Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

COL19A1 (collagen type XIX alpha 1 chain)

Identity

Alias (NCBI)COL9A1L
D6S228E
HGNC (Hugo) COL19A1
HGNC Previous namecollagen, type XIX, alpha 1
LocusID (NCBI) 1310
Atlas_Id 57362
Location 6q13  [Link to chromosome band 6q13]
Location_base_pair Starts at 69866556 and ends at 70212467 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)
AP3D1 (19p13.3) / COL19A1 (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

 



External links

Nomenclature
HGNC (Hugo)COL19A1   2196
Cards
Entrez_Gene (NCBI)COL19A1    collagen type XIX alpha 1 chain
AliasesCOL9A1L; D6S228E
GeneCards (Weizmann)COL19A1
Ensembl hg19 (Hinxton)ENSG00000082293 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000082293 [Gene_View]  ENSG00000082293 [Sequence]  chr6:69866556-70212467 [Contig_View]  COL19A1 [Vega]
ICGC DataPortalENSG00000082293
TCGA cBioPortalCOL19A1
AceView (NCBI)COL19A1
Genatlas (Paris)COL19A1
SOURCE (Princeton)COL19A1
Genetics Home Reference (NIH)COL19A1
Genomic and cartography
GoldenPath hg38 (UCSC)COL19A1  -     chr6:69866556-70212467 +  6q13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL19A1  -     6q13   [Description]    (hg19-Feb_2009)
GoldenPathCOL19A1 - 6q13 [CytoView hg19]  COL19A1 - 6q13 [CytoView hg38]
ImmunoBaseENSG00000082293
genome Data Viewer NCBICOL19A1 [Mapview hg19]  
OMIM120165   
Gene and transcription
Genbank (Entrez)AK309023 AK310621 BC070177 BC113362 BC113364
RefSeq transcript (Entrez)NM_001858
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COL19A1
Alternative Splicing GalleryENSG00000082293
Gene ExpressionCOL19A1 [ NCBI-GEO ]   COL19A1 [ EBI - ARRAY_EXPRESS ]   COL19A1 [ SEEK ]   COL19A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COL19A1 [ Firebrowse - Broad ]
GenevisibleExpression of COL19A1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1310
GTEX Portal (Tissue expression)COL19A1
Human Protein AtlasENSG00000082293-COL19A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14993   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14993  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14993
Splice isoforms : SwissVarQ14993
PhosPhoSitePlusQ14993
Domains : Interpro (EBI)Collagen    ConA-like_dom_sf    Laminin_G   
Domain families : Pfam (Sanger)Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam01391   
Domain families : Smart (EMBL)TSPN (SM00210)  
Conserved Domain (NCBI)COL19A1
Blocks (Seattle)COL19A1
SuperfamilyQ14993
Human Protein Atlas [tissue]ENSG00000082293-COL19A1 [tissue]
Peptide AtlasQ14993
IPIIPI00019090   IPI00647124   IPI00643686   
Protein Interaction databases
DIP (DOE-UCLA)Q14993
IntAct (EBI)Q14993
BioGRIDCOL19A1
STRING (EMBL)COL19A1
ZODIACCOL19A1
Ontologies - Pathways
QuickGOQ14993
Ontology : AmiGOskeletal system development  extracellular matrix structural constituent  extracellular matrix structural constituent  extracellular region  collagen trimer  extracellular space  endoplasmic reticulum lumen  cell adhesion  skeletal muscle tissue development  extracellular matrix structural constituent conferring tensile strength  cell differentiation  extracellular matrix organization  extracellular matrix organization  collagen catabolic process  protein binding, bridging  extracellular matrix  extracellular matrix  collagen-containing extracellular matrix  cell-cell adhesion  
Ontology : EGO-EBIskeletal system development  extracellular matrix structural constituent  extracellular matrix structural constituent  extracellular region  collagen trimer  extracellular space  endoplasmic reticulum lumen  cell adhesion  skeletal muscle tissue development  extracellular matrix structural constituent conferring tensile strength  cell differentiation  extracellular matrix organization  extracellular matrix organization  collagen catabolic process  protein binding, bridging  extracellular matrix  extracellular matrix  collagen-containing extracellular matrix  cell-cell adhesion  
NDEx NetworkCOL19A1
Atlas of Cancer Signalling NetworkCOL19A1
Wikipedia pathwaysCOL19A1
Orthology - Evolution
OrthoDB1310
GeneTree (enSembl)ENSG00000082293
Phylogenetic Trees/Animal Genes : TreeFamCOL19A1
HOGENOMQ14993
Homologs : HomoloGeneCOL19A1
Homology/Alignments : Family Browser (UCSC)COL19A1
Gene fusions - Rearrangements
Fusion : QuiverCOL19A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL19A1 [hg38]
dbVarCOL19A1
ClinVarCOL19A1
MonarchCOL19A1
1000_GenomesCOL19A1 
Exome Variant ServerCOL19A1
GNOMAD BrowserENSG00000082293
Varsome BrowserCOL19A1
Genomic Variants (DGV)COL19A1 [DGVbeta]
DECIPHERCOL19A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOL19A1 
Mutations
ICGC Data PortalCOL19A1 
TCGA Data PortalCOL19A1 
Broad Tumor PortalCOL19A1
OASIS PortalCOL19A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL19A1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCOL19A1
Mutations and Diseases : HGMDCOL19A1
BioMutasearch COL19A1
DgiDB (Drug Gene Interaction Database)COL19A1
DoCM (Curated mutations)COL19A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL19A1 (select a term)
intoGenCOL19A1
Cancer3DCOL19A1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120165   
Orphanet
DisGeNETCOL19A1
MedgenCOL19A1
Genetic Testing Registry COL19A1
NextProtQ14993 [Medical]
GENETestsCOL19A1
Target ValidationCOL19A1
Huge Navigator COL19A1 [HugePedia]
ClinGenCOL19A1
Clinical trials, drugs, therapy
MyCancerGenomeCOL19A1
Protein Interactions : CTD
Pharm GKB GenePA26712
Clinical trialCOL19A1
Miscellaneous
canSAR (ICR)COL19A1 (select the gene name)
HarmonizomeCOL19A1
DataMed IndexCOL19A1
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCOL19A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 5 20:44:05 CET 2020

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.