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COL22A1 (collagen type XXII alpha 1 chain)

Identity

Alias_namescollagen, type XXII, alpha 1
Other alias-
HGNC (Hugo) COL22A1
LocusID (NCBI) 169044
Atlas_Id 61988
Location 8q24.23  [Link to chromosome band 8q24]
Location_base_pair Starts at 138588235 and ends at 138914006 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARHGAP35 (19q13.32) / COL22A1 (8q24.23)COL22A1 (8q24.23) / RAD54B (8q22.1)SNTB1 (8q24.12) / COL22A1 (8q24.23)
ST3GAL1 (8q24.22) / COL22A1 (8q24.23)TRAPPC9 (8q24.3) / COL22A1 (8q24.23)TSNARE1 (8q24.3) / COL22A1 (8q24.23)
SNTB1 COL22A1ST3GAL1 COL22A1ARHGAP35 COL22A1
TRAPPC9 COL22A1TSNARE1 COL22A1

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)COL22A1   22989
Cards
Entrez_Gene (NCBI)COL22A1  169044  collagen type XXII alpha 1 chain
Aliases
GeneCards (Weizmann)COL22A1
Ensembl hg19 (Hinxton)ENSG00000169436 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169436 [Gene_View]  chr8:138588235-138914006 [Contig_View]  COL22A1 [Vega]
ICGC DataPortalENSG00000169436
TCGA cBioPortalCOL22A1
AceView (NCBI)COL22A1
Genatlas (Paris)COL22A1
WikiGenes169044
SOURCE (Princeton)COL22A1
Genetics Home Reference (NIH)COL22A1
Genomic and cartography
GoldenPath hg38 (UCSC)COL22A1  -     chr8:138588235-138914006 -  8q24.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL22A1  -     8q24.23   [Description]    (hg19-Feb_2009)
EnsemblCOL22A1 - 8q24.23 [CytoView hg19]  COL22A1 - 8q24.23 [CytoView hg38]
Mapping of homologs : NCBICOL22A1 [Mapview hg19]  COL22A1 [Mapview hg38]
OMIM610026   
Gene and transcription
Genbank (Entrez)AA781676 AF406780 BC042075 BC144535 BC172420
RefSeq transcript (Entrez)NM_152888
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COL22A1
Cluster EST : UnigeneHs.117169 [ NCBI ]
CGAP (NCI)Hs.117169
Alternative Splicing GalleryENSG00000169436
Gene ExpressionCOL22A1 [ NCBI-GEO ]   COL22A1 [ EBI - ARRAY_EXPRESS ]   COL22A1 [ SEEK ]   COL22A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COL22A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)169044
GTEX Portal (Tissue expression)COL22A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NFW1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NFW1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NFW1
Splice isoforms : SwissVarQ8NFW1
PhosPhoSitePlusQ8NFW1
Domaine pattern : Prosite (Expaxy)VWFA (PS50234)   
Domains : Interpro (EBI)Collagen    ConA-like_dom    Laminin_G    VWF_A   
Domain families : Pfam (Sanger)Collagen (PF01391)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam01391    pfam00092   
Domain families : Smart (EMBL)TSPN (SM00210)  VWA (SM00327)  
Conserved Domain (NCBI)COL22A1
DMDM Disease mutations169044
Blocks (Seattle)COL22A1
SuperfamilyQ8NFW1
Human Protein AtlasENSG00000169436
Peptide AtlasQ8NFW1
HPRD09885
IPIIPI00303152   IPI00383440   IPI00945822   IPI00984628   
Protein Interaction databases
DIP (DOE-UCLA)Q8NFW1
IntAct (EBI)Q8NFW1
FunCoupENSG00000169436
BioGRIDCOL22A1
STRING (EMBL)COL22A1
ZODIACCOL22A1
Ontologies - Pathways
QuickGOQ8NFW1
Ontology : AmiGOextracellular region  proteinaceous extracellular matrix  collagen trimer  endoplasmic reticulum lumen  
Ontology : EGO-EBIextracellular region  proteinaceous extracellular matrix  collagen trimer  endoplasmic reticulum lumen  
Pathways : KEGGProtein digestion and absorption   
NDEx NetworkCOL22A1
Atlas of Cancer Signalling NetworkCOL22A1
Wikipedia pathwaysCOL22A1
Orthology - Evolution
OrthoDB169044
GeneTree (enSembl)ENSG00000169436
Phylogenetic Trees/Animal Genes : TreeFamCOL22A1
HOVERGENQ8NFW1
HOGENOMQ8NFW1
Homologs : HomoloGeneCOL22A1
Homology/Alignments : Family Browser (UCSC)COL22A1
Gene fusions - Rearrangements
Fusion: TCGASNTB1 COL22A1
Fusion: TCGAST3GAL1 COL22A1
Fusion: TCGAARHGAP35 COL22A1
Fusion: TCGATRAPPC9 COL22A1
Fusion: TCGATSNARE1 COL22A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL22A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL22A1
dbVarCOL22A1
ClinVarCOL22A1
1000_GenomesCOL22A1 
Exome Variant ServerCOL22A1
ExAC (Exome Aggregation Consortium)COL22A1 (select the gene name)
Genetic variants : HAPMAP169044
Genomic Variants (DGV)COL22A1 [DGVbeta]
DECIPHERCOL22A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOL22A1 
Mutations
ICGC Data PortalCOL22A1 
TCGA Data PortalCOL22A1 
Broad Tumor PortalCOL22A1
OASIS PortalCOL22A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL22A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOL22A1
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 COL22A1
DgiDB (Drug Gene Interaction Database)COL22A1
DoCM (Curated mutations)COL22A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL22A1 (select a term)
intoGenCOL22A1
Cancer3DCOL22A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610026   
Orphanet
MedgenCOL22A1
Genetic Testing Registry COL22A1
NextProtQ8NFW1 [Medical]
TSGene169044
GENETestsCOL22A1
Target ValidationCOL22A1
Huge Navigator COL22A1 [HugePedia]
snp3D : Map Gene to Disease169044
BioCentury BCIQCOL22A1
ClinGenCOL22A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD169044
Chemical/Pharm GKB GenePA134914705
Clinical trialCOL22A1
Miscellaneous
canSAR (ICR)COL22A1 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL22A1
EVEXCOL22A1
GoPubMedCOL22A1
iHOPCOL22A1
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 15:44:11 CEST 2017

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