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SIM1 (SIM bHLH transcription factor 1)

Identity

Alias_namessingle-minded (Drosophila) homolog 1
single-minded homolog 1 (Drosophila)
Alias_symbol (synonym)bHLHe14
Other alias
HGNC (Hugo) SIM1
LocusID (NCBI) 6492
Atlas_Id 53285
Location 6q16.3  [Link to chromosome band 6q16]
Location_base_pair Starts at 100388874 and ends at 100463675 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)
BRK1 (3p25.3) / SIM1 (6q16.3)SIM1 (6q16.3) / ASCC3 (6q16.3)SIM1 6q16.3 / ASCC3 6q16.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  SIM1/ASCC3 (6q16)


External links

Nomenclature
HGNC (Hugo)SIM1   10882
Cards
Entrez_Gene (NCBI)SIM1  6492  SIM bHLH transcription factor 1
AliasesbHLHe14
GeneCards (Weizmann)SIM1
Ensembl hg19 (Hinxton)ENSG00000112246 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112246 [Gene_View]  ENSG00000112246 [Sequence]  chr6:100388874-100463675 [Contig_View]  SIM1 [Vega]
ICGC DataPortalENSG00000112246
TCGA cBioPortalSIM1
AceView (NCBI)SIM1
Genatlas (Paris)SIM1
WikiGenes6492
SOURCE (Princeton)SIM1
Genetics Home Reference (NIH)SIM1
Genomic and cartography
GoldenPath hg38 (UCSC)SIM1  -     chr6:100388874-100463675 -  6q16.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SIM1  -     6q16.3   [Description]    (hg19-Feb_2009)
EnsemblSIM1 - 6q16.3 [CytoView hg19]  SIM1 - 6q16.3 [CytoView hg38]
Mapping of homologs : NCBISIM1 [Mapview hg19]  SIM1 [Mapview hg38]
OMIM601665   603128   
Gene and transcription
Genbank (Entrez)AK308090 AK309566 U70212
RefSeq transcript (Entrez)NM_005068
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SIM1
Cluster EST : UnigeneHs.735754 [ NCBI ]
CGAP (NCI)Hs.735754
Alternative Splicing GalleryENSG00000112246
Gene ExpressionSIM1 [ NCBI-GEO ]   SIM1 [ EBI - ARRAY_EXPRESS ]   SIM1 [ SEEK ]   SIM1 [ MEM ]
Gene Expression Viewer (FireBrowse)SIM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6492
GTEX Portal (Tissue expression)SIM1
Human Protein AtlasENSG00000112246-SIM1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP81133   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP81133  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP81133
Splice isoforms : SwissVarP81133
PhosPhoSitePlusP81133
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)    PAS (PS50112)    SIM_C (PS51302)   
Domains : Interpro (EBI)bHLH_dom    HLH_DNA-bd_sf    PAC    PAS    PAS-like_dom_sf    PAS_fold    PAS_fold_3    SIM_C   
Domain families : Pfam (Sanger)HLH (PF00010)    PAS (PF00989)    PAS_3 (PF08447)    SIM_C (PF06621)   
Domain families : Pfam (NCBI)pfam00010    pfam00989    pfam08447    pfam06621   
Domain families : Smart (EMBL)HLH (SM00353)  PAC (SM00086)  PAS (SM00091)  
Conserved Domain (NCBI)SIM1
DMDM Disease mutations6492
Blocks (Seattle)SIM1
SuperfamilyP81133
Human Protein Atlas [tissue]ENSG00000112246-SIM1 [tissue]
Peptide AtlasP81133
HPRD07049
IPIIPI00292234   
Protein Interaction databases
DIP (DOE-UCLA)P81133
IntAct (EBI)P81133
FunCoupENSG00000112246
BioGRIDSIM1
STRING (EMBL)SIM1
ZODIACSIM1
Ontologies - Pathways
QuickGOP81133
Ontology : AmiGODNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  ureteric bud development  DNA binding  DNA-binding transcription factor activity  nucleus  regulation of transcription by RNA polymerase II  nervous system development  cell differentiation  protein heterodimerization activity  
Ontology : EGO-EBIDNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  ureteric bud development  DNA binding  DNA-binding transcription factor activity  nucleus  regulation of transcription by RNA polymerase II  nervous system development  cell differentiation  protein heterodimerization activity  
NDEx NetworkSIM1
Atlas of Cancer Signalling NetworkSIM1
Wikipedia pathwaysSIM1
Orthology - Evolution
OrthoDB6492
GeneTree (enSembl)ENSG00000112246
Phylogenetic Trees/Animal Genes : TreeFamSIM1
HOVERGENP81133
HOGENOMP81133
Homologs : HomoloGeneSIM1
Homology/Alignments : Family Browser (UCSC)SIM1
Gene fusions - Rearrangements
Fusion : MitelmanSIM1/ASCC3 [6q16.3/6q16.3]  
Fusion PortalSIM1 6q16.3 ASCC3 6q16.3 LUAD
Fusion : QuiverSIM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSIM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SIM1
dbVarSIM1
ClinVarSIM1
1000_GenomesSIM1 
Exome Variant ServerSIM1
ExAC (Exome Aggregation Consortium)ENSG00000112246
GNOMAD BrowserENSG00000112246
Varsome BrowserSIM1
Genetic variants : HAPMAP6492
Genomic Variants (DGV)SIM1 [DGVbeta]
DECIPHERSIM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSIM1 
Mutations
ICGC Data PortalSIM1 
TCGA Data PortalSIM1 
Broad Tumor PortalSIM1
OASIS PortalSIM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSIM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSIM1
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
BioMutasearch SIM1
DgiDB (Drug Gene Interaction Database)SIM1
DoCM (Curated mutations)SIM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SIM1 (select a term)
intoGenSIM1
Cancer3DSIM1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601665    603128   
Orphanet17936    22440    22722   
DisGeNETSIM1
MedgenSIM1
Genetic Testing Registry SIM1
NextProtP81133 [Medical]
TSGene6492
GENETestsSIM1
Target ValidationSIM1
Huge Navigator SIM1 [HugePedia]
snp3D : Map Gene to Disease6492
BioCentury BCIQSIM1
ClinGenSIM1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6492
Chemical/Pharm GKB GenePA35782
Clinical trialSIM1
Miscellaneous
canSAR (ICR)SIM1 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSIM1
EVEXSIM1
GoPubMedSIM1
iHOPSIM1
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 : Tue Nov 6 11:39:06 CET 2018

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