Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SIAE (sialic acid acetylesterase)

Identity

Alias (NCBI)AIS6
CSE-C
CSEC
LSE
YSG2
HGNC (Hugo) SIAE
HGNC Alias symbCSE-C
MGC87009
LSE
HGNC Alias namesialic acid-specific acetylesterase II
HGNC Previous nameYSG2
HGNC Previous nameYsg2 homolog (mouse)
LocusID (NCBI) 54414
Atlas_Id 52673
Location 11q24.2  [Link to chromosome band 11q24]
Location_base_pair Starts at 124633113 and ends at 124673739 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)
ALB (4q13.3) / SIAE (11q24.2)C3 (19p13.3) / SIAE (11q24.2)CKM (19q13.32) / SIAE (11q24.2)
DDX24 (14q32.12) / SIAE (11q24.2)DHCR24 (1p32.3) / SIAE (11q24.2)DYNC1H1 (14q32.31) / SIAE (11q24.2)
FARP1 (13q32.2) / SIAE (11q24.2)GAGE10 (Xp11.23) / SIAE (11q24.2)GDA (9q21.13) / SIAE (11q24.2)
HNRNPA2B1 (7p15.2) / SIAE (11q24.2)HSPG2 (1p36.12) / SIAE (11q24.2)IGFBP5 (2q35) / SIAE (11q24.2)
MUC1 (1q22) / SIAE (11q24.2)MYLK (3q21.1) / SIAE (11q24.2)PDIA4 (7q36.1) / SIAE (11q24.2)
REV1 (2q11.2) / SIAE (11q24.2)SIAE (11q24.2) / SIAE (11q24.2)SLC25A3 (12q23.1) / SIAE (11q24.2)
TPT1 (13q14.13) / SIAE (11q24.2)VIM (10p13) / SIAE (11q24.2)ALB 4q13.3 / SIAE 11q24.2
C3 19p13.3 / SIAE 11q24.2CKM 19q13.32 / SIAE 11q24.2DHCR24 1p32.3 / SIAE 11q24.2
DYNC1H1 14q32.31 / SIAE 11q24.2FARP1 13q32.2 / SIAE 11q24.2GDA 9q21.13 / SIAE 11q24.2
HNRNPA2B1 7p15.2 / SIAE 11q24.2HSPG2 1p36.12 / SIAE 11q24.2IGFBP5 2q35 / SIAE 11q24.2
MUC1 1q22 / SIAE 11q24.2MYLK 3q21.1 / SIAE 11q24.2PDIA4 7q36.1 / SIAE 11q24.2
SLC25A3 12q23.1 / SIAE 11q24.2TPT1 13q14.13 / SIAE 11q24.2VIM 10p13 / SIAE 11q24.2

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 16 ]
  t(1;11)(p32;q24) DHCR24/SIAE
t(1;11)(p36;q24) HSPG2/SIAE
t(1;11)(q22;q24) MUC1/SIAE
t(2;11)(q35;q24) IGFBP5/SIAE
t(3;11)(q21;q24) MYLK/SIAE
t(4;11)(q13;q24) ALB/SIAE
t(7;11)(p15;q24) HNRNPA2B1/SIAE
t(7;11)(q36;q24) PDIA4/SIAE
t(9;11)(q21;q24) GDA/SIAE
t(10;11)(p13;q24) VIM/SIAE
t(11;12)(q24;q23) SLC25A3/SIAE
t(11;13)(q24;q14) TPT1/SIAE
t(11;13)(q24;q32) FARP1/SIAE
t(11;14)(q24;q32) DYNC1H1/SIAE
t(11;19)(q24;p13) C3/SIAE
t(11;19)(q24;q13) CKM/SIAE

External links

Nomenclature
HGNC (Hugo)SIAE   18187
Cards
Entrez_Gene (NCBI)SIAE  54414  sialic acid acetylesterase
AliasesAIS6; CSE-C; CSEC; LSE; 
YSG2
GeneCards (Weizmann)SIAE
Ensembl hg19 (Hinxton)ENSG00000110013 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110013 [Gene_View]  ENSG00000110013 [Sequence]  chr11:124633113-124673739 [Contig_View]  SIAE [Vega]
ICGC DataPortalENSG00000110013
TCGA cBioPortalSIAE
AceView (NCBI)SIAE
Genatlas (Paris)SIAE
WikiGenes54414
SOURCE (Princeton)SIAE
Genetics Home Reference (NIH)SIAE
Genomic and cartography
GoldenPath hg38 (UCSC)SIAE  -     chr11:124633113-124673739 -  11q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SIAE  -     11q24.2   [Description]    (hg19-Feb_2009)
GoldenPathSIAE - 11q24.2 [CytoView hg19]  SIAE - 11q24.2 [CytoView hg38]
ImmunoBaseENSG00000110013
genome Data Viewer NCBISIAE [Mapview hg19]  
OMIM610079   613551   
Gene and transcription
Genbank (Entrez)AA938533 AF300796 AF303378 AK056093 AK092224
RefSeq transcript (Entrez)NM_001199922 NM_018978 NM_170601
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SIAE
Alternative Splicing GalleryENSG00000110013
Gene ExpressionSIAE [ NCBI-GEO ]   SIAE [ EBI - ARRAY_EXPRESS ]   SIAE [ SEEK ]   SIAE [ MEM ]
Gene Expression Viewer (FireBrowse)SIAE [ Firebrowse - Broad ]
GenevisibleExpression of SIAE in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54414
GTEX Portal (Tissue expression)SIAE
Human Protein AtlasENSG00000110013-SIAE [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HAT2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HAT2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HAT2
Splice isoforms : SwissVarQ9HAT2
Catalytic activity : Enzyme3.1.1.53 [ Enzyme-Expasy ]   3.1.1.533.1.1.53 [ IntEnz-EBI ]   3.1.1.53 [ BRENDA ]   3.1.1.53 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ9HAT2
Domains : Interpro (EBI)SASA    SGNH_hydro_sf    SIAE   
Domain families : Pfam (Sanger)SASA (PF03629)   
Domain families : Pfam (NCBI)pfam03629   
Conserved Domain (NCBI)SIAE
DMDM Disease mutations54414
Blocks (Seattle)SIAE
SuperfamilyQ9HAT2
Human Protein Atlas [tissue]ENSG00000110013-SIAE [tissue]
Peptide AtlasQ9HAT2
HPRD16764
IPIIPI00010949   IPI00759728   
Protein Interaction databases
DIP (DOE-UCLA)Q9HAT2
IntAct (EBI)Q9HAT2
FunCoupENSG00000110013
BioGRIDSIAE
STRING (EMBL)SIAE
ZODIACSIAE
Ontologies - Pathways
QuickGOQ9HAT2
Ontology : AmiGOsialate O-acetylesterase activity  regulation of immune system process  extracellular space  lysosome  carbohydrate metabolic process  extracellular exosome  
Ontology : EGO-EBIsialate O-acetylesterase activity  regulation of immune system process  extracellular space  lysosome  carbohydrate metabolic process  extracellular exosome  
NDEx NetworkSIAE
Atlas of Cancer Signalling NetworkSIAE
Wikipedia pathwaysSIAE
Orthology - Evolution
OrthoDB54414
GeneTree (enSembl)ENSG00000110013
Phylogenetic Trees/Animal Genes : TreeFamSIAE
HOGENOMQ9HAT2
Homologs : HomoloGeneSIAE
Homology/Alignments : Family Browser (UCSC)SIAE
Gene fusions - Rearrangements
Fusion : MitelmanALB/SIAE [4q13.3/11q24.2]  
Fusion : MitelmanC3/SIAE [19p13.3/11q24.2]  
Fusion : MitelmanCKM/SIAE [19q13.32/11q24.2]  
Fusion : MitelmanDHCR24/SIAE [1p32.3/11q24.2]  
Fusion : MitelmanDYNC1H1/SIAE [14q32.31/11q24.2]  
Fusion : MitelmanFARP1/SIAE [13q32.2/11q24.2]  
Fusion : MitelmanGDA/SIAE [9q21.13/11q24.2]  
Fusion : MitelmanHNRNPA2B1/SIAE [7p15.2/11q24.2]  
Fusion : MitelmanHSPG2/SIAE [1p36.12/11q24.2]  
Fusion : MitelmanIGFBP5/SIAE [2q35/11q24.2]  
Fusion : MitelmanMUC1/SIAE [1q22/11q24.2]  
Fusion : MitelmanMYLK/SIAE [3q21.1/11q24.2]  
Fusion : MitelmanPDIA4/SIAE [7q36.1/11q24.2]  
Fusion : MitelmanSLC25A3/SIAE [12q23.1/11q24.2]  
Fusion : MitelmanTPT1/SIAE [13q14.13/11q24.2]  
Fusion : MitelmanVIM/SIAE [10p13/11q24.2]  
Fusion PortalALB 4q13.3 SIAE 11q24.2 BRCA
Fusion PortalC3 19p13.3 SIAE 11q24.2 KIRC
Fusion PortalCKM 19q13.32 SIAE 11q24.2 HNSC
Fusion PortalDHCR24 1p32.3 SIAE 11q24.2 LUAD
Fusion PortalDYNC1H1 14q32.31 SIAE 11q24.2 THCA
Fusion PortalFARP1 13q32.2 SIAE 11q24.2 BRCA
Fusion PortalGDA 9q21.13 SIAE 11q24.2 KIRC
Fusion PortalHNRNPA2B1 7p15.2 SIAE 11q24.2 LUAD
Fusion PortalHSPG2 1p36.12 SIAE 11q24.2 KIRC
Fusion PortalIGFBP5 2q35 SIAE 11q24.2 THCA
Fusion PortalMUC1 1q22 SIAE 11q24.2 LUAD
Fusion PortalMYLK 3q21.1 SIAE 11q24.2 KIRC
Fusion PortalPDIA4 7q36.1 SIAE 11q24.2 THCA
Fusion PortalSLC25A3 12q23.1 SIAE 11q24.2 KIRC
Fusion PortalTPT1 13q14.13 SIAE 11q24.2 THCA
Fusion PortalVIM 10p13 SIAE 11q24.2 KIRC
Fusion : QuiverSIAE
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSIAE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SIAE
dbVarSIAE
ClinVarSIAE
1000_GenomesSIAE 
Exome Variant ServerSIAE
GNOMAD BrowserENSG00000110013
Varsome BrowserSIAE
Genetic variants : HAPMAP54414
Genomic Variants (DGV)SIAE [DGVbeta]
DECIPHERSIAE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSIAE 
Mutations
ICGC Data PortalSIAE 
TCGA Data PortalSIAE 
Broad Tumor PortalSIAE
OASIS PortalSIAE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSIAE  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSIAE
Mutations and Diseases : HGMDSIAE
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 SIAE
DgiDB (Drug Gene Interaction Database)SIAE
DoCM (Curated mutations)SIAE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SIAE (select a term)
intoGenSIAE
Cancer3DSIAE(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610079    613551   
Orphanet
DisGeNETSIAE
MedgenSIAE
Genetic Testing Registry SIAE
NextProtQ9HAT2 [Medical]
TSGene54414
GENETestsSIAE
Target ValidationSIAE
Huge Navigator SIAE [HugePedia]
snp3D : Map Gene to Disease54414
BioCentury BCIQSIAE
ClinGenSIAE
Clinical trials, drugs, therapy
Protein Interactions : CTD54414
Pharm GKB GenePA142670922
Clinical trialSIAE
Miscellaneous
canSAR (ICR)SIAE (select the gene name)
HarmonizomeSIAE
DataMed IndexSIAE
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSIAE
EVEXSIAE
GoPubMedSIAE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 15:35:35 CEST 2020
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