)TSPEAR  -     chr21:44497892-44711580 -  21q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TSPEAR  -     21q22.3   [Description]    (hg19-Feb_2009)
EnsemblTSPEAR - 21q22.3 [CytoView hg19]  TSPEAR - 21q22.3 [CytoView hg38]
Mapping of homologs : NCBITSPEAR [Mapview hg19]  TSPEAR [Mapview hg38]
OMIM612920   614861   
Gene and transcription
Genbank (Entrez)AJ487962 BC021197 BC115414 BC115415
RefSeq transcript (Entrez)NM_001272037 NM_144991
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TSPEAR
Cluster EST : UnigeneHs.660703 [ NCBI ]
CGAP (NCI)Hs.660703
Alternative Splicing GalleryENSG00000175894
Gene ExpressionTSPEAR [ NCBI-GEO ]   TSPEAR [ EBI - ARRAY_EXPRESS ]   TSPEAR [ SEEK ]   TSPEAR [ MEM ]
Gene Expression Viewer (FireBrowse)TSPEAR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54084
GTEX Portal (Tissue expression)TSPEAR
Human Protein AtlasENSG00000175894-TSPEAR [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WU66   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WU66  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WU66
Splice isoforms : SwissVarQ8WU66
PhosPhoSitePlusQ8WU66
Domaine pattern : Prosite (Expaxy)EAR (PS50912)   
Domains : Interpro (EBI)ConA-like_dom    EAR    EPTP    Laminin_G   
Domain families : Pfam (Sanger)EPTP (PF03736)   
Domain families : Pfam (NCBI)pfam03736   
Domain families : Smart (EMBL)TSPN (SM00210)  
Conserved Domain (NCBI)TSPEAR
DMDM Disease mutations54084
Blocks (Seattle)TSPEAR
SuperfamilyQ8WU66
Human Protein Atlas [tissue]ENSG00000175894-TSPEAR [tissue]
Peptide AtlasQ8WU66
HPRD09845
IPIIPI00942229   IPI00216782   IPI00784457   
Protein Interaction databases
DIP (DOE-UCLA)Q8WU66
IntAct (EBI)Q8WU66
FunCoupENSG00000175894
BioGRIDTSPEAR
STRING (EMBL)TSPEAR
ZODIACTSPEAR
Ontologies - Pathways
QuickGOA HREF=http://www.ebi.ac.uk/QuickGO/GProtein?ac=Q8WU66 TARGET=GO>Q8WU66
Ontology : AmiGOmolecular_function  extracellular region  sensory perception of sound  cell surface  stereocilium  ciliary membrane  
Ontology : EGO-EBImolecular_function  extracellular region  sensory perception of sound  cell surface  stereocilium  ciliary membrane  
NDEx NetworkTSPEAR
Atlas of Cancer Signalling NetworkTSPEAR
Wikipedia pathwaysTSPEAR
Orthology - Evolution
OrthoDB54084
GeneTree (enSembl)ENSG00000175894
Phylogenetic Trees/Animal Genes : TreeFamTSPEAR
HOVERGENQ8WU66
HOGENOMQ8WU66
Homologs : HomoloGeneTSPEAR
Homology/Alignments : Family Browser (UCSC)TSPEAR
Gene fusions - Rearrangements
Tumor Fusion PortalTSPEAR
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTSPEAR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TSPEAR
dbVarTSPEAR
ClinVarTSPEAR
1000_GenomesTSPEAR 
Exome Variant ServerTSPEAR
ExAC (Exome Aggregation Consortium)ENSG00000175894
GNOMAD BrowserENSG00000175894
Genetic variants : HAPMAP54084
Genomic Variants (DGV)TSPEAR [DGVbeta]
DECIPHERTSPEAR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTSPEAR 
Mutations
ICGC Data PortalTSPEAR 
TCGA Data PortalTSPEAR 
Broad Tumor PortalTSPEAR
OASIS PortalTSPEAR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTSPEAR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTSPEAR
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 TSPEAR
DgiDB (Drug Gene Interaction Database)TSPEAR
DoCM (Curated mutations)TSPEAR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TSPEAR (select a term)
intoGenTSPEAR
Cancer3DTSPEAR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612920    614861   
Orphanet12047   
DisGeNETTSPEAR
MedgenTSPEAR
Genetic Testing Registry TSPEAR
NextProtQ8WU66 [Medical]
TSGene54084
GENETestsTSPEAR
Target ValidationTSPEAR
Huge Navigator TSPEAR [HugePedia]
snp3D : Map Gene to Disease54084
BioCentury BCIQTSPEAR
ClinGenTSPEAR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54084
Chemical/Pharm GKB GenePA25824
Clinical trialTSPEAR
Miscellaneous
canSAR (ICR)TSPEAR (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTSPEAR
EVEXTSPEAR
GoPubMedTSPEAR
iHOPTSPEAR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:43:20 CET 2017

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