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COL24A1 (collagen, type XXIV, alpha 1)

Identity

Alias_namescollagen, type XXIV, alpha 1
Other alias-
HGNC (Hugo) COL24A1
LocusID (NCBI) 255631
Atlas_Id 61989
Location 1p22.3  [Link to chromosome band 1p22]
Location_base_pair Starts at 86194916 and ends at 86622121 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ARHGAP29 (1p22.1) / COL24A1 (1p22.3)CASK (Xp11.4) / COL24A1 (1p22.3)COL24A1 (1p22.3) / TMEM181 (6q25.3)
PKN2 (1p22.2) / COL24A1 (1p22.3)SNRPD2 (19q13.32) / COL24A1 (1p22.3)TRIM33 (1p13.2) / COL24A1 (1p22.3)
UBE2E1 (3p24.3) / COL24A1 (1p22.3)PKN2 COL24A1TRIM33 COL24A1

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)COL24A1   20821
Cards
Entrez_Gene (NCBI)COL24A1  255631  collagen, type XXIV, alpha 1
Aliases
GeneCards (Weizmann)COL24A1
Ensembl hg19 (Hinxton)ENSG00000171502 [Gene_View]  chr1:86194916-86622121 [Contig_View]  COL24A1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000171502 [Gene_View]  chr1:86194916-86622121 [Contig_View]  COL24A1 [Vega]
ICGC DataPortalENSG00000171502
TCGA cBioPortalCOL24A1
AceView (NCBI)COL24A1
Genatlas (Paris)COL24A1
WikiGenes255631
SOURCE (Princeton)COL24A1
Genetics Home Reference (NIH)COL24A1
Genomic and cartography
GoldenPath hg19 (UCSC)COL24A1  -     chr1:86194916-86622121 -  1p22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COL24A1  -     1p22.3   [Description]    (hg38-Dec_2013)
EnsemblCOL24A1 - 1p22.3 [CytoView hg19]  COL24A1 - 1p22.3 [CytoView hg38]
Mapping of homologs : NCBICOL24A1 [Mapview hg19]  COL24A1 [Mapview hg38]
OMIM610025   
Gene and transcription
Genbank (Entrez)AB209686 AK094856 AK308953 AY244357 BC113654
RefSeq transcript (Entrez)NM_152890
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)COL24A1
Cluster EST : UnigeneHs.659516 [ NCBI ]
CGAP (NCI)Hs.659516
Alternative Splicing GalleryENSG00000171502
Gene ExpressionCOL24A1 [ NCBI-GEO ]   COL24A1 [ EBI - ARRAY_EXPRESS ]   COL24A1 [ SEEK ]   COL24A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COL24A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)255631
GTEX Portal (Tissue expression)COL24A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ17RW2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ17RW2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ17RW2
Splice isoforms : SwissVarQ17RW2
PhosPhoSitePlusQ17RW2
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)    Laminin_G_2 (PF02210)   
Domain families : Pfam (NCBI)pfam01410    pfam01391    pfam02210   
Domain families : Smart (EMBL)COLFI (SM00038)  TSPN (SM00210)  
Domain structure : Prodom (Prabi Lyon)Fib_collagen_C (PD002078)   
Conserved Domain (NCBI)COL24A1
DMDM Disease mutations255631
Blocks (Seattle)COL24A1
SuperfamilyQ17RW2
Human Protein AtlasENSG00000171502
Peptide AtlasQ17RW2
HPRD10846
IPIIPI00168920   IPI00878900   IPI00984549   IPI00976383   
Protein Interaction databases
DIP (DOE-UCLA)Q17RW2
IntAct (EBI)Q17RW2
FunCoupENSG00000171502
BioGRIDCOL24A1
STRING (EMBL)COL24A1
ZODIACCOL24A1
Ontologies - Pathways
QuickGOQ17RW2
Ontology : AmiGOhematopoietic progenitor cell differentiation  extracellular matrix structural constituent  protein binding  extracellular region  proteinaceous extracellular matrix  collagen trimer  endoplasmic reticulum lumen  extracellular matrix organization  
Ontology : EGO-EBIhematopoietic progenitor cell differentiation  extracellular matrix structural constituent  protein binding  extracellular region  proteinaceous extracellular matrix  collagen trimer  endoplasmic reticulum lumen  extracellular matrix organization  
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Protein digestion and absorption    Amoebiasis   
NDEx NetworkCOL24A1
Atlas of Cancer Signalling NetworkCOL24A1
Wikipedia pathwaysCOL24A1
Orthology - Evolution
OrthoDB255631
GeneTree (enSembl)ENSG00000171502
Phylogenetic Trees/Animal Genes : TreeFamCOL24A1
HOVERGENQ17RW2
HOGENOMQ17RW2
Homologs : HomoloGeneCOL24A1
Homology/Alignments : Family Browser (UCSC)COL24A1
Gene fusions - Rearrangements
Fusion: TCGAPKN2 COL24A1
Fusion: TCGATRIM33 COL24A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL24A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL24A1
dbVarCOL24A1
ClinVarCOL24A1
1000_GenomesCOL24A1 
Exome Variant ServerCOL24A1
ExAC (Exome Aggregation Consortium)COL24A1 (select the gene name)
Genetic variants : HAPMAP255631
Genomic Variants (DGV)COL24A1 [DGVbeta]
DECIPHER (Syndromes)1:86194916-86622121  ENSG00000171502
CONAN: Copy Number AnalysisCOL24A1 
Mutations
ICGC Data PortalCOL24A1 
TCGA Data PortalCOL24A1 
Broad Tumor PortalCOL24A1
OASIS PortalCOL24A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL24A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOL24A1
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 COL24A1
DgiDB (Drug Gene Interaction Database)COL24A1
DoCM (Curated mutations)COL24A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL24A1 (select a term)
intoGenCOL24A1
Cancer3DCOL24A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610025   
Orphanet
MedgenCOL24A1
Genetic Testing Registry COL24A1
NextProtQ17RW2 [Medical]
TSGene255631
GENETestsCOL24A1
Huge Navigator COL24A1 [HugePedia]
snp3D : Map Gene to Disease255631
BioCentury BCIQCOL24A1
ClinGenCOL24A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD255631
Chemical/Pharm GKB GenePA134932695
Clinical trialCOL24A1
Miscellaneous
canSAR (ICR)COL24A1 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL24A1
EVEXCOL24A1
GoPubMedCOL24A1
iHOPCOL24A1
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 : Tue Mar 14 11:59:58 CET 2017

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