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COL14A1 (collagen type XIV alpha 1 chain)

Identity

Alias_namesUND
undulin
collagen, type XIV, alpha 1
Other alias
HGNC (Hugo) COL14A1
LocusID (NCBI) 7373
Atlas_Id 40122
Location 8q24.12  [Link to chromosome band 8q24]
Location_base_pair Starts at 120125108 and ends at 120373575 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)
AC010859.1 () / COL14A1 (8q24.12)COL14A1 (8q24.12) / DEPTOR (8q24.12)COL14A1 (8q24.12) / UBXN2B (8q12.1)
CTC1 (17p13.1) / COL14A1 (8q24.12)DNAJA2 (16q11.2) / COL14A1 (8q24.12)FGFR2 (10q26.13) / COL14A1 (8q24.12)
AC010859.1 COL14A1 8q24.12COL14A1 8q24.12 / DEPTOR 8q24.12

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) [ 2 ]
  COL14A1/DEPTOR (8q24)
t(8;16)(q24;q12) DNAJA2/COL14A1

External links

Nomenclature
HGNC (Hugo)COL14A1   2191
Cards
Entrez_Gene (NCBI)COL14A1  7373  collagen type XIV alpha 1 chain
AliasesUND
GeneCards (Weizmann)COL14A1
Ensembl hg19 (Hinxton)ENSG00000187955 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187955 [Gene_View]  ENSG00000187955 [Sequence]  chr8:120125108-120373575 [Contig_View]  COL14A1 [Vega]
ICGC DataPortalENSG00000187955
TCGA cBioPortalCOL14A1
AceView (NCBI)COL14A1
Genatlas (Paris)COL14A1
WikiGenes7373
SOURCE (Princeton)COL14A1
Genetics Home Reference (NIH)COL14A1
Genomic and cartography
GoldenPath hg38 (UCSC)COL14A1  -     chr8:120125108-120373575 +  8q24.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL14A1  -     8q24.12   [Description]    (hg19-Feb_2009)
GoldenPathCOL14A1 - 8q24.12 [CytoView hg19]  COL14A1 - 8q24.12 [CytoView hg38]
ImmunoBaseENSG00000187955
Mapping of homologs : NCBICOL14A1 [Mapview hg19]  COL14A1 [Mapview hg38]
OMIM120324   
Gene and transcription
Genbank (Entrez)AK021997 AK293080 AK307716 AK311498 BC014640
RefSeq transcript (Entrez)NM_021110
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COL14A1
Cluster EST : UnigeneHs.657621 [ NCBI ]
CGAP (NCI)Hs.657621
Alternative Splicing GalleryENSG00000187955
Gene ExpressionCOL14A1 [ NCBI-GEO ]   COL14A1 [ EBI - ARRAY_EXPRESS ]   COL14A1 [ SEEK ]   COL14A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COL14A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7373
GTEX Portal (Tissue expression)COL14A1
Human Protein AtlasENSG00000187955-COL14A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ05707   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ05707  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ05707
Splice isoforms : SwissVarQ05707
PhosPhoSitePlusQ05707
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)COL14A1
DMDM Disease mutations7373
Blocks (Seattle)COL14A1
SuperfamilyQ05707
Human Protein Atlas [tissue]ENSG00000187955-COL14A1 [tissue]
Peptide AtlasQ05707
HPRD00379
IPIIPI00176193   IPI00550918   IPI00402215   IPI00853156   IPI01014678   IPI00977170   
Protein Interaction databases
DIP (DOE-UCLA)Q05707
IntAct (EBI)Q05707
FunCoupENSG00000187955
BioGRIDCOL14A1
STRING (EMBL)COL14A1
ZODIACCOL14A1
Ontologies - Pathways
QuickGOQ05707
Ontology : AmiGOgrowth plate cartilage chondrocyte morphogenesis  RNA binding  extracellular matrix structural constituent  collagen binding  extracellular region  extracellular region  collagen trimer  collagen type XIV trimer  extracellular space  extracellular space  endoplasmic reticulum lumen  extracellular matrix structural constituent conferring tensile strength  extracellular matrix structural constituent conferring tensile strength  extracellular matrix organization  collagen fibril organization  protein binding, bridging  extracellular matrix  extracellular matrix  collagen-containing extracellular matrix  collagen-containing extracellular matrix  collagen-containing extracellular matrix  collagen-containing extracellular matrix  cell-cell adhesion  
Ontology : EGO-EBIgrowth plate cartilage chondrocyte morphogenesis  RNA binding  extracellular matrix structural constituent  collagen binding  extracellular region  extracellular region  collagen trimer  collagen type XIV trimer  extracellular space  extracellular space  endoplasmic reticulum lumen  extracellular matrix structural constituent conferring tensile strength  extracellular matrix structural constituent conferring tensile strength  extracellular matrix organization  collagen fibril organization  protein binding, bridging  extracellular matrix  extracellular matrix  collagen-containing extracellular matrix  collagen-containing extracellular matrix  collagen-containing extracellular matrix  collagen-containing extracellular matrix  cell-cell adhesion  
Pathways : KEGGProtein digestion and absorption   
NDEx NetworkCOL14A1
Atlas of Cancer Signalling NetworkCOL14A1
Wikipedia pathwaysCOL14A1
Orthology - Evolution
OrthoDB7373
GeneTree (enSembl)ENSG00000187955
Phylogenetic Trees/Animal Genes : TreeFamCOL14A1
HOGENOMQ05707
Homologs : HomoloGeneCOL14A1
Homology/Alignments : Family Browser (UCSC)COL14A1
Gene fusions - Rearrangements
Fusion : MitelmanCOL14A1/DEPTOR [8q24.12/8q24.12]  
Fusion : MitelmanDNAJA2/COL14A1 [16q11.2/8q24.12]  [t(8;16)(q24;q12)]  
Fusion PortalAC010859.1 COL14A1 8q24.12 LUSC
Fusion PortalCOL14A1 8q24.12 DEPTOR 8q24.12 LUAD OV
Fusion : QuiverCOL14A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL14A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL14A1
dbVarCOL14A1
ClinVarCOL14A1
1000_GenomesCOL14A1 
Exome Variant ServerCOL14A1
ExAC (Exome Aggregation Consortium)ENSG00000187955
GNOMAD BrowserENSG00000187955
Varsome BrowserCOL14A1
Genetic variants : HAPMAP7373
Genomic Variants (DGV)COL14A1 [DGVbeta]
DECIPHERCOL14A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOL14A1 
Mutations
ICGC Data PortalCOL14A1 
TCGA Data PortalCOL14A1 
Broad Tumor PortalCOL14A1
OASIS PortalCOL14A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL14A1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCOL14A1
Mutations and Diseases : HGMDCOL14A1
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 COL14A1
DgiDB (Drug Gene Interaction Database)COL14A1
DoCM (Curated mutations)COL14A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL14A1 (select a term)
intoGenCOL14A1
Cancer3DCOL14A1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120324   
Orphanet11527   
DisGeNETCOL14A1
MedgenCOL14A1
Genetic Testing Registry COL14A1
NextProtQ05707 [Medical]
TSGene7373
GENETestsCOL14A1
Target ValidationCOL14A1
Huge Navigator COL14A1 [HugePedia]
snp3D : Map Gene to Disease7373
BioCentury BCIQCOL14A1
ClinGenCOL14A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7373
Chemical/Pharm GKB GenePA26707
Clinical trialCOL14A1
Miscellaneous
canSAR (ICR)COL14A1 (select the gene name)
DataMed IndexCOL14A1
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL14A1
EVEXCOL14A1
GoPubMedCOL14A1
iHOPCOL14A1
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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