mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for ST8SIA3
Gene summary
Basic gene Info.Gene symbolST8SIA3
Gene nameST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3
SynonymsSIAT8C|ST8SiaIII
CytomapUCSC genome browser: 18q21.31
Type of geneprotein-coding
RefGenesNM_015879.2,
DescriptionSIAT8-Calpha-2,8-sialyltransferase 8Calpha-2,8-sialyltransferase IIIsia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferasesialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)sialyltransferase St8Sia IIIsialytransferase
Modification date20141207
dbXrefs MIM : 609478
HGNC : HGNC
Ensembl : ENSG00000177511
HPRD : 15343
Vega : OTTHUMG00000180101
ProteinUniProt: O43173
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ST8SIA3
BioGPS: 51046
PathwayNCI Pathway Interaction Database: ST8SIA3
KEGG: ST8SIA3
REACTOME: ST8SIA3
Pathway Commons: ST8SIA3
ContextiHOP: ST8SIA3
ligand binding site mutation search in PubMed: ST8SIA3
UCL Cancer Institute: ST8SIA3
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0001574ganglioside biosynthetic process10766765
GO:0006486protein glycosylation10766765
GO:0006491N-glycan processing10766765
GO:0009100glycoprotein metabolic process10766765
GO:0009311oligosaccharide metabolic process10766765
GO:0097503sialylation10766765


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Ligand binding site mutations for ST8SIA3

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
G320G320RSKCM2
I214E216KSKCM2
N190A192TBLCA1
R298R298WCOAD1
I161Y159HCOAD1
P246P246HLUSC1
R298P296TLUSC1
F250,T252H251YSKCM1
S353S353FSKCM1
C189R188CUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for ST8SIA3
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
N190A192T-1.3791496
P246P246H-1.1494759
I161Y159H-1.1213395
I214E216K-1.0651429
C189R188C-0.9833168
R298R298W-0.89761328
R298P296T-0.79675939
G320G320R-0.79062549
S353S353F-0.38101809
F250H251Y-0.043586216
T252H251Y-0.043586216
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for ST8SIA3 from PDB
PDB IDPDB titlePDB structure
5BO8Structure of human sialyltransferase ST8SiaIII

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Differential gene expression and gene-gene network for ST8SIA3
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of ST8SIA3 and the right PPI network was created from samples without mutations in the LBS of ST8SIA3. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for ST8SIA3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for ST8SIA3
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ST8SIA3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CDPCDP5bo6AC189 N190 G320
CDPCDP5bo6BC189 N190 G320
CTPCTP5bo7AC189 N190 G320
CTPCTP5bo7BC189 N190 G320
CSFCYTIDINE-5'-MONOPHOSPHATE-3-FLUORO-N-ACETYL-NEURAMINIC ACID5bo9AC189 N190 I214 G320
CSFCYTIDINE-5'-MONOPHOSPHATE-3-FLUORO-N-ACETYL-NEURAMINIC ACID5bo9BC189 N190 I214 G320
GALBETA-D-GALACTOSE5bo9AF250 T252 R298
GALBETA-D-GALACTOSE5bo9BF250 T252 R298
FUCALPHA-L-FUCOPYRANOSE5bo6AI161
FU42,6-ANHYDRO-1-DEOXY-D-GALACTITOL5bo7AI161
FUCALPHA-L-FUCOPYRANOSE5bo8BI161
FUCALPHA-L-FUCOPYRANOSE5bo9AI161
SIAN-ACETYLNEURAMINIC ACID5bo9AP246 R298
SIAN-ACETYLNEURAMINIC ACID5bo9BP246 R298
NGSN-ACETYL-D-GLUCOSAMINE 6-SULFATE5bo9AR298 S353


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Conservation information for LBS of ST8SIA3
Multiple alignments for O43173 in multiple species
LBSAA sequence# speciesSpecies
C189DFVFRCNFAPT3Homo sapiens, Pan troglodytes, Mus musculus
E352TTKWQESHQLP3Homo sapiens, Pan troglodytes, Mus musculus
F249WIPAFFFHTSA3Homo sapiens, Pan troglodytes, Mus musculus
F250IPAFFFHTSAT3Homo sapiens, Pan troglodytes, Mus musculus
F321IHLYGFWPFGF3Homo sapiens, Pan troglodytes, Mus musculus
G166ICAVVGNSGIL2Homo sapiens, Pan troglodytes
G166VCAVVGNSGIL1Mus musculus
G302KRLSTGILMYT3Homo sapiens, Pan troglodytes, Mus musculus
G320EIHLYGFWPFG3Homo sapiens, Pan troglodytes, Mus musculus
H317ICEEIHLYGFW3Homo sapiens, Pan troglodytes, Mus musculus
H337EDLPYHYYDKK3Homo sapiens, Pan troglodytes, Mus musculus
H354KWQESHQLPAE3Homo sapiens, Pan troglodytes, Mus musculus
I161NKHYNICAVVG2Homo sapiens, Pan troglodytes
I161NKRYNVCAVVG1Mus musculus
I214TFNPSILEKYY3Homo sapiens, Pan troglodytes, Mus musculus
K349TKFTTKWQESH3Homo sapiens, Pan troglodytes, Mus musculus
N167CAVVGNSGILT3Homo sapiens, Pan troglodytes, Mus musculus
N190FVFRCNFAPTE3Homo sapiens, Pan troglodytes, Mus musculus
N211NLTTFNPSILE3Homo sapiens, Pan troglodytes, Mus musculus
P212LTTFNPSILEK3Homo sapiens, Pan troglodytes, Mus musculus
P246AILWIPAFFFH3Homo sapiens, Pan troglodytes, Mus musculus
P323LYGFWPFGFDP3Homo sapiens, Pan troglodytes, Mus musculus
R298HLSPKRLSTGI3Homo sapiens, Pan troglodytes, Mus musculus
S168AVVGNSGILTG3Homo sapiens, Pan troglodytes, Mus musculus
S213TTFNPSILEKY3Homo sapiens, Pan troglodytes, Mus musculus
S300SPKRLSTGILM3Homo sapiens, Pan troglodytes, Mus musculus
S353TKWQESHQLPA3Homo sapiens, Pan troglodytes, Mus musculus
T252AFFFHTSATVT3Homo sapiens, Pan troglodytes, Mus musculus
T301PKRLSTGILMY3Homo sapiens, Pan troglodytes, Mus musculus
W322HLYGFWPFGFD3Homo sapiens, Pan troglodytes, Mus musculus
W350KFTTKWQESHQ3Homo sapiens, Pan troglodytes, Mus musculus
Y131LMHYDYSSHKY3Homo sapiens, Pan troglodytes, Mus musculus
Y336REDLPYHYYDK3Homo sapiens, Pan troglodytes, Mus musculus


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