Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SALL1 (spalt like transcription factor 1)

Identity

Alias_namesTBS
sal (Drosophila)-like 1
sal-like 1 (Drosophila)
Alias_symbol (synonym)Hsal1
ZNF794
Other aliasHEL-S-89
HSAL1
Sal-1
HGNC (Hugo) SALL1
LocusID (NCBI) 6299
Atlas_Id 72960
Location 16q12.1  [Link to chromosome band 16q12]
Location_base_pair Starts at 51135975 and ends at 51150597 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)SALL1   10524
LRG (Locus Reference Genomic)LRG_674
Cards
Entrez_Gene (NCBI)SALL1  6299  spalt like transcription factor 1
AliasesHEL-S-89; HSAL1; Sal-1; TBS; 
ZNF794
GeneCards (Weizmann)SALL1
Ensembl hg19 (Hinxton)ENSG00000103449 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000103449 [Gene_View]  chr16:51135975-51150597 [Contig_View]  SALL1 [Vega]
ICGC DataPortalENSG00000103449
TCGA cBioPortalSALL1
AceView (NCBI)SALL1
Genatlas (Paris)SALL1
WikiGenes6299
SOURCE (Princeton)SALL1
Genetics Home Reference (NIH)SALL1
Genomic and cartography
GoldenPath hg38 (UCSC)SALL1  -     chr16:51135975-51150597 -  16q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SALL1  -     16q12.1   [Description]    (hg19-Feb_2009)
EnsemblSALL1 - 16q12.1 [CytoView hg19]  SALL1 - 16q12.1 [CytoView hg38]
Mapping of homologs : NCBISALL1 [Mapview hg19]  SALL1 [Mapview hg38]
OMIM107480   602218   
Gene and transcription
Genbank (Entrez)AK295103 AK307835 BC113881 BC113906 BC131548
RefSeq transcript (Entrez)NM_001127892 NM_002968
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SALL1
Cluster EST : UnigeneHs.135787 [ NCBI ]
CGAP (NCI)Hs.135787
Alternative Splicing GalleryENSG00000103449
Gene ExpressionSALL1 [ NCBI-GEO ]   SALL1 [ EBI - ARRAY_EXPRESS ]   SALL1 [ SEEK ]   SALL1 [ MEM ]
Gene Expression Viewer (FireBrowse)SALL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6299
GTEX Portal (Tissue expression)SALL1
Human Protein AtlasENSG00000103449-SALL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NSC2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NSC2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NSC2
Splice isoforms : SwissVarQ9NSC2
PhosPhoSitePlusQ9NSC2
Domaine pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)Znf_C2H2    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd   
Domain families : Pfam (Sanger)zf-C2H2 (PF00096)   
Domain families : Pfam (NCBI)pfam00096   
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)SALL1
DMDM Disease mutations6299
Blocks (Seattle)SALL1
SuperfamilyQ9NSC2
Human Protein Atlas [tissue]ENSG00000103449-SALL1 [tissue]
Peptide AtlasQ9NSC2
HPRD03742
IPIIPI00004167   IPI00895947   IPI00942058   IPI01014161   
Protein Interaction databases
DIP (DOE-UCLA)Q9NSC2
IntAct (EBI)Q9NSC2
FunCoupENSG00000103449
BioGRIDSALL1
STRING (EMBL)SALL1
ZODIACSALL1
Ontologies - Pathways
QuickGOQ9NSC2
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  heterochromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  ureteric bud development  branching involved in ureteric bud morphogenesis  kidney development  ventricular septum development  mesenchymal to epithelial transition involved in metanephros morphogenesis  DNA binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, sequence-specific DNA binding  histone deacetylase activity  protein binding  nucleus  nucleoplasm  cytoplasm  transcription, DNA-templated  heart development  beta-catenin binding  gonad development  chromocenter  histone deacetylation  NuRD complex  olfactory nerve development  olfactory bulb interneuron differentiation  pituitary gland development  neurogenesis  positive regulation of Wnt signaling pathway  adrenal gland development  inductive cell-cell signaling  somatic stem cell population maintenance  outer ear morphogenesis  embryonic digit morphogenesis  sequence-specific DNA binding  transcription regulatory region DNA binding  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  embryonic digestive tract development  limb development  olfactory bulb mitral cell layer development  kidney epithelium development  ureteric bud invasion  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  heterochromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  ureteric bud development  branching involved in ureteric bud morphogenesis  kidney development  ventricular septum development  mesenchymal to epithelial transition involved in metanephros morphogenesis  DNA binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, sequence-specific DNA binding  histone deacetylase activity  protein binding  nucleus  nucleoplasm  cytoplasm  transcription, DNA-templated  heart development  beta-catenin binding  gonad development  chromocenter  histone deacetylation  NuRD complex  olfactory nerve development  olfactory bulb interneuron differentiation  pituitary gland development  neurogenesis  positive regulation of Wnt signaling pathway  adrenal gland development  inductive cell-cell signaling  somatic stem cell population maintenance  outer ear morphogenesis  embryonic digit morphogenesis  sequence-specific DNA binding  transcription regulatory region DNA binding  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  embryonic digestive tract development  limb development  olfactory bulb mitral cell layer development  kidney epithelium development  ureteric bud invasion  
NDEx NetworkSALL1
Atlas of Cancer Signalling NetworkSALL1
Wikipedia pathwaysSALL1
Orthology - Evolution
OrthoDB6299
GeneTree (enSembl)ENSG00000103449
Phylogenetic Trees/Animal Genes : TreeFamSALL1
HOVERGENQ9NSC2
HOGENOMQ9NSC2
Homologs : HomoloGeneSALL1
Homology/Alignments : Family Browser (UCSC)SALL1
Gene fusions - Rearrangements
Tumor Fusion PortalSALL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSALL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SALL1
dbVarSALL1
ClinVarSALL1
1000_GenomesSALL1 
Exome Variant ServerSALL1
ExAC (Exome Aggregation Consortium)ENSG00000103449
GNOMAD BrowserENSG00000103449
Genetic variants : HAPMAP6299
Genomic Variants (DGV)SALL1 [DGVbeta]
DECIPHERSALL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSALL1 
Mutations
ICGC Data PortalSALL1 
TCGA Data PortalSALL1 
Broad Tumor PortalSALL1
OASIS PortalSALL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSALL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSALL1
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 SALL1
DgiDB (Drug Gene Interaction Database)SALL1
DoCM (Curated mutations)SALL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SALL1 (select a term)
intoGenSALL1
Cancer3DSALL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM107480    602218   
Orphanet218   
DisGeNETSALL1
MedgenSALL1
Genetic Testing Registry SALL1
NextProtQ9NSC2 [Medical]
TSGene6299
GENETestsSALL1
Target ValidationSALL1
Huge Navigator SALL1 [HugePedia]
snp3D : Map Gene to Disease6299
BioCentury BCIQSALL1
ClinGenSALL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6299
Chemical/Pharm GKB GenePA34932
Clinical trialSALL1
Miscellaneous
canSAR (ICR)SALL1 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSALL1
EVEXSALL1
GoPubMedSALL1
iHOPSALL1
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 21 13:34:16 CET 2017

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