Atlas of Genetics and Cytogenetics in Oncology and Haematology

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COMP (cartilage oligomeric matrix protein)

Identity

Alias_namesPSACH
EDM1
EPD1
cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)
Alias_symbol (synonym)MED
THBS5
Other aliasTSP5
HGNC (Hugo) COMP
LocusID (NCBI) 1311
Atlas_Id 46113
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 18782773 and ends at 18791305 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)
COMP (19p13.11) / SERPINA3 (14q32.13)

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)COMP   2227
Cards
Entrez_Gene (NCBI)COMP  1311  cartilage oligomeric matrix protein
AliasesEDM1; EPD1; MED; PSACH; 
THBS5; TSP5
GeneCards (Weizmann)COMP
Ensembl hg19 (Hinxton)ENSG00000105664 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105664 [Gene_View]  ENSG00000105664 [Sequence]  chr19:18782773-18791305 [Contig_View]  COMP [Vega]
ICGC DataPortalENSG00000105664
TCGA cBioPortalCOMP
AceView (NCBI)COMP
Genatlas (Paris)COMP
WikiGenes1311
SOURCE (Princeton)COMP
Genetics Home Reference (NIH)COMP
Genomic and cartography
GoldenPath hg38 (UCSC)COMP  -     chr19:18782773-18791305 -  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COMP  -     19p13.11   [Description]    (hg19-Feb_2009)
GoldenPathCOMP - 19p13.11 [CytoView hg19]  COMP - 19p13.11 [CytoView hg38]
ImmunoBaseENSG00000105664
Mapping of homologs : NCBICOMP [Mapview hg19]  COMP [Mapview hg38]
OMIM132400   177170   600310   
Gene and transcription
Genbank (Entrez)AB086984 AK074508 AK223216 AK290595 AK296586
RefSeq transcript (Entrez)NM_000095
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COMP
Alternative Splicing GalleryENSG00000105664
Gene ExpressionCOMP [ NCBI-GEO ]   COMP [ EBI - ARRAY_EXPRESS ]   COMP [ SEEK ]   COMP [ MEM ]
Gene Expression Viewer (FireBrowse)COMP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1311
GTEX Portal (Tissue expression)COMP
Human Protein AtlasENSG00000105664-COMP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49747   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP49747  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP49747
Splice isoforms : SwissVarP49747
PhosPhoSitePlusP49747
Domaine pattern : Prosite (Expaxy)EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    TSP3 (PS51234)    TSP_CTER (PS51236)   
Domains : Interpro (EBI)ConA-like_dom_sf    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF_Ca-bd_CS    Growth_fac_rcpt_cys_sf    Thbs/COMP_coiled-coil    Thrombospondin_3-like_rpt    Thrombospondin_3_rpt    Thrombospondin_C    TSP-5    TSP-5_cc    TSP_type-3_rpt   
Domain families : Pfam (Sanger)COMP (PF11598)    EGF_CA (PF07645)    TSP_3 (PF02412)    TSP_C (PF05735)   
Domain families : Pfam (NCBI)pfam11598    pfam07645    pfam02412    pfam05735   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  
Conserved Domain (NCBI)COMP
DMDM Disease mutations1311
Blocks (Seattle)COMP
PDB (RSDB)3FBY   
PDB Europe3FBY   
PDB (PDBSum)3FBY   
PDB (IMB)3FBY   
Structural Biology KnowledgeBase3FBY   
SCOP (Structural Classification of Proteins)3FBY   
CATH (Classification of proteins structures)3FBY   
SuperfamilyP49747
Human Protein Atlas [tissue]ENSG00000105664-COMP [tissue]
Peptide AtlasP49747
HPRD02632
IPIIPI00028030   IPI00910249   IPI01010231   IPI00384067   IPI00643348   IPI01022017   
Protein Interaction databases
DIP (DOE-UCLA)P49747
IntAct (EBI)P49747
FunCoupENSG00000105664
BioGRIDCOMP
STRING (EMBL)COMP
ZODIACCOMP
Ontologies - Pathways
QuickGOP49747
Ontology : AmiGOskeletal system development  protease binding  chondrocyte development  growth plate cartilage development  integrin binding  extracellular matrix structural constituent  calcium ion binding  protein binding  collagen binding  extracellular region  extracellular region  extracellular space  apoptotic process  response to unfolded protein  heparin binding  protein secretion  animal organ morphogenesis  multicellular organism aging  animal organ senescence  vascular smooth muscle contraction  protein processing  extracellular matrix organization  collagen fibril organization  bone mineralization  regulation of bone mineralization  BMP signaling pathway  extracellular matrix  protein-containing complex  multicellular organism growth  chondrocyte proliferation  tendon development  BMP binding  negative regulation of apoptotic process  proteoglycan binding  heparan sulfate proteoglycan binding  skin development  muscle fiber development  artery morphogenesis  musculoskeletal movement  neuromuscular process  limb development  collagen-containing extracellular matrix  collagen-containing extracellular matrix  extracellular exosome  platelet aggregation  vascular smooth muscle cell development  negative regulation of hemostasis  positive regulation of chondrocyte proliferation  
Ontology : EGO-EBIskeletal system development  protease binding  chondrocyte development  growth plate cartilage development  integrin binding  extracellular matrix structural constituent  calcium ion binding  protein binding  collagen binding  extracellular region  extracellular region  extracellular space  apoptotic process  response to unfolded protein  heparin binding  protein secretion  animal organ morphogenesis  multicellular organism aging  animal organ senescence  vascular smooth muscle contraction  protein processing  extracellular matrix organization  collagen fibril organization  bone mineralization  regulation of bone mineralization  BMP signaling pathway  extracellular matrix  protein-containing complex  multicellular organism growth  chondrocyte proliferation  tendon development  BMP binding  negative regulation of apoptotic process  proteoglycan binding  heparan sulfate proteoglycan binding  skin development  muscle fiber development  artery morphogenesis  musculoskeletal movement  neuromuscular process  limb development  collagen-containing extracellular matrix  collagen-containing extracellular matrix  extracellular exosome  platelet aggregation  vascular smooth muscle cell development  negative regulation of hemostasis  positive regulation of chondrocyte proliferation  
Pathways : KEGGPhagosome    PI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Malaria   
NDEx NetworkCOMP
Atlas of Cancer Signalling NetworkCOMP
Wikipedia pathwaysCOMP
Orthology - Evolution
OrthoDB1311
GeneTree (enSembl)ENSG00000105664
Phylogenetic Trees/Animal Genes : TreeFamCOMP
HOGENOMP49747
Homologs : HomoloGeneCOMP
Homology/Alignments : Family Browser (UCSC)COMP
Gene fusions - Rearrangements
Fusion : QuiverCOMP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOMP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COMP
dbVarCOMP
ClinVarCOMP
1000_GenomesCOMP 
Exome Variant ServerCOMP
ExAC (Exome Aggregation Consortium)ENSG00000105664
GNOMAD BrowserENSG00000105664
Varsome BrowserCOMP
Genetic variants : HAPMAP1311
Genomic Variants (DGV)COMP [DGVbeta]
DECIPHERCOMP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOMP 
Mutations
ICGC Data PortalCOMP 
TCGA Data PortalCOMP 
Broad Tumor PortalCOMP
OASIS PortalCOMP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOMP  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCOMP
Mutations and Diseases : HGMDCOMP
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch COMP
DgiDB (Drug Gene Interaction Database)COMP
DoCM (Curated mutations)COMP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COMP (select a term)
intoGenCOMP
Cancer3DCOMP(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM132400    177170    600310   
Orphanet2676    12245   
DisGeNETCOMP
MedgenCOMP
Genetic Testing Registry COMP
NextProtP49747 [Medical]
TSGene1311
GENETestsCOMP
Target ValidationCOMP
Huge Navigator COMP [HugePedia]
snp3D : Map Gene to Disease1311
BioCentury BCIQCOMP
ClinGenCOMP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1311
Chemical/Pharm GKB GenePA26744
Clinical trialCOMP
Miscellaneous
canSAR (ICR)COMP (select the gene name)
HarmonizomeCOMP
DataMed IndexCOMP
Probes
Litterature
PubMed149 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOMP
EVEXCOMP
GoPubMedCOMP
iHOPCOMP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun May 10 12:11:11 CEST 2020
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