Atlas of Genetics and Cytogenetics in Oncology and Haematology

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COL12A1 (collagen type XII alpha 1 chain)

Identity

Alias_namesCOL12A1L
collagen, type XII, alpha 1-like
collagen, type XII, alpha 1
Other aliasBA209D8.1
BTHLM2
DJ234P15.1
EDSMYP
UCMD2
HGNC (Hugo) COL12A1
LocusID (NCBI) 1303
Atlas_Id 52983
Location 6q13  [Link to chromosome band 6q13]
Location_base_pair Starts at 75084326 and ends at 75205907 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)
CFH (1q31.3) / COL12A1 (6q13)COL12A1 (6q13) / COL12A1 (6q13)COL12A1 (6q13) / COL4A5 (Xq22.3)
COL12A1 (6q13) / GRM1 (6q24.3)COL12A1 (6q13) / TAGLN (11q23.3)COL12A1 (6q13) / TMC5 (16p12.3)
INS-IGF2 (11p15.5) / COL12A1 (6q13)KAZN (1p36.21) / COL12A1 (6q13)MAST4 (5q12.3) / COL12A1 (6q13)
PRDM10 (11q24.3) / COL12A1 (6q13)

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(6;7)(q14;p22) RAC1/COL12A1

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Bone: Subungual exostosis with t(X;6)(q13;q22) COL4A5/COL12A1
inv(6)(q13q24) COL12A1/GRM1

External links

Nomenclature
HGNC (Hugo)COL12A1   2188
Cards
Entrez_Gene (NCBI)COL12A1  1303  collagen type XII alpha 1 chain
AliasesBA209D8.1; BTHLM2; COL12A1L; DJ234P15.1; 
EDSMYP; UCMD2
GeneCards (Weizmann)COL12A1
Ensembl hg19 (Hinxton)ENSG00000111799 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111799 [Gene_View]  ENSG00000111799 [Sequence]  chr6:75084326-75205907 [Contig_View]  COL12A1 [Vega]
ICGC DataPortalENSG00000111799
TCGA cBioPortalCOL12A1
AceView (NCBI)COL12A1
Genatlas (Paris)COL12A1
WikiGenes1303
SOURCE (Princeton)COL12A1
Genetics Home Reference (NIH)COL12A1
Genomic and cartography
GoldenPath hg38 (UCSC)COL12A1  -     chr6:75084326-75205907 -  6q13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL12A1  -     6q13   [Description]    (hg19-Feb_2009)
GoldenPathCOL12A1 - 6q13 [CytoView hg19]  COL12A1 - 6q13 [CytoView hg38]
ImmunoBaseENSG00000111799
Mapping of homologs : NCBICOL12A1 [Mapview hg19]  COL12A1 [Mapview hg38]
OMIM120320   616470   616471   
Gene and transcription
Genbank (Entrez)AI752603 AJ420501 AK057081 AK307558 BC034534
RefSeq transcript (Entrez)NM_004370 NM_080645
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COL12A1
Cluster EST : UnigeneHs.101302 [ NCBI ]
CGAP (NCI)Hs.101302
Alternative Splicing GalleryENSG00000111799
Gene ExpressionCOL12A1 [ NCBI-GEO ]   COL12A1 [ EBI - ARRAY_EXPRESS ]   COL12A1 [ SEEK ]   COL12A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COL12A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1303
GTEX Portal (Tissue expression)COL12A1
Human Protein AtlasENSG00000111799-COL12A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99715   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99715  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99715
Splice isoforms : SwissVarQ99715
PhosPhoSitePlusQ99715
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    VWFA (PS50234)   
Domains : Interpro (EBI)Collagen    ConA-like_dom_sf    FN3_dom    FN3_sf    Ig-like_fold    Laminin_G    VWF_A    vWFA_dom_sf   
Domain families : Pfam (Sanger)Collagen (PF01391)    fn3 (PF00041)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam01391    pfam00041    pfam00092   
Domain families : Smart (EMBL)FN3 (SM00060)  TSPN (SM00210)  VWA (SM00327)  
Conserved Domain (NCBI)COL12A1
DMDM Disease mutations1303
Blocks (Seattle)COL12A1
SuperfamilyQ99715
Human Protein Atlas [tissue]ENSG00000111799-COL12A1 [tissue]
Peptide AtlasQ99715
HPRD00377
IPIIPI00329573   IPI00221384   IPI00302944   IPI00384097   IPI00941565   IPI00827759   IPI00964552   IPI00967725   
Protein Interaction databases
DIP (DOE-UCLA)Q99715
IntAct (EBI)Q99715
FunCoupENSG00000111799
BioGRIDCOL12A1
STRING (EMBL)COL12A1
ZODIACCOL12A1
Ontologies - Pathways
QuickGOQ99715
Ontology : AmiGOgrowth plate cartilage chondrocyte morphogenesis  extracellular region  extracellular region  collagen type XII trimer  extracellular space  extracellular space  endoplasmic reticulum lumen  cell adhesion  extracellular matrix structural constituent conferring tensile strength  extracellular matrix structural constituent conferring tensile strength  collagen fibril organization  extracellular matrix  endodermal cell differentiation  endodermal cell differentiation  collagen-containing extracellular matrix  collagen-containing extracellular matrix  collagen-containing extracellular matrix  extracellular exosome  extracellular vesicle  
Ontology : EGO-EBIgrowth plate cartilage chondrocyte morphogenesis  extracellular region  extracellular region  collagen type XII trimer  extracellular space  extracellular space  endoplasmic reticulum lumen  cell adhesion  extracellular matrix structural constituent conferring tensile strength  extracellular matrix structural constituent conferring tensile strength  collagen fibril organization  extracellular matrix  endodermal cell differentiation  endodermal cell differentiation  collagen-containing extracellular matrix  collagen-containing extracellular matrix  collagen-containing extracellular matrix  extracellular exosome  extracellular vesicle  
Pathways : KEGGProtein digestion and absorption   
NDEx NetworkCOL12A1
Atlas of Cancer Signalling NetworkCOL12A1
Wikipedia pathwaysCOL12A1
Orthology - Evolution
OrthoDB1303
GeneTree (enSembl)ENSG00000111799
Phylogenetic Trees/Animal Genes : TreeFamCOL12A1
HOGENOMQ99715
Homologs : HomoloGeneCOL12A1
Homology/Alignments : Family Browser (UCSC)COL12A1
Gene fusions - Rearrangements
Fusion : MitelmanCOL12A1/GRM1 [6q13/6q24.3]  
Fusion : QuiverCOL12A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL12A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL12A1
dbVarCOL12A1
ClinVarCOL12A1
1000_GenomesCOL12A1 
Exome Variant ServerCOL12A1
ExAC (Exome Aggregation Consortium)ENSG00000111799
GNOMAD BrowserENSG00000111799
Varsome BrowserCOL12A1
Genetic variants : HAPMAP1303
Genomic Variants (DGV)COL12A1 [DGVbeta]
DECIPHERCOL12A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOL12A1 
Mutations
ICGC Data PortalCOL12A1 
TCGA Data PortalCOL12A1 
Broad Tumor PortalCOL12A1
OASIS PortalCOL12A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL12A1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCOL12A1
Mutations and Diseases : HGMDCOL12A1
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 COL12A1
DgiDB (Drug Gene Interaction Database)COL12A1
DoCM (Curated mutations)COL12A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL12A1 (select a term)
intoGenCOL12A1
Cancer3DCOL12A1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120320    616470    616471   
Orphanet367    11094   
DisGeNETCOL12A1
MedgenCOL12A1
Genetic Testing Registry COL12A1
NextProtQ99715 [Medical]
TSGene1303
GENETestsCOL12A1
Target ValidationCOL12A1
Huge Navigator COL12A1 [HugePedia]
snp3D : Map Gene to Disease1303
BioCentury BCIQCOL12A1
ClinGenCOL12A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1303
Chemical/Pharm GKB GenePA26704
Clinical trialCOL12A1
Miscellaneous
canSAR (ICR)COL12A1 (select the gene name)
DataMed IndexCOL12A1
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL12A1
EVEXCOL12A1
GoPubMedCOL12A1
iHOPCOL12A1
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 : Wed Nov 13 17:38:09 CET 2019
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