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COL19A1 (collagen type XIX alpha 1 chain)

Identity

Other aliasCOL9A1L
D6S228E
HGNC (Hugo) COL19A1
LocusID (NCBI) 1310
Atlas_Id 57362
Location 6q13  [Link to chromosome band 6q13]
Location_base_pair Starts at 69866556 and ends at 70212454 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  1310  collagen type XIX alpha 1 chain
AliasesCOL9A1L; D6S228E
GeneCards (Weizmann)COL19A1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]   [Sequence]  chr6:69866556-70212454 [Contig_View]  COL19A1 [Vega]
TCGA cBioPortalCOL19A1
AceView (NCBI)COL19A1
Genatlas (Paris)COL19A1
WikiGenes1310
SOURCE (Princeton)COL19A1
Genetics Home Reference (NIH)COL19A1
Genomic and cartography
GoldenPath hg38 (UCSC)COL19A1  -     chr6:69866556-70212454 +  6q13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL19A1  -     6q13   [Description]    (hg19-Feb_2009)
EnsemblCOL19A1 - 6q13 [CytoView hg19]  COL19A1 - 6q13 [CytoView hg38]
Mapping of homologs : NCBICOL19A1 [Mapview hg19]  COL19A1 [Mapview hg38]
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
Cluster EST : UnigeneHs.444842 [ NCBI ]
CGAP (NCI)Hs.444842
Gene ExpressionCOL19A1 [ NCBI-GEO ]   COL19A1 [ EBI - ARRAY_EXPRESS ]   COL19A1 [ SEEK ]   COL19A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COL19A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1310
GTEX Portal (Tissue expression)COL19A1
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    Laminin_G   
Domain families : Pfam (Sanger)Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam01391   
Domain families : Smart (EMBL)TSPN (SM00210)  
Conserved Domain (NCBI)COL19A1
DMDM Disease mutations1310
Blocks (Seattle)COL19A1
SuperfamilyQ14993
Peptide AtlasQ14993
IPIIPI00019090   IPI00647124   IPI00643686   
Protein Interaction databases
DIP (DOE-UCLA)Q14993
IntAct (EBI)Q14993
BioGRIDCOL19A1
STRING (EMBL)COL19A1
ZODIACCOL19A1
Ontologies - Pathways
QuickGOQ14993
Ontology : AmiGO###############################################################################################################################################################################################################################################################                          
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                          
NDEx NetworkCOL19A1
Atlas of Cancer Signalling NetworkCOL19A1
Wikipedia pathwaysCOL19A1
Orthology - Evolution
OrthoDB1310
Phylogenetic Trees/Animal Genes : TreeFamCOL19A1
HOVERGENQ14993
HOGENOMQ14993
Homologs : HomoloGeneCOL19A1
Homology/Alignments : Family Browser (UCSC)COL19A1
Gene fusions - Rearrangements
Fusion : QuiverCOL19A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL19A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL19A1
dbVarCOL19A1
ClinVarCOL19A1
1000_GenomesCOL19A1 
Exome Variant ServerCOL19A1
Genetic variants : HAPMAP1310
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120165   
Orphanet
DisGeNETCOL19A1
MedgenCOL19A1
Genetic Testing Registry COL19A1
NextProtQ14993 [Medical]
TSGene1310
GENETestsCOL19A1
Target ValidationCOL19A1
Huge Navigator COL19A1 [HugePedia]
snp3D : Map Gene to Disease1310
BioCentury BCIQCOL19A1
ClinGenCOL19A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1310
Chemical/Pharm GKB GenePA26712
Clinical trialCOL19A1
Miscellaneous
canSAR (ICR)COL19A1 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL19A1
EVEXCOL19A1
GoPubMedCOL19A1
iHOPCOL19A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 22 16:20:19 CEST 2018

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