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COL10A1 (collagen type X alpha 1 chain)

Identity

Alias_namescollagen
Other alias-
HGNC (Hugo) COL10A1
LocusID (NCBI) 1300
Atlas_Id 53127
Location 6q22.1  [Link to chromosome band 6q22]
Location_base_pair Starts at 116118922 and ends at 116126133 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)
RARA (17q21.2) / COL10A1 (6q22.1)RARA 17q21.2 / COL10A1 6q22.1

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(6;17)(q22;q21) RARA/COL10A1


External links

Nomenclature
HGNC (Hugo)COL10A1   2185
Cards
Entrez_Gene (NCBI)COL10A1  1300  collagen type X alpha 1 chain
Aliases
GeneCards (Weizmann)COL10A1
Ensembl hg19 (Hinxton)ENSG00000123500 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123500 [Gene_View]  ENSG00000123500 [Sequence]  chr6:116118922-116126133 [Contig_View]  COL10A1 [Vega]
ICGC DataPortalENSG00000123500
TCGA cBioPortalCOL10A1
AceView (NCBI)COL10A1
Genatlas (Paris)COL10A1
WikiGenes1300
SOURCE (Princeton)COL10A1
Genetics Home Reference (NIH)COL10A1
Genomic and cartography
GoldenPath hg38 (UCSC)COL10A1  -     chr6:116118922-116126133 -  6q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL10A1  -     6q22.1   [Description]    (hg19-Feb_2009)
EnsemblCOL10A1 - 6q22.1 [CytoView hg19]  COL10A1 - 6q22.1 [CytoView hg38]
Mapping of homologs : NCBICOL10A1 [Mapview hg19]  COL10A1 [Mapview hg38]
OMIM120110   156500   
Gene and transcription
Genbank (Entrez)BC130621 BC130623 BI521533 CA447328 S68531
RefSeq transcript (Entrez)NM_000493
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COL10A1
Cluster EST : UnigeneHs.520339 [ NCBI ]
CGAP (NCI)Hs.520339
Alternative Splicing GalleryENSG00000123500
Gene ExpressionCOL10A1 [ NCBI-GEO ]   COL10A1 [ EBI - ARRAY_EXPRESS ]   COL10A1 [ SEEK ]   COL10A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COL10A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1300
GTEX Portal (Tissue expression)COL10A1
Human Protein AtlasENSG00000123500-COL10A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ03692   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ03692  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ03692
Splice isoforms : SwissVarQ03692
PhosPhoSitePlusQ03692
Domaine pattern : Prosite (Expaxy)C1Q (PS50871)   
Domains : Interpro (EBI)C1q_dom    Collagen    Tumour_necrosis_fac-like_dom   
Domain families : Pfam (Sanger)C1q (PF00386)    Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam00386    pfam01391   
Domain families : Smart (EMBL)C1Q (SM00110)  
Conserved Domain (NCBI)COL10A1
DMDM Disease mutations1300
Blocks (Seattle)COL10A1
PDB (SRS)1GR3   
PDB (PDBSum)1GR3   
PDB (IMB)1GR3   
PDB (RSDB)1GR3   
Structural Biology KnowledgeBase1GR3   
SCOP (Structural Classification of Proteins)1GR3   
CATH (Classification of proteins structures)1GR3   
SuperfamilyQ03692
Human Protein Atlas [tissue]ENSG00000123500-COL10A1 [tissue]
Peptide AtlasQ03692
HPRD00357
IPIIPI00011685   IPI00642883   IPI00642578   
Protein Interaction databases
DIP (DOE-UCLA)Q03692
IntAct (EBI)Q03692
FunCoupENSG00000123500
BioGRIDCOL10A1
STRING (EMBL)COL10A1
ZODIACCOL10A1
Ontologies - Pathways
QuickGOQ03692
Ontology : AmiGOskeletal system development  extracellular matrix structural constituent  protein binding  extracellular region  collagen trimer  extracellular space  endoplasmic reticulum lumen  extracellular matrix structural constituent conferring tensile strength  extracellular matrix organization  extracellular matrix organization  extracellular matrix  metal ion binding  collagen-containing extracellular matrix  
Ontology : EGO-EBIskeletal system development  extracellular matrix structural constituent  protein binding  extracellular region  collagen trimer  extracellular space  endoplasmic reticulum lumen  extracellular matrix structural constituent conferring tensile strength  extracellular matrix organization  extracellular matrix organization  extracellular matrix  metal ion binding  collagen-containing extracellular matrix  
NDEx NetworkCOL10A1
Atlas of Cancer Signalling NetworkCOL10A1
Wikipedia pathwaysCOL10A1
Orthology - Evolution
OrthoDB1300
GeneTree (enSembl)ENSG00000123500
Phylogenetic Trees/Animal Genes : TreeFamCOL10A1
HOVERGENQ03692
HOGENOMQ03692
Homologs : HomoloGeneCOL10A1
Homology/Alignments : Family Browser (UCSC)COL10A1
Gene fusions - Rearrangements
Fusion : MitelmanRARA/COL10A1 [17q21.2/6q22.1]  [t(6;17)(q22;q21)]  
Fusion PortalRARA 17q21.2 COL10A1 6q22.1 BRCA
Fusion : QuiverCOL10A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL10A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL10A1
dbVarCOL10A1
ClinVarCOL10A1
1000_GenomesCOL10A1 
Exome Variant ServerCOL10A1
ExAC (Exome Aggregation Consortium)ENSG00000123500
GNOMAD BrowserENSG00000123500
Varsome BrowserCOL10A1
Genetic variants : HAPMAP1300
Genomic Variants (DGV)COL10A1 [DGVbeta]
DECIPHERCOL10A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOL10A1 
Mutations
ICGC Data PortalCOL10A1 
TCGA Data PortalCOL10A1 
Broad Tumor PortalCOL10A1
OASIS PortalCOL10A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL10A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOL10A1
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)Connective tissue disorders (VUMC Amsterdam)
BioMutasearch COL10A1
DgiDB (Drug Gene Interaction Database)COL10A1
DoCM (Curated mutations)COL10A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL10A1 (select a term)
intoGenCOL10A1
Cancer3DCOL10A1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120110    156500   
Orphanet1624   
DisGeNETCOL10A1
MedgenCOL10A1
Genetic Testing Registry COL10A1
NextProtQ03692 [Medical]
TSGene1300
GENETestsCOL10A1
Target ValidationCOL10A1
Huge Navigator COL10A1 [HugePedia]
snp3D : Map Gene to Disease1300
BioCentury BCIQCOL10A1
ClinGenCOL10A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1300
Chemical/Pharm GKB GenePA26701
Clinical trialCOL10A1
Miscellaneous
canSAR (ICR)COL10A1 (select the gene name)
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL10A1
EVEXCOL10A1
GoPubMedCOL10A1
iHOPCOL10A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 10:59:22 CET 2018

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