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NHS (Nance-Horan syndrome (congenital cataracts and dental anomalies))

Identity

Alias_namesNance-Horan syndrome (congenital cataracts and dental anomalies)
Other aliasCTRCT40
CXN
SCML1
HGNC (Hugo) NHS
LocusID (NCBI) 4810
Atlas_Id 70827
Location Xp22.13  [Link to chromosome band Xp22]
Location_base_pair Starts at 17653413 and ends at 17754113 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NHS (Xp22.13) / MYL6 (12q13.2)

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)NHS   7820
Cards
Entrez_Gene (NCBI)NHS  4810  Nance-Horan syndrome (congenital cataracts and dental anomalies)
AliasesCTRCT40; CXN; SCML1
GeneCards (Weizmann)NHS
Ensembl hg19 (Hinxton)ENSG00000188158 [Gene_View]  chrX:17653413-17754113 [Contig_View]  NHS [Vega]
Ensembl hg38 (Hinxton)ENSG00000188158 [Gene_View]  chrX:17653413-17754113 [Contig_View]  NHS [Vega]
ICGC DataPortalENSG00000188158
TCGA cBioPortalNHS
AceView (NCBI)NHS
Genatlas (Paris)NHS
WikiGenes4810
SOURCE (Princeton)NHS
Genetics Home Reference (NIH)NHS
Genomic and cartography
GoldenPath hg19 (UCSC)NHS  -     chrX:17653413-17754113 +  Xp22.13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NHS  -     Xp22.13   [Description]    (hg38-Dec_2013)
EnsemblNHS - Xp22.13 [CytoView hg19]  NHS - Xp22.13 [CytoView hg38]
Mapping of homologs : NCBINHS [Mapview hg19]  NHS [Mapview hg38]
OMIM300457   302200   302350   
Gene and transcription
Genbank (Entrez)AK302437 AY436752 AY456992 AY456993 BC136415
RefSeq transcript (Entrez)NM_001136024 NM_001291867 NM_001291868 NM_198270
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_011553 NT_167197 NW_004929438
Consensus coding sequences : CCDS (NCBI)NHS
Cluster EST : UnigeneHs.201623 [ NCBI ]
CGAP (NCI)Hs.201623
Alternative Splicing GalleryENSG00000188158
Gene ExpressionNHS [ NCBI-GEO ]   NHS [ EBI - ARRAY_EXPRESS ]   NHS [ SEEK ]   NHS [ MEM ]
Gene Expression Viewer (FireBrowse)NHS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4810
GTEX Portal (Tissue expression)NHS
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6T4R5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6T4R5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6T4R5
Splice isoforms : SwissVarQ6T4R5
PhosPhoSitePlusQ6T4R5
Domains : Interpro (EBI)NHS_fam   
Domain families : Pfam (Sanger)NHS (PF15273)   
Domain families : Pfam (NCBI)pfam15273   
Conserved Domain (NCBI)NHS
DMDM Disease mutations4810
Blocks (Seattle)NHS
SuperfamilyQ6T4R5
Human Protein AtlasENSG00000188158
Peptide AtlasQ6T4R5
HPRD02351
IPIIPI00375220   IPI00554497   IPI00953577   IPI00554525   
Protein Interaction databases
DIP (DOE-UCLA)Q6T4R5
IntAct (EBI)Q6T4R5
FunCoupENSG00000188158
BioGRIDNHS
STRING (EMBL)NHS
ZODIACNHS
Ontologies - Pathways
QuickGOQ6T4R5
Ontology : AmiGOlens development in camera-type eye  cytoplasm  bicellular tight junction  focal adhesion  apical plasma membrane  lamellipodium  cell differentiation  
Ontology : EGO-EBIlens development in camera-type eye  cytoplasm  bicellular tight junction  focal adhesion  apical plasma membrane  lamellipodium  cell differentiation  
NDEx NetworkNHS
Atlas of Cancer Signalling NetworkNHS
Wikipedia pathwaysNHS
Orthology - Evolution
OrthoDB4810
GeneTree (enSembl)ENSG00000188158
Phylogenetic Trees/Animal Genes : TreeFamNHS
HOVERGENQ6T4R5
HOGENOMQ6T4R5
Homologs : HomoloGeneNHS
Homology/Alignments : Family Browser (UCSC)NHS
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNHS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NHS
dbVarNHS
ClinVarNHS
1000_GenomesNHS 
Exome Variant ServerNHS
ExAC (Exome Aggregation Consortium)NHS (select the gene name)
Genetic variants : HAPMAP4810
Genomic Variants (DGV)NHS [DGVbeta]
DECIPHER (Syndromes)X:17653413-17754113  ENSG00000188158
CONAN: Copy Number AnalysisNHS 
Mutations
ICGC Data PortalNHS 
TCGA Data PortalNHS 
Broad Tumor PortalNHS
OASIS PortalNHS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNHS  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNHS
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)X-chromosome gene database
BioMutasearch NHS
DgiDB (Drug Gene Interaction Database)NHS
DoCM (Curated mutations)NHS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NHS (select a term)
intoGenNHS
Cancer3DNHS(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300457    302200    302350   
Orphanet931    14008    14011   
MedgenNHS
Genetic Testing Registry NHS
NextProtQ6T4R5 [Medical]
TSGene4810
GENETestsNHS
Huge Navigator NHS [HugePedia]
snp3D : Map Gene to Disease4810
BioCentury BCIQNHS
ClinGenNHS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4810
Chemical/Pharm GKB GenePA31622
Clinical trialNHS
Miscellaneous
canSAR (ICR)NHS (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNHS
EVEXNHS
GoPubMedNHS
iHOPNHS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:34:55 CET 2017

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