Atlas of Genetics and Cytogenetics in Oncology and Haematology

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COL11A1 (collagen type XI alpha 1 chain)

Identity

Alias (NCBI)CO11A1
COLL6
DFNA37
STL2
HGNC (Hugo) COL11A1
HGNC Alias symbSTL2
CO11A1
HGNC Alias namecollagen XI, alpha-1 polypeptide
HGNC Previous nameCOLL6
 DFNA37
HGNC Previous namecollagen, type XI, alpha 1
 deafness, autosomal dominant 37
LocusID (NCBI) 1301
Atlas_Id 51004
Location 1p21.1  [Link to chromosome band 1p21]
Location_base_pair Starts at 102876473 and ends at 103108522 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)
CBR4 (4q32.3) / COL11A1 (1p21.1)COL11A1 (1p21.1) / ARL5C (17q12)COL11A1 (1p21.1) / IVNS1ABP (1q25.3)
COL11A1 (1p21.1) / PANK2 (20p13)COL11A1 1p21.1 / ARL5C 17q12

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(1;17)(p21;q12) COL11A1/ARL5C

External links

Nomenclature
HGNC (Hugo)COL11A1   2186
Cards
Entrez_Gene (NCBI)COL11A1  1301  collagen type XI alpha 1 chain
AliasesCO11A1; COLL6; DFNA37; STL2
GeneCards (Weizmann)COL11A1
Ensembl hg19 (Hinxton)ENSG00000060718 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000060718 [Gene_View]  ENSG00000060718 [Sequence]  chr1:102876473-103108522 [Contig_View]  COL11A1 [Vega]
ICGC DataPortalENSG00000060718
TCGA cBioPortalCOL11A1
AceView (NCBI)COL11A1
Genatlas (Paris)COL11A1
WikiGenes1301
SOURCE (Princeton)COL11A1
Genetics Home Reference (NIH)COL11A1
Genomic and cartography
GoldenPath hg38 (UCSC)COL11A1  -     chr1:102876473-103108522 -  1p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL11A1  -     1p21.1   [Description]    (hg19-Feb_2009)
GoldenPathCOL11A1 - 1p21.1 [CytoView hg19]  COL11A1 - 1p21.1 [CytoView hg38]
ImmunoBaseENSG00000060718
genome Data Viewer NCBICOL11A1 [Mapview hg19]  
OMIM120280   154780   228520   603932   604841   618533   
Gene and transcription
Genbank (Entrez)AB208844 AK299025 AU118365 BC117697 BU159588
RefSeq transcript (Entrez)NM_001190709 NM_001854 NM_080629 NM_080630
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COL11A1
Alternative Splicing GalleryENSG00000060718
Gene ExpressionCOL11A1 [ NCBI-GEO ]   COL11A1 [ EBI - ARRAY_EXPRESS ]   COL11A1 [ SEEK ]   COL11A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COL11A1 [ Firebrowse - Broad ]
GenevisibleExpression of COL11A1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1301
GTEX Portal (Tissue expression)COL11A1
Human Protein AtlasENSG00000060718-COL11A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12107   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP12107  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12107
Splice isoforms : SwissVarP12107
PhosPhoSitePlusP12107
Domaine pattern : Prosite (Expaxy)NC1_FIB (PS51461)   
Domains : Interpro (EBI)Collagen    ConA-like_dom_sf    Fib_collagen_C    Laminin_G   
Domain families : Pfam (Sanger)COLFI (PF01410)    Collagen (PF01391)    Laminin_G_2 (PF02210)   
Domain families : Pfam (NCBI)pfam01410    pfam01391    pfam02210   
Domain families : Smart (EMBL)COLFI (SM00038)  LamG (SM00282)  TSPN (SM00210)  
Conserved Domain (NCBI)COL11A1
DMDM Disease mutations1301
Blocks (Seattle)COL11A1
SuperfamilyP12107
Human Protein Atlas [tissue]ENSG00000060718-COL11A1 [tissue]
Peptide AtlasP12107
HPRD00375
IPIIPI00295575   IPI00218539   IPI00218540   IPI00844199   IPI00954478   IPI00930415   IPI00853281   IPI00965543   
Protein Interaction databases
DIP (DOE-UCLA)P12107
IntAct (EBI)P12107
FunCoupENSG00000060718
BioGRIDCOL11A1
STRING (EMBL)COL11A1
ZODIACCOL11A1
Ontologies - Pathways
QuickGOP12107
Ontology : AmiGOcartilage condensation  ossification  chondrocyte development  extracellular matrix structural constituent  extracellular matrix structural constituent  extracellular region  collagen type XI trimer  collagen type XI trimer  collagen type XI trimer  extracellular space  endoplasmic reticulum lumen  proteoglycan metabolic process  visual perception  sensory perception of sound  heparin binding  extracellular matrix structural constituent conferring tensile strength  extracellular matrix organization  extracellular matrix organization  collagen fibril organization  protein binding, bridging  extracellular matrix  endodermal cell differentiation  tendon development  inner ear morphogenesis  metal ion binding  embryonic skeletal system morphogenesis  extracellular matrix binding  detection of mechanical stimulus involved in sensory perception of sound  ventricular cardiac muscle tissue morphogenesis  collagen-containing extracellular matrix  heparan sulfate binding  
Ontology : EGO-EBIcartilage condensation  ossification  chondrocyte development  extracellular matrix structural constituent  extracellular matrix structural constituent  extracellular region  collagen type XI trimer  collagen type XI trimer  collagen type XI trimer  extracellular space  endoplasmic reticulum lumen  proteoglycan metabolic process  visual perception  sensory perception of sound  heparin binding  extracellular matrix structural constituent conferring tensile strength  extracellular matrix organization  extracellular matrix organization  collagen fibril organization  protein binding, bridging  extracellular matrix  endodermal cell differentiation  tendon development  inner ear morphogenesis  metal ion binding  embryonic skeletal system morphogenesis  extracellular matrix binding  detection of mechanical stimulus involved in sensory perception of sound  ventricular cardiac muscle tissue morphogenesis  collagen-containing extracellular matrix  heparan sulfate binding  
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Protein digestion and absorption    Amoebiasis   
NDEx NetworkCOL11A1
Atlas of Cancer Signalling NetworkCOL11A1
Wikipedia pathwaysCOL11A1
Orthology - Evolution
OrthoDB1301
GeneTree (enSembl)ENSG00000060718
Phylogenetic Trees/Animal Genes : TreeFamCOL11A1
HOGENOMP12107
Homologs : HomoloGeneCOL11A1
Homology/Alignments : Family Browser (UCSC)COL11A1
Gene fusions - Rearrangements
Fusion : MitelmanCOL11A1/ARL5C [1p21.1/17q12]  
Fusion PortalCOL11A1 1p21.1 ARL5C 17q12 BRCA
Fusion : QuiverCOL11A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL11A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL11A1
dbVarCOL11A1
ClinVarCOL11A1
MonarchCOL11A1
1000_GenomesCOL11A1 
Exome Variant ServerCOL11A1
GNOMAD BrowserENSG00000060718
Varsome BrowserCOL11A1
Genetic variants : HAPMAP1301
Genomic Variants (DGV)COL11A1 [DGVbeta]
DECIPHERCOL11A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOL11A1 
Mutations
ICGC Data PortalCOL11A1 
TCGA Data PortalCOL11A1 
Broad Tumor PortalCOL11A1
OASIS PortalCOL11A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL11A1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCOL11A1
Mutations and Diseases : HGMDCOL11A1
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch COL11A1
DgiDB (Drug Gene Interaction Database)COL11A1
DoCM (Curated mutations)COL11A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL11A1 (select a term)
intoGenCOL11A1
Cancer3DCOL11A1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120280    154780    228520    603932    604841    618533   
Orphanet540    1953    19597    23401    12062   
DisGeNETCOL11A1
MedgenCOL11A1
Genetic Testing Registry COL11A1
NextProtP12107 [Medical]
TSGene1301
GENETestsCOL11A1
Target ValidationCOL11A1
Huge Navigator COL11A1 [HugePedia]
snp3D : Map Gene to Disease1301
BioCentury BCIQCOL11A1
ClinGenCOL11A1 (curated)
Clinical trials, drugs, therapy
Protein Interactions : CTD1301
Pharm GKB GenePA26702
Clinical trialCOL11A1
Miscellaneous
canSAR (ICR)COL11A1 (select the gene name)
HarmonizomeCOL11A1
DataMed IndexCOL11A1
Probes
Litterature
PubMed106 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL11A1
EVEXCOL11A1
GoPubMedCOL11A1
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 : Mon Sep 14 14:06:47 CEST 2020
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