Atlas of Genetics and Cytogenetics in Oncology and Haematology


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COL4A6 (collagen, type IV, alpha 6)

Identity

Other namesCXDELq22.3
DELXq22.3
DFNX6
HGNC (Hugo) COL4A6
LocusID (NCBI) 1288
Location Xq22.3
Location_base_pair Starts at 107398837 and ends at 107681660 bp from pter ( according to hg19-Feb_2009)
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)COL4A6   2208
Cards
Entrez_Gene (NCBI)COL4A6  1288  collagen, type IV, alpha 6
GeneCards (Weizmann)COL4A6
Ensembl (Hinxton)ENSG00000197565 [Gene_View]  chrX:107398837-107681660 [Contig_View]  COL4A6 [Vega]
ICGC DataPortalENSG00000197565
cBioPortalCOL4A6
AceView (NCBI)COL4A6
Genatlas (Paris)COL4A6
WikiGenes1288
SOURCE (Princeton)NM_001287758 NM_001287759 NM_001287760 NM_001847 NM_033641
Genomic and cartography
GoldenPath (UCSC)COL4A6  -  Xq22.3   chrX:107398837-107681660 -  Xq22.3   [Description]    (hg19-Feb_2009)
EnsemblCOL4A6 - Xq22.3 [CytoView]
Mapping of homologs : NCBICOL4A6 [Mapview]
OMIM300914   303631   
Gene and transcription
Genbank (Entrez)AK300502 AW082083 BC000874 BC005305 BC070203
RefSeq transcript (Entrez)NM_001287758 NM_001287759 NM_001287760 NM_001847 NM_033641
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_012059 NT_011651 NW_001842391 NW_004929444
Consensus coding sequences : CCDS (NCBI)COL4A6
Cluster EST : UnigeneHs.145586 [ NCBI ]
CGAP (NCI)Hs.145586
Alternative Splicing : Fast-db (Paris)GSHG0032265
Alternative Splicing GalleryENSG00000197565
Gene ExpressionCOL4A6 [ NCBI-GEO ]     COL4A6 [ SEEK ]   COL4A6 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14031 (Uniprot)
NextProtQ14031  [Medical]
With graphics : InterProQ14031
Splice isoforms : SwissVarQ14031 (Swissvar)
Domaine pattern : Prosite (Expaxy)NC1_IV (PS51403)   
Domains : Interpro (EBI)C-type_lectin_fold [organisation]   Collagen [organisation]   Collagen_VI_NC [organisation]  
Related proteins : CluSTrQ14031
Domain families : Pfam (Sanger)C4 (PF01413)    Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam01413    pfam01391   
Domain families : Smart (EMBL)C4 (SM00111)  
DMDM Disease mutations1288
Blocks (Seattle)Q14031
Human Protein AtlasENSG00000197565 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ14031
HPRD02364
IPIIPI00514030   IPI00472200   IPI00871740   IPI00910835   IPI01014952   IPI01013871   IPI00922220   IPI00478108   
Protein Interaction databases
DIP (DOE-UCLA)Q14031
IntAct (EBI)Q14031
FunCoupENSG00000197565
BioGRIDCOL4A6
InParanoidQ14031
Interologous Interaction database Q14031
IntegromeDBCOL4A6
STRING (EMBL)COL4A6
Ontologies - Pathways
Ontology : AmiGOextracellular matrix structural constituent  extracellular region  collagen type IV trimer  endoplasmic reticulum lumen  cell adhesion  extracellular matrix disassembly  extracellular matrix organization  collagen catabolic process  cellular response to amino acid stimulus  
Ontology : EGO-EBIextracellular matrix structural constituent  extracellular region  collagen type IV trimer  endoplasmic reticulum lumen  cell adhesion  extracellular matrix disassembly  extracellular matrix organization  collagen catabolic process  cellular response to amino acid stimulus  
Pathways : BIOCARTAAcute Myocardial Infarction [Genes]    Platelet Amyloid Precursor Protein Pathway [Genes]    Intrinsic Prothrombin Activation Pathway [Genes]    Regulators of Bone Mineralization [Genes]    Angiotensin-converting enzyme 2 regulates heart function [Genes]    Vitamin C in the Brain [Genes]   
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Protein digestion and absorption    Amoebiasis    Pathways in cancer    Small cell lung cancer   
Protein Interaction DatabaseCOL4A6
Wikipedia pathwaysCOL4A6
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)COL4A6
snp3D : Map Gene to Disease1288
SNP (GeneSNP Utah)COL4A6
SNP : HGBaseCOL4A6
Genetic variants : HAPMAPCOL4A6
Exome VariantCOL4A6
1000_GenomesCOL4A6 
ICGC programENSG00000197565 
Somatic Mutations in Cancer : COSMICCOL4A6 
CONAN: Copy Number AnalysisCOL4A6 
Mutations and Diseases : HGMDCOL4A6
Mutations and Diseases : intOGenCOL4A6
Genomic VariantsCOL4A6  COL4A6 [DGVbeta]
dbVarCOL4A6
ClinVarCOL4A6
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM300914    303631   
MedgenCOL4A6
GENETestsCOL4A6
Disease Genetic AssociationCOL4A6
Huge Navigator COL4A6 [HugePedia]  COL4A6 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCOL4A6
Homology/Alignments : Family Browser (UCSC)COL4A6
Phylogenetic Trees/Animal Genes : TreeFamCOL4A6
Chemical/Protein Interactions : CTD1288
Chemical/Pharm GKB GenePA26723
Clinical trialCOL4A6
Cancer Resource (Charite)ENSG00000197565
Other databases
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
CoreMineCOL4A6
iHOPCOL4A6
OncoSearchCOL4A6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 18:45:31 CEST 2014

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