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COL13A1 (collagen type XIII alpha 1 chain)

Identity

Alias_namescollagen, type XIII, alpha 1
Other aliasCMS19
COLXIIIA1
HGNC (Hugo) COL13A1
LocusID (NCBI) 1305
Atlas_Id 61981
Location 10q22.1  [Link to chromosome band 10q22]
Location_base_pair Starts at 69801888 and ends at 69959148 bp from pter ( according to hg38-Dec_2013)

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)COL13A1   2190
Cards
Entrez_Gene (NCBI)COL13A1  1305  collagen type XIII alpha 1 chain
AliasesCMS19; COLXIIIA1
GeneCards (Weizmann)COL13A1
Ensembl hg19 (Hinxton)ENSG00000197467 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197467 [Gene_View]  chr10:69801888-69959148 [Contig_View]  COL13A1 [Vega]
ICGC DataPortalENSG00000197467
TCGA cBioPortalCOL13A1
AceView (NCBI)COL13A1
Genatlas (Paris)COL13A1
WikiGenes1305
SOURCE (Princeton)COL13A1
Genetics Home Reference (NIH)COL13A1
Genomic and cartography
GoldenPath hg38 (UCSC)COL13A1  -     chr10:69801888-69959148 +  10q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL13A1  -     10q22.1   [Description]    (hg19-Feb_2009)
EnsemblCOL13A1 - 10q22.1 [CytoView hg19]  COL13A1 - 10q22.1 [CytoView hg38]
Mapping of homologs : NCBICOL13A1 [Mapview hg19]  COL13A1 [Mapview hg38]
OMIM120350   616720   
Gene and transcription
Genbank (Entrez)AI741175 AJ293624 AK124476 BC136385 BC139913
RefSeq transcript (Entrez)NM_001130103 NM_001320951 NM_005203 NM_080798 NM_080799 NM_080800 NM_080801 NM_080802 NM_080803 NM_080804 NM_080805 NM_080806 NM_080807 NM_080808 NM_080809 NM_080810 NM_080811 NM_080812 NM_080813 NM_080814 NM_080815
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COL13A1
Cluster EST : UnigeneHs.695934 [ NCBI ]
CGAP (NCI)Hs.695934
Alternative Splicing GalleryENSG00000197467
Gene ExpressionCOL13A1 [ NCBI-GEO ]   COL13A1 [ EBI - ARRAY_EXPRESS ]   COL13A1 [ SEEK ]   COL13A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COL13A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1305
GTEX Portal (Tissue expression)COL13A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5TAT6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5TAT6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5TAT6
Splice isoforms : SwissVarQ5TAT6
PhosPhoSitePlusQ5TAT6
Domains : Interpro (EBI)Collagen   
Domain families : Pfam (Sanger)Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam01391   
Conserved Domain (NCBI)COL13A1
DMDM Disease mutations1305
Blocks (Seattle)COL13A1
SuperfamilyQ5TAT6
Human Protein AtlasENSG00000197467
Peptide AtlasQ5TAT6
HPRD00383
IPIIPI00299472   IPI00383356   IPI01008962   IPI00377036   IPI00375412   IPI00375413   IPI00375414   IPI00844070   IPI00955889   IPI00909696   IPI00977145   IPI00375410   IPI00910347   IPI00979934   IPI00375417   IPI00872337   IPI01012453   IPI00093977   IPI00375408   IPI00979146   IPI00981866   
Protein Interaction databases
DIP (DOE-UCLA)Q5TAT6
IntAct (EBI)Q5TAT6
FunCoupENSG00000197467
BioGRIDCOL13A1
STRING (EMBL)COL13A1
ZODIACCOL13A1
Ontologies - Pathways
QuickGOQ5TAT6
Ontology : AmiGOmorphogenesis of a branching structure  endochondral ossification  protein binding  extracellular region  collagen type XIII trimer  endoplasmic reticulum lumen  plasma membrane  cell-cell junction  cell-matrix adhesion  heparin binding  single organismal cell-cell adhesion  cell differentiation  extracellular matrix organization  collagen catabolic process  postsynaptic membrane  
Ontology : EGO-EBImorphogenesis of a branching structure  endochondral ossification  protein binding  extracellular region  collagen type XIII trimer  endoplasmic reticulum lumen  plasma membrane  cell-cell junction  cell-matrix adhesion  heparin binding  single organismal cell-cell adhesion  cell differentiation  extracellular matrix organization  collagen catabolic process  postsynaptic membrane  
Pathways : KEGGProtein digestion and absorption   
NDEx NetworkCOL13A1
Atlas of Cancer Signalling NetworkCOL13A1
Wikipedia pathwaysCOL13A1
Orthology - Evolution
OrthoDB1305
GeneTree (enSembl)ENSG00000197467
Phylogenetic Trees/Animal Genes : TreeFamCOL13A1
HOVERGENQ5TAT6
HOGENOMQ5TAT6
Homologs : HomoloGeneCOL13A1
Homology/Alignments : Family Browser (UCSC)COL13A1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL13A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL13A1
dbVarCOL13A1
ClinVarCOL13A1
1000_GenomesCOL13A1 
Exome Variant ServerCOL13A1
ExAC (Exome Aggregation Consortium)COL13A1 (select the gene name)
Genetic variants : HAPMAP1305
Genomic Variants (DGV)COL13A1 [DGVbeta]
DECIPHERCOL13A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOL13A1 
Mutations
ICGC Data PortalCOL13A1 
TCGA Data PortalCOL13A1 
Broad Tumor PortalCOL13A1
OASIS PortalCOL13A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL13A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOL13A1
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 COL13A1
DgiDB (Drug Gene Interaction Database)COL13A1
DoCM (Curated mutations)COL13A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL13A1 (select a term)
intoGenCOL13A1
Cancer3DCOL13A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120350    616720   
Orphanet13931    13930   
MedgenCOL13A1
Genetic Testing Registry COL13A1
NextProtQ5TAT6 [Medical]
TSGene1305
GENETestsCOL13A1
Target ValidationCOL13A1
Huge Navigator COL13A1 [HugePedia]
snp3D : Map Gene to Disease1305
BioCentury BCIQCOL13A1
ClinGenCOL13A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1305
Chemical/Pharm GKB GenePA26706
Clinical trialCOL13A1
Miscellaneous
canSAR (ICR)COL13A1 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL13A1
EVEXCOL13A1
GoPubMedCOL13A1
iHOPCOL13A1
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 18 13:05:08 CEST 2017

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