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VSX1 (visual system homeobox 1)

Identity

Alias_namesPPCD
posterior polymorphous corneal dystrophy
visual system homeobox 1 homolog, CHX10-like (zebrafish)
Alias_symbol (synonym)PPD
PPCD1
Other aliasCAASDS
KTCN
KTCN1
RINX
HGNC (Hugo) VSX1
LocusID (NCBI) 30813
Atlas_Id 75655
Location 20p11.21  [Link to chromosome band 20p11]
Location_base_pair Starts at 25070886 and ends at 25082379 bp from pter ( according to hg38-Dec_2013)

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)VSX1   12723
Cards
Entrez_Gene (NCBI)VSX1  30813  visual system homeobox 1
AliasesCAASDS; KTCN; KTCN1; PPCD; 
PPCD1; PPD; RINX
GeneCards (Weizmann)VSX1
Ensembl hg19 (Hinxton)ENSG00000100987 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100987 [Gene_View]  chr20:25070886-25082379 [Contig_View]  VSX1 [Vega]
ICGC DataPortalENSG00000100987
TCGA cBioPortalVSX1
AceView (NCBI)VSX1
Genatlas (Paris)VSX1
WikiGenes30813
SOURCE (Princeton)VSX1
Genetics Home Reference (NIH)VSX1
Genomic and cartography
GoldenPath hg38 (UCSC)VSX1  -     chr20:25070886-25082379 -  20p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)VSX1  -     20p11.21   [Description]    (hg19-Feb_2009)
EnsemblVSX1 - 20p11.21 [CytoView hg19]  VSX1 - 20p11.21 [CytoView hg38]
Mapping of homologs : NCBIVSX1 [Mapview hg19]  VSX1 [Mapview hg38]
OMIM122000   148300   605020   614195   
Gene and transcription
Genbank (Entrez)AF176797 AF251033 AF251034 BC126228 BC136497
RefSeq transcript (Entrez)NM_001256271 NM_001256272 NM_014588 NM_199425
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)VSX1
Cluster EST : UnigeneHs.274264 [ NCBI ]
CGAP (NCI)Hs.274264
Alternative Splicing GalleryENSG00000100987
Gene ExpressionVSX1 [ NCBI-GEO ]   VSX1 [ EBI - ARRAY_EXPRESS ]   VSX1 [ SEEK ]   VSX1 [ MEM ]
Gene Expression Viewer (FireBrowse)VSX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)30813
GTEX Portal (Tissue expression)VSX1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZR4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NZR4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NZR4
Splice isoforms : SwissVarQ9NZR4
PhosPhoSitePlusQ9NZR4
Domaine pattern : Prosite (Expaxy)CVC (PS51496)    HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)CVC    Homeobox-like    Homeobox_CS    Homeobox_dom   
Domain families : Pfam (Sanger)Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)VSX1
DMDM Disease mutations30813
Blocks (Seattle)VSX1
SuperfamilyQ9NZR4
Human Protein AtlasENSG00000100987
Peptide AtlasQ9NZR4
HPRD09232
IPIIPI00165074   IPI00215633   IPI00215634   IPI00943354   IPI00915914   IPI00215635   IPI00886819   IPI00909178   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZR4
IntAct (EBI)Q9NZR4
FunCoupENSG00000100987
BioGRIDVSX1
STRING (EMBL)VSX1
ZODIACVSX1
Ontologies - Pathways
QuickGOQ9NZR4
Ontology : AmiGOchromatin binding  transcription factor activity, sequence-specific DNA binding  cellular_component  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  visual perception  neuron maturation  sequence-specific DNA binding  transcription regulatory region DNA binding  neuron development  response to stimulus  retinal bipolar neuron differentiation  
Ontology : EGO-EBIchromatin binding  transcription factor activity, sequence-specific DNA binding  cellular_component  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  visual perception  neuron maturation  sequence-specific DNA binding  transcription regulatory region DNA binding  neuron development  response to stimulus  retinal bipolar neuron differentiation  
NDEx NetworkVSX1
Atlas of Cancer Signalling NetworkVSX1
Wikipedia pathwaysVSX1
Orthology - Evolution
OrthoDB30813
GeneTree (enSembl)ENSG00000100987
Phylogenetic Trees/Animal Genes : TreeFamVSX1
HOVERGENQ9NZR4
HOGENOMQ9NZR4
Homologs : HomoloGeneVSX1
Homology/Alignments : Family Browser (UCSC)VSX1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVSX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VSX1
dbVarVSX1
ClinVarVSX1
1000_GenomesVSX1 
Exome Variant ServerVSX1
ExAC (Exome Aggregation Consortium)VSX1 (select the gene name)
Genetic variants : HAPMAP30813
Genomic Variants (DGV)VSX1 [DGVbeta]
DECIPHERVSX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisVSX1 
Mutations
ICGC Data PortalVSX1 
TCGA Data PortalVSX1 
Broad Tumor PortalVSX1
OASIS PortalVSX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVSX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDVSX1
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch VSX1
DgiDB (Drug Gene Interaction Database)VSX1
DoCM (Curated mutations)VSX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VSX1 (select a term)
intoGenVSX1
Cancer3DVSX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM122000    148300    605020    614195   
Orphanet13990   
MedgenVSX1
Genetic Testing Registry VSX1
NextProtQ9NZR4 [Medical]
TSGene30813
GENETestsVSX1
Target ValidationVSX1
Huge Navigator VSX1 [HugePedia]
snp3D : Map Gene to Disease30813
BioCentury BCIQVSX1
ClinGenVSX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD30813
Chemical/Pharm GKB GenePA37334
Clinical trialVSX1
Miscellaneous
canSAR (ICR)VSX1 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVSX1
EVEXVSX1
GoPubMedVSX1
iHOPVSX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:48:44 CEST 2017

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