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COL27A1 (collagen type XXVII alpha 1 chain)

Identity

Alias_namescollagen, type XXVII, alpha 1
collagen type XXVII alpha 1
Alias_symbol (synonym)KIAA1870
MGC11337
FLJ11895
Other aliasSTLS
HGNC (Hugo) COL27A1
LocusID (NCBI) 85301
Atlas_Id 61990
Location 9q32  [Link to chromosome band 9q32]
Location_base_pair Starts at 114155545 and ends at 114312516 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)
COL27A1 (9q32) / COL27A1 (9q32)PDZD2 (5p13.3) / COL27A1 (9q32)SCNN1G (16p12.2) / COL27A1 (9q32)
VAV2 (9q34.2) / COL27A1 (9q32)SCNN1G COL27A1PDZD2 COL27A1
VAV2 COL27A1

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)COL27A1   22986
Cards
Entrez_Gene (NCBI)COL27A1  85301  collagen type XXVII alpha 1 chain
AliasesSTLS
GeneCards (Weizmann)COL27A1
Ensembl hg19 (Hinxton)ENSG00000196739 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196739 [Gene_View]  chr9:114155545-114312516 [Contig_View]  COL27A1 [Vega]
ICGC DataPortalENSG00000196739
TCGA cBioPortalCOL27A1
AceView (NCBI)COL27A1
Genatlas (Paris)COL27A1
WikiGenes85301
SOURCE (Princeton)COL27A1
Genetics Home Reference (NIH)COL27A1
Genomic and cartography
GoldenPath hg38 (UCSC)COL27A1  -     chr9:114155545-114312516 +  9q32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL27A1  -     9q32   [Description]    (hg19-Feb_2009)
EnsemblCOL27A1 - 9q32 [CytoView hg19]  COL27A1 - 9q32 [CytoView hg38]
Mapping of homologs : NCBICOL27A1 [Mapview hg19]  COL27A1 [Mapview hg38]
OMIM608461   615155   
Gene and transcription
Genbank (Entrez)AB058773 AI808820 AK021957 AK126618 AY149237
RefSeq transcript (Entrez)NM_032161 NM_032888
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COL27A1
Cluster EST : UnigeneHs.593318 [ NCBI ]
CGAP (NCI)Hs.593318
Alternative Splicing GalleryENSG00000196739
Gene ExpressionCOL27A1 [ NCBI-GEO ]   COL27A1 [ EBI - ARRAY_EXPRESS ]   COL27A1 [ SEEK ]   COL27A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COL27A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)85301
GTEX Portal (Tissue expression)COL27A1
Human Protein AtlasENSG00000196739-COL27A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IZC6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IZC6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IZC6
Splice isoforms : SwissVarQ8IZC6
PhosPhoSitePlusQ8IZC6
Domaine pattern : Prosite (Expaxy)NC1_FIB (PS51461)   
Domains : Interpro (EBI)Collagen    ConA-like_dom    Fib_collagen_C    Laminin_G   
Domain families : Pfam (Sanger)COLFI (PF01410)    Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam01410    pfam01391   
Domain families : Smart (EMBL)COLFI (SM00038)  TSPN (SM00210)  
Domain structure : Prodom (Prabi Lyon)Fib_collagen_C (PD002078)   
Conserved Domain (NCBI)COL27A1
DMDM Disease mutations85301
Blocks (Seattle)COL27A1
SuperfamilyQ8IZC6
Human Protein Atlas [tissue]ENSG00000196739-COL27A1 [tissue]
Peptide AtlasQ8IZC6
HPRD09767
IPIIPI00844557   IPI00878879   IPI00878670   IPI00479904   IPI00386934   IPI00514898   IPI00981293   
Protein Interaction databases
DIP (DOE-UCLA)Q8IZC6
IntAct (EBI)Q8IZC6
FunCoupENSG00000196739
BioGRIDCOL27A1
STRING (EMBL)COL27A1
ZODIACCOL27A1
Ontologies - Pathways
QuickGOQ8IZC6
Ontology : AmiGOgrowth plate cartilage chondrocyte development  extracellular matrix structural constituent  extracellular region  fibrillar collagen trimer  endoplasmic reticulum lumen  extracellular matrix organization  metal ion binding  
Ontology : EGO-EBIgrowth plate cartilage chondrocyte development  extracellular matrix structural constituent  extracellular region  fibrillar collagen trimer  endoplasmic reticulum lumen  extracellular matrix organization  metal ion binding  
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Protein digestion and absorption    Amoebiasis   
NDEx NetworkCOL27A1
Atlas of Cancer Signalling NetworkCOL27A1
Wikipedia pathwaysCOL27A1
Orthology - Evolution
OrthoDB85301
GeneTree (enSembl)ENSG00000196739
Phylogenetic Trees/Animal Genes : TreeFamCOL27A1
HOVERGENQ8IZC6
HOGENOMQ8IZC6
Homologs : HomoloGeneCOL27A1
Homology/Alignments : Family Browser (UCSC)COL27A1
Gene fusions - Rearrangements
Fusion: TCGASCNN1G COL27A1
Fusion: TCGAPDZD2 COL27A1
Fusion: TCGAVAV2 COL27A1
Fusion: Tumor Portal COL27A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL27A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL27A1
dbVarCOL27A1
ClinVarCOL27A1
1000_GenomesCOL27A1 
Exome Variant ServerCOL27A1
ExAC (Exome Aggregation Consortium)ENSG00000196739
GNOMAD BrowserENSG00000196739
Genetic variants : HAPMAP85301
Genomic Variants (DGV)COL27A1 [DGVbeta]
DECIPHERCOL27A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOL27A1 
Mutations
ICGC Data PortalCOL27A1 
TCGA Data PortalCOL27A1 
Broad Tumor PortalCOL27A1
OASIS PortalCOL27A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL27A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOL27A1
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 COL27A1
DgiDB (Drug Gene Interaction Database)COL27A1
DoCM (Curated mutations)COL27A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL27A1 (select a term)
intoGenCOL27A1
Cancer3DCOL27A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608461    615155   
Orphanet23364   
MedgenCOL27A1
Genetic Testing Registry COL27A1
NextProtQ8IZC6 [Medical]
TSGene85301
GENETestsCOL27A1
Target ValidationCOL27A1
Huge Navigator COL27A1 [HugePedia]
snp3D : Map Gene to Disease85301
BioCentury BCIQCOL27A1
ClinGenCOL27A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD85301
Chemical/Pharm GKB GenePA134990818
Clinical trialCOL27A1
Miscellaneous
canSAR (ICR)COL27A1 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL27A1
EVEXCOL27A1
GoPubMedCOL27A1
iHOPCOL27A1
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 : Thu Nov 9 11:43:05 CET 2017

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