Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

COL28A1 (collagen type XXVIII alpha 1 chain)

Identity

Alias_namescollagen, type XXVIII, alpha 1
Other aliasCOL28
HGNC (Hugo) COL28A1
LocusID (NCBI) 340267
Atlas_Id 61991
Location 7p21.3  [Link to chromosome band 7p21]
Location_base_pair Starts at 7358613 and ends at 7535829 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)

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)COL28A1   22442
Cards
Entrez_Gene (NCBI)COL28A1  340267  collagen type XXVIII alpha 1 chain
AliasesCOL28
GeneCards (Weizmann)COL28A1
Ensembl hg19 (Hinxton)ENSG00000215018 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000215018 [Gene_View]  chr7:7358613-7535829 [Contig_View]  COL28A1 [Vega]
ICGC DataPortalENSG00000215018
TCGA cBioPortalCOL28A1
AceView (NCBI)COL28A1
Genatlas (Paris)COL28A1
WikiGenes340267
SOURCE (Princeton)COL28A1
Genetics Home Reference (NIH)COL28A1
Genomic and cartography
GoldenPath hg38 (UCSC)COL28A1  -     chr7:7358613-7535829 -  7p21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL28A1  -     7p21.3   [Description]    (hg19-Feb_2009)
EnsemblCOL28A1 - 7p21.3 [CytoView hg19]  COL28A1 - 7p21.3 [CytoView hg38]
Mapping of homologs : NCBICOL28A1 [Mapview hg19]  COL28A1 [Mapview hg38]
OMIM609996   
Gene and transcription
Genbank (Entrez)AJ890451 AJ890452 AJ890453 BC063866 BC136892
RefSeq transcript (Entrez)NM_001037763
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COL28A1
Cluster EST : UnigeneHs.491104 [ NCBI ]
CGAP (NCI)Hs.491104
Alternative Splicing GalleryENSG00000215018
Gene ExpressionCOL28A1 [ NCBI-GEO ]   COL28A1 [ EBI - ARRAY_EXPRESS ]   COL28A1 [ SEEK ]   COL28A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COL28A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)340267
GTEX Portal (Tissue expression)COL28A1
Human Protein AtlasENSG00000215018-COL28A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ2UY09   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ2UY09  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ2UY09
Splice isoforms : SwissVarQ2UY09
PhosPhoSitePlusQ2UY09
Domaine pattern : Prosite (Expaxy)BPTI_KUNITZ_1 (PS00280)    BPTI_KUNITZ_2 (PS50279)    VWFA (PS50234)   
Domains : Interpro (EBI)Collagen    Kunitz_BPTI    Prtase_inh_Kunz-CS    VWF_A   
Domain families : Pfam (Sanger)Collagen (PF01391)    Kunitz_BPTI (PF00014)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam01391    pfam00014    pfam00092   
Domain families : Smart (EMBL)KU (SM00131)  VWA (SM00327)  
Conserved Domain (NCBI)COL28A1
DMDM Disease mutations340267
Blocks (Seattle)COL28A1
SuperfamilyQ2UY09
Human Protein Atlas [tissue]ENSG00000215018-COL28A1 [tissue]
Peptide AtlasQ2UY09
IPIIPI00657936   IPI00235632   IPI00885128   IPI00847169   IPI00894116   
Protein Interaction databases
DIP (DOE-UCLA)Q2UY09
IntAct (EBI)Q2UY09
FunCoupENSG00000215018
BioGRIDCOL28A1
STRING (EMBL)COL28A1
ZODIACCOL28A1
Ontologies - Pathways
QuickGOQ2UY09
Ontology : AmiGOserine-type endopeptidase inhibitor activity  extracellular region  collagen trimer  basement membrane  endoplasmic reticulum lumen  cell adhesion  negative regulation of endopeptidase activity  
Ontology : EGO-EBIserine-type endopeptidase inhibitor activity  extracellular region  collagen trimer  basement membrane  endoplasmic reticulum lumen  cell adhesion  negative regulation of endopeptidase activity  
NDEx NetworkCOL28A1
Atlas of Cancer Signalling NetworkCOL28A1
Wikipedia pathwaysCOL28A1
Orthology - Evolution
OrthoDB340267
GeneTree (enSembl)ENSG00000215018
Phylogenetic Trees/Animal Genes : TreeFamCOL28A1
HOVERGENQ2UY09
HOGENOMQ2UY09
Homologs : HomoloGeneCOL28A1
Homology/Alignments : Family Browser (UCSC)COL28A1
Gene fusions - Rearrangements
Tumor Fusion PortalCOL28A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL28A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL28A1
dbVarCOL28A1
ClinVarCOL28A1
1000_GenomesCOL28A1 
Exome Variant ServerCOL28A1
ExAC (Exome Aggregation Consortium)ENSG00000215018
GNOMAD BrowserENSG00000215018
Genetic variants : HAPMAP340267
Genomic Variants (DGV)COL28A1 [DGVbeta]
DECIPHERCOL28A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOL28A1 
Mutations
ICGC Data PortalCOL28A1 
TCGA Data PortalCOL28A1 
Broad Tumor PortalCOL28A1
OASIS PortalCOL28A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL28A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOL28A1
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 COL28A1
DgiDB (Drug Gene Interaction Database)COL28A1
DoCM (Curated mutations)COL28A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL28A1 (select a term)
intoGenCOL28A1
Cancer3DCOL28A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609996   
Orphanet
DisGeNETCOL28A1
MedgenCOL28A1
Genetic Testing Registry COL28A1
NextProtQ2UY09 [Medical]
TSGene340267
GENETestsCOL28A1
Target ValidationCOL28A1
Huge Navigator COL28A1 [HugePedia]
snp3D : Map Gene to Disease340267
BioCentury BCIQCOL28A1
ClinGenCOL28A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD340267
Chemical/Pharm GKB GenePA143485437
Clinical trialCOL28A1
Miscellaneous
canSAR (ICR)COL28A1 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL28A1
EVEXCOL28A1
GoPubMedCOL28A1
iHOPCOL28A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:15:53 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.