Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SCX (scleraxis bHLH transcription factor)

Identity

Alias (NCBI)SCXA
SCXB
bHLHa48
HGNC (Hugo) SCX
HGNC Alias symbbHLHa48
bHLHa41
HGNC Previous nameSCXA
 SCXB
HGNC Previous namescleraxis homolog A (mouse)
 scleraxis homolog B (mouse)
 scleraxis homolog (mouse)
 scleraxis basic helix-loop-helix transcription factor
LocusID (NCBI) 642658
Atlas_Id 54888
Location 8q24.3  [Link to chromosome band 8q24]
Location_base_pair Starts at 144266453 and ends at 144268480 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)

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)SCX   32322
Cards
Entrez_Gene (NCBI)SCX  642658  scleraxis bHLH transcription factor
AliasesSCXA; SCXB; bHLHa48
GeneCards (Weizmann)SCX
Ensembl hg19 (Hinxton)ENSG00000260428 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000260428 [Gene_View]  ENSG00000260428 [Sequence]  chr8:144266453-144268480 [Contig_View]  SCX [Vega]
ICGC DataPortalENSG00000260428
TCGA cBioPortalSCX
AceView (NCBI)SCX
Genatlas (Paris)SCX
WikiGenes642658
SOURCE (Princeton)SCX
Genetics Home Reference (NIH)SCX
Genomic and cartography
GoldenPath hg38 (UCSC)SCX  -     chr8:144266453-144268480 +  8q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SCX  -     8q24.3   [Description]    (hg19-Feb_2009)
GoldenPathSCX - 8q24.3 [CytoView hg19]  SCX - 8q24.3 [CytoView hg38]
ImmunoBaseENSG00000260428
genome Data Viewer NCBISCX [Mapview hg19]  
OMIM609067   
Gene and transcription
Genbank (Entrez)BG230566 CB048390 CD672767
RefSeq transcript (Entrez)NM_001008271 NM_001080514
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SCX
Alternative Splicing GalleryENSG00000260428
Gene ExpressionSCX [ NCBI-GEO ]   SCX [ EBI - ARRAY_EXPRESS ]   SCX [ SEEK ]   SCX [ MEM ]
Gene Expression Viewer (FireBrowse)SCX [ Firebrowse - Broad ]
GenevisibleExpression of SCX in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)642658
GTEX Portal (Tissue expression)SCX
Human Protein AtlasENSG00000260428-SCX [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7RTU7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7RTU7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7RTU7
Splice isoforms : SwissVarQ7RTU7
PhosPhoSitePlusQ7RTU7
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom    HLH_DNA-bd_sf   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)SCX
DMDM Disease mutations642658
Blocks (Seattle)SCX
SuperfamilyQ7RTU7
Human Protein Atlas [tissue]ENSG00000260428-SCX [tissue]
Peptide AtlasQ7RTU7
Protein Interaction databases
DIP (DOE-UCLA)Q7RTU7
IntAct (EBI)Q7RTU7
FunCoupENSG00000260428
BioGRIDSCX
STRING (EMBL)SCX
ZODIACSCX
Ontologies - Pathways
QuickGOQ7RTU7
Ontology : AmiGOnuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  mesoderm formation  tissue homeostasis  endochondral ossification  chondrocyte differentiation  heart valve morphogenesis  heart valve formation  DNA binding  nucleus  nucleus  transcription factor complex  transcription, DNA-templated  transcription, DNA-templated  regulation of transcription by RNA polymerase II  positive regulation of cell proliferation  positive regulation of gene expression  cell differentiation  collagen fibril organization  BMP signaling pathway  developmental process  positive regulation of collagen biosynthetic process  skeletal muscle cell differentiation  tendon development  tendon cell differentiation  tendon formation  deltoid tuberosity development  negative regulation of apoptotic process  bHLH transcription factor binding  sequence-specific DNA binding  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  protein dimerization activity  embryonic skeletal system development  Sertoli cell differentiation  face morphogenesis  regulation of cartilage development  positive regulation of cartilage development  sclerotome development  E-box binding  cellular response to mechanical stimulus  cellular response to transforming growth factor beta stimulus  positive regulation of gastrulation  
Ontology : EGO-EBInuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  mesoderm formation  tissue homeostasis  endochondral ossification  chondrocyte differentiation  heart valve morphogenesis  heart valve formation  DNA binding  nucleus  nucleus  transcription factor complex  transcription, DNA-templated  transcription, DNA-templated  regulation of transcription by RNA polymerase II  positive regulation of cell proliferation  positive regulation of gene expression  cell differentiation  collagen fibril organization  BMP signaling pathway  developmental process  positive regulation of collagen biosynthetic process  skeletal muscle cell differentiation  tendon development  tendon cell differentiation  tendon formation  deltoid tuberosity development  negative regulation of apoptotic process  bHLH transcription factor binding  sequence-specific DNA binding  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  protein dimerization activity  embryonic skeletal system development  Sertoli cell differentiation  face morphogenesis  regulation of cartilage development  positive regulation of cartilage development  sclerotome development  E-box binding  cellular response to mechanical stimulus  cellular response to transforming growth factor beta stimulus  positive regulation of gastrulation  
NDEx NetworkSCX
Atlas of Cancer Signalling NetworkSCX
Wikipedia pathwaysSCX
Orthology - Evolution
OrthoDB642658
GeneTree (enSembl)ENSG00000260428
Phylogenetic Trees/Animal Genes : TreeFamSCX
HOGENOMQ7RTU7
Homologs : HomoloGeneSCX
Homology/Alignments : Family Browser (UCSC)SCX
Gene fusions - Rearrangements
Fusion : QuiverSCX
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSCX [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SCX
dbVarSCX
ClinVarSCX
MonarchSCX
1000_GenomesSCX 
Exome Variant ServerSCX
GNOMAD BrowserENSG00000260428
Varsome BrowserSCX
Genetic variants : HAPMAP642658
Genomic Variants (DGV)SCX [DGVbeta]
DECIPHERSCX [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSCX 
Mutations
ICGC Data PortalSCX 
TCGA Data PortalSCX 
Broad Tumor PortalSCX
OASIS PortalSCX [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSCX  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSCX
Mutations and Diseases : HGMDSCX
BioMutasearch SCX
DgiDB (Drug Gene Interaction Database)SCX
DoCM (Curated mutations)SCX (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SCX (select a term)
intoGenSCX
Cancer3DSCX(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609067   
Orphanet
DisGeNETSCX
MedgenSCX
Genetic Testing Registry SCX
NextProtQ7RTU7 [Medical]
TSGene642658
GENETestsSCX
Target ValidationSCX
Huge Navigator SCX [HugePedia]
snp3D : Map Gene to Disease642658
BioCentury BCIQSCX
ClinGenSCX
Clinical trials, drugs, therapy
Protein Interactions : CTD642658
Pharm GKB GenePA142670943
Clinical trialSCX
Miscellaneous
canSAR (ICR)SCX (select the gene name)
HarmonizomeSCX
DataMed IndexSCX
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSCX
EVEXSCX
GoPubMedSCX
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 : Mon Sep 14 14:31:38 CEST 2020

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