Atlas of Genetics and Cytogenetics in Oncology and Haematology

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NHS (NHS actin remodeling regulator)

Identity

Alias (NCBI)CTRCT40
CXN
SCML1
HGNC (Hugo) NHS
HGNC Previous nameNance-Horan syndrome (congenital cataracts and dental anomalies)
LocusID (NCBI) 4810
Atlas_Id 57511
Location Xp22.2  [Link to chromosome band Xp22]
Location_base_pair Starts at 17375200 and ends at 17735993 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)
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    NHS actin remodeling regulator
AliasesCTRCT40; CXN; SCML1
GeneCards (Weizmann)NHS
Ensembl hg19 (Hinxton)ENSG00000188158 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000188158 [Gene_View]  ENSG00000188158 [Sequence]  chrX:17375200-17735993 [Contig_View]  NHS [Vega]
ICGC DataPortalENSG00000188158
TCGA cBioPortalNHS
AceView (NCBI)NHS
Genatlas (Paris)NHS
SOURCE (Princeton)NHS
Genetics Home Reference (NIH)NHS
Genomic and cartography
GoldenPath hg38 (UCSC)NHS  -     chrX:17375200-17735993 +  Xp22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NHS  -     Xp22.2   [Description]    (hg19-Feb_2009)
GoldenPathNHS - Xp22.2 [CytoView hg19]  NHS - Xp22.2 [CytoView hg38]
ImmunoBaseENSG00000188158
genome Data Viewer NCBINHS [Mapview hg19]  
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)
Consensus coding sequences : CCDS (NCBI)NHS
Alternative Splicing GalleryENSG00000188158
Gene ExpressionNHS [ NCBI-GEO ]   NHS [ EBI - ARRAY_EXPRESS ]   NHS [ SEEK ]   NHS [ MEM ]
Gene Expression Viewer (FireBrowse)NHS [ Firebrowse - Broad ]
GenevisibleExpression of NHS in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4810
GTEX Portal (Tissue expression)NHS
Human Protein AtlasENSG00000188158-NHS [pathology]   [cell]   [tissue]
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
Blocks (Seattle)NHS
SuperfamilyQ6T4R5
Human Protein Atlas [tissue]ENSG00000188158-NHS [tissue]
Peptide AtlasQ6T4R5
IPIIPI00375220   IPI00554497   IPI00953577   IPI00554525   
Protein Interaction databases
DIP (DOE-UCLA)Q6T4R5
IntAct (EBI)Q6T4R5
BioGRIDNHS
STRING (EMBL)NHS
ZODIACNHS
Ontologies - Pathways
QuickGOQ6T4R5
Ontology : AmiGOlens development in camera-type eye  Golgi apparatus  bicellular tight junction  focal adhesion  apical plasma membrane  nuclear body  lamellipodium  cell junction  cell differentiation  
Ontology : EGO-EBIlens development in camera-type eye  Golgi apparatus  bicellular tight junction  focal adhesion  apical plasma membrane  nuclear body  lamellipodium  cell junction  cell differentiation  
NDEx NetworkNHS
Atlas of Cancer Signalling NetworkNHS
Wikipedia pathwaysNHS
Orthology - Evolution
OrthoDB4810
GeneTree (enSembl)ENSG00000188158
Phylogenetic Trees/Animal Genes : TreeFamNHS
HOGENOMQ6T4R5
Homologs : HomoloGeneNHS
Homology/Alignments : Family Browser (UCSC)NHS
Gene fusions - Rearrangements
Fusion : QuiverNHS
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNHS [hg38]
dbVarNHS
ClinVarNHS
MonarchNHS
1000_GenomesNHS 
Exome Variant ServerNHS
GNOMAD BrowserENSG00000188158
Varsome BrowserNHS
Genomic Variants (DGV)NHS [DGVbeta]
DECIPHERNHS [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DNHS
Mutations and Diseases : HGMDNHS
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300457    302200    302350   
Orphanet
DisGeNETNHS
MedgenNHS
Genetic Testing Registry NHS
NextProtQ6T4R5 [Medical]
GENETestsNHS
Target ValidationNHS
Huge Navigator NHS [HugePedia]
ClinGenNHS
Clinical trials, drugs, therapy
MyCancerGenomeNHS
Protein Interactions : CTD
Pharm GKB GenePA31622
PharosQ6T4R5
Clinical trialNHS
Miscellaneous
canSAR (ICR)NHS (select the gene name)
HarmonizomeNHS
DataMed IndexNHS
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXNHS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jan 1 18:28:53 CET 2021
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