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COL23A1 (collagen type XXIII alpha 1 chain)

Identity

Alias_namescollagen
Alias_symbol (synonym)DKFZp434K0621
Other alias-
HGNC (Hugo) COL23A1
LocusID (NCBI) 91522
Atlas_Id 51636
Location 5q35.3  [Link to chromosome band 5q35]
Location_base_pair Starts at 178237616 and ends at 178590555 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
COL23A1 (5q35.3) / FAM193B (5q35.3)MAML1 (5q35.3) / COL23A1 (5q35.3)MED13L (12q24.21) / COL23A1 (5q35.3)
COL23A1 5q35.3 / FAM193B 5q35.3MED13L 12q24.21 / COL23A1 5q35.3

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)COL23A1   22990
Cards
Entrez_Gene (NCBI)COL23A1  91522  collagen type XXIII alpha 1 chain
Aliases
GeneCards (Weizmann)COL23A1
Ensembl hg19 (Hinxton)ENSG00000050767 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000050767 [Gene_View]  chr5:178237616-178590555 [Contig_View]  COL23A1 [Vega]
ICGC DataPortalENSG00000050767
TCGA cBioPortalCOL23A1
AceView (NCBI)COL23A1
Genatlas (Paris)COL23A1
WikiGenes91522
SOURCE (Princeton)COL23A1
Genetics Home Reference (NIH)COL23A1
Genomic and cartography
GoldenPath hg38 (UCSC)COL23A1  -     chr5:178237616-178590555 -  5q35.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL23A1  -     5q35.3   [Description]    (hg19-Feb_2009)
EnsemblCOL23A1 - 5q35.3 [CytoView hg19]  COL23A1 - 5q35.3 [CytoView hg38]
Mapping of homologs : NCBICOL23A1 [Mapview hg19]  COL23A1 [Mapview hg38]
OMIM610043   
Gene and transcription
Genbank (Entrez)AL137461 AW014891 AY158895 AY898961 BC042428
RefSeq transcript (Entrez)NM_173465
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COL23A1
Cluster EST : UnigeneHs.660026 [ NCBI ]
CGAP (NCI)Hs.660026
Alternative Splicing GalleryENSG00000050767
Gene ExpressionCOL23A1 [ NCBI-GEO ]   COL23A1 [ EBI - ARRAY_EXPRESS ]   COL23A1 [ SEEK ]   COL23A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COL23A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)91522
GTEX Portal (Tissue expression)COL23A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86Y22   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86Y22  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86Y22
Splice isoforms : SwissVarQ86Y22
PhosPhoSitePlusQ86Y22
Domains : Interpro (EBI)Collagen   
Domain families : Pfam (Sanger)Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam01391   
Conserved Domain (NCBI)COL23A1
DMDM Disease mutations91522
Blocks (Seattle)COL23A1
SuperfamilyQ86Y22
Human Protein AtlasENSG00000050767
Peptide AtlasQ86Y22
HPRD16733
IPIIPI00251596   IPI00217102   
Protein Interaction databases
DIP (DOE-UCLA)Q86Y22
IntAct (EBI)Q86Y22
FunCoupENSG00000050767
BioGRIDCOL23A1
STRING (EMBL)COL23A1
ZODIACCOL23A1
Ontologies - Pathways
QuickGOQ86Y22
Ontology : AmiGOprotein binding  collagen trimer  endoplasmic reticulum lumen  plasma membrane  integral component of membrane  
Ontology : EGO-EBIprotein binding  collagen trimer  endoplasmic reticulum lumen  plasma membrane  integral component of membrane  
NDEx NetworkCOL23A1
Atlas of Cancer Signalling NetworkCOL23A1
Wikipedia pathwaysCOL23A1
Orthology - Evolution
OrthoDB91522
GeneTree (enSembl)ENSG00000050767
Phylogenetic Trees/Animal Genes : TreeFamCOL23A1
HOVERGENQ86Y22
HOGENOMQ86Y22
Homologs : HomoloGeneCOL23A1
Homology/Alignments : Family Browser (UCSC)COL23A1
Gene fusions - Rearrangements
Fusion : MitelmanCOL23A1/FAM193B [5q35.3/5q35.3]  
Fusion : MitelmanMED13L/COL23A1 [12q24.21/5q35.3]  [t(5;12)(q35;q24)]  
Fusion: TCGACOL23A1 5q35.3 FAM193B 5q35.3 OV
Fusion: TCGAMED13L 12q24.21 COL23A1 5q35.3 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL23A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL23A1
dbVarCOL23A1
ClinVarCOL23A1
1000_GenomesCOL23A1 
Exome Variant ServerCOL23A1
ExAC (Exome Aggregation Consortium)COL23A1 (select the gene name)
Genetic variants : HAPMAP91522
Genomic Variants (DGV)COL23A1 [DGVbeta]
DECIPHERCOL23A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOL23A1 
Mutations
ICGC Data PortalCOL23A1 
TCGA Data PortalCOL23A1 
Broad Tumor PortalCOL23A1
OASIS PortalCOL23A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL23A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOL23A1
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 COL23A1
DgiDB (Drug Gene Interaction Database)COL23A1
DoCM (Curated mutations)COL23A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL23A1 (select a term)
intoGenCOL23A1
Cancer3DCOL23A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610043   
Orphanet
MedgenCOL23A1
Genetic Testing Registry COL23A1
NextProtQ86Y22 [Medical]
TSGene91522
GENETestsCOL23A1
Target ValidationCOL23A1
Huge Navigator COL23A1 [HugePedia]
snp3D : Map Gene to Disease91522
BioCentury BCIQCOL23A1
ClinGenCOL23A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD91522
Chemical/Pharm GKB GenePA134899251
Clinical trialCOL23A1
Miscellaneous
canSAR (ICR)COL23A1 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL23A1
EVEXCOL23A1
GoPubMedCOL23A1
iHOPCOL23A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:29:07 CEST 2017

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