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COL17A1 (collagen type XVII alpha 1)

Identity

Alias_namesBPAG2
collagen
Alias_symbol (synonym)BP180
Other aliasBA16H23.2
BPA-2
ERED
LAD-1
HGNC (Hugo) COL17A1
LocusID (NCBI) 1308
Atlas_Id 46288
Location 10q24.33  [Link to chromosome band 10q24]
Location_base_pair Starts at 105791046 and ends at 105845638 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
TNC (9q33.1) / COL17A1 (10q24.33)TNC 9q33.1 / COL17A1 10q24.33

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)COL17A1   2194
Cards
Entrez_Gene (NCBI)COL17A1  1308  collagen type XVII alpha 1
AliasesBA16H23.2; BP180; BPA-2; BPAG2; 
ERED; LAD-1
GeneCards (Weizmann)COL17A1
Ensembl hg19 (Hinxton)ENSG00000065618 [Gene_View]  chr10:105791046-105845638 [Contig_View]  COL17A1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000065618 [Gene_View]  chr10:105791046-105845638 [Contig_View]  COL17A1 [Vega]
ICGC DataPortalENSG00000065618
TCGA cBioPortalCOL17A1
AceView (NCBI)COL17A1
Genatlas (Paris)COL17A1
WikiGenes1308
SOURCE (Princeton)COL17A1
Genetics Home Reference (NIH)COL17A1
Genomic and cartography
GoldenPath hg19 (UCSC)COL17A1  -     chr10:105791046-105845638 -  10q24.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COL17A1  -     10q24.33   [Description]    (hg38-Dec_2013)
EnsemblCOL17A1 - 10q24.33 [CytoView hg19]  COL17A1 - 10q24.33 [CytoView hg38]
Mapping of homologs : NCBICOL17A1 [Mapview hg19]  COL17A1 [Mapview hg38]
OMIM113811   122400   226650   
Gene and transcription
Genbank (Entrez)AB900157 AF136185 AF136186 AK309940 AU076442
RefSeq transcript (Entrez)NM_000494 NM_130778
RefSeq genomic (Entrez)NC_000010 NC_018921 NG_007069 NT_030059 NW_004929376
Consensus coding sequences : CCDS (NCBI)COL17A1
Cluster EST : UnigeneHs.732773 [ NCBI ]
CGAP (NCI)Hs.732773
Alternative Splicing GalleryENSG00000065618
Gene ExpressionCOL17A1 [ NCBI-GEO ]   COL17A1 [ EBI - ARRAY_EXPRESS ]   COL17A1 [ SEEK ]   COL17A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COL17A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1308
GTEX Portal (Tissue expression)COL17A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UMD9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UMD9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UMD9
Splice isoforms : SwissVarQ9UMD9
PhosPhoSitePlusQ9UMD9
Domains : Interpro (EBI)Collagen   
Domain families : Pfam (Sanger)Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam01391   
Conserved Domain (NCBI)COL17A1
DMDM Disease mutations1308
Blocks (Seattle)COL17A1
SuperfamilyQ9UMD9
Human Protein AtlasENSG00000065618
Peptide AtlasQ9UMD9
HPRD00223
IPIIPI00398272   IPI00643731   IPI01009188   IPI00642268   IPI00852576   
Protein Interaction databases
DIP (DOE-UCLA)Q9UMD9
IntAct (EBI)Q9UMD9
FunCoupENSG00000065618
BioGRIDCOL17A1
STRING (EMBL)COL17A1
ZODIACCOL17A1
Ontologies - Pathways
QuickGOQ9UMD9
Ontology : AmiGOprotein binding  extracellular region  collagen trimer  basement membrane  endoplasmic reticulum lumen  plasma membrane  integral component of plasma membrane  cell-cell junction  cell-matrix adhesion  epidermis development  hemidesmosome  hemidesmosome assembly  hemidesmosome assembly  regulation of immune response  
Ontology : EGO-EBIprotein binding  extracellular region  collagen trimer  basement membrane  endoplasmic reticulum lumen  plasma membrane  integral component of plasma membrane  cell-cell junction  cell-matrix adhesion  epidermis development  hemidesmosome  hemidesmosome assembly  hemidesmosome assembly  regulation of immune response  
Pathways : KEGGProtein digestion and absorption   
NDEx NetworkCOL17A1
Atlas of Cancer Signalling NetworkCOL17A1
Wikipedia pathwaysCOL17A1
Orthology - Evolution
OrthoDB1308
GeneTree (enSembl)ENSG00000065618
Phylogenetic Trees/Animal Genes : TreeFamCOL17A1
HOVERGENQ9UMD9
HOGENOMQ9UMD9
Homologs : HomoloGeneCOL17A1
Homology/Alignments : Family Browser (UCSC)COL17A1
Gene fusions - Rearrangements
Fusion : MitelmanTNC/COL17A1 [9q33.1/10q24.33]  [t(9;10)(q33;q25)]  
Fusion: TCGATNC 9q33.1 COL17A1 10q24.33 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL17A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL17A1
dbVarCOL17A1
ClinVarCOL17A1
1000_GenomesCOL17A1 
Exome Variant ServerCOL17A1
ExAC (Exome Aggregation Consortium)COL17A1 (select the gene name)
Genetic variants : HAPMAP1308
Genomic Variants (DGV)COL17A1 [DGVbeta]
DECIPHER (Syndromes)10:105791046-105845638  ENSG00000065618
CONAN: Copy Number AnalysisCOL17A1 
Mutations
ICGC Data PortalCOL17A1 
TCGA Data PortalCOL17A1 
Broad Tumor PortalCOL17A1
OASIS PortalCOL17A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL17A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOL17A1
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 COL17A1
DgiDB (Drug Gene Interaction Database)COL17A1
DoCM (Curated mutations)COL17A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL17A1 (select a term)
intoGenCOL17A1
Cancer3DCOL17A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM113811    122400    226650   
Orphanet19640    20856    11428    11432   
MedgenCOL17A1
Genetic Testing Registry COL17A1
NextProtQ9UMD9 [Medical]
TSGene1308
GENETestsCOL17A1
Huge Navigator COL17A1 [HugePedia]
snp3D : Map Gene to Disease1308
BioCentury BCIQCOL17A1
ClinGenCOL17A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1308
Chemical/Pharm GKB GenePA26710
Clinical trialCOL17A1
Miscellaneous
canSAR (ICR)COL17A1 (select the gene name)
Probes
Litterature
PubMed96 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL17A1
EVEXCOL17A1
GoPubMedCOL17A1
iHOPCOL17A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:57:10 CEST 2017

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