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 ASH2L
Gene summary
Basic gene Info.Gene symbolASH2L
Gene nameash2 (absent, small, or homeotic)-like (Drosophila)
CytomapUCSC genome browser: 8p11.2
Type of geneprotein-coding
DescriptionASH2-like proteinset1/Ash2 histone methyltransferase complex subunit ASH2
Modification date20141207
dbXrefs MIM : 604782
Ensembl : ENSG00000129691
HPRD : 05309
Vega : OTTHUMG00000164016
ProteinUniProt: Q9UBL3
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ASH2L
BioGPS: 9070
PathwayNCI Pathway Interaction Database: ASH2L
Pathway Commons: ASH2L
ContextiHOP: ASH2L
ligand binding site mutation search in PubMed: ASH2L
UCL Cancer Institute: ASH2L
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006974cellular response to DNA damage stimulus17500065
GO:0043627response to estrogen16603732
GO:0051568histone H3-K4 methylation17355966

Ligand binding site mutations for ASH2L
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for ASH2L
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
(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 ASH2L from PDB

Differential gene expression and gene-gene network for ASH2L
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 ASH2L and the right PPI network was created from samples without mutations in the LBS of ASH2L. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ASH2L
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for ASH2L
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 ASH2L go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of ASH2L
Multiple alignments for Q9UBL3 in multiple species
LBSAA sequence# speciesSpecies
A435MPPDTAARLGW2Homo sapiens, Mus musculus
A435GDDGAHVRIGV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A435MPDGAATRLGW1Drosophila melanogaster
C117EVELQCGICTK2Homo sapiens, Mus musculus
C117FPDLQCSVCLN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C117IVELLCATCSR1Drosophila melanogaster
C120LQCGICTKWFT2Homo sapiens, Mus musculus
C120LQCSVCLNMFH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C120LLCATCSRWVH1Drosophila melanogaster
C147NYSFHCNVCHH2Homo sapiens, Mus musculus
C147NYQFVCKHCTE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C147NYVFVCKNCSA1Drosophila melanogaster
C150FHCNVCHHSGN2Homo sapiens, Mus musculus
C150FVCKHCTEDGF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C150FVCKNCSASGL1Drosophila melanogaster
F468KKGTKFHQSIG2Homo sapiens, Mus musculus
F468LGGQKVHMSRP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F468RKGTKFTESHG1Drosophila melanogaster
G406VVGEKGYSMVR2Homo sapiens, Mus musculus
G406ATVEKGFRMAR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G406VTGERGYCMVR1Drosophila melanogaster
G473FHQSIGKHYSS2Homo sapiens, Mus musculus
G473VHMSRPRNFMD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G473FTESHGKHYSD1Drosophila melanogaster
I472KFHQSIGKHYS2Homo sapiens, Mus musculus
I472KVHMSRPRNFM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I472KFTESHGKHYS1Drosophila melanogaster
K463YSWRSKKGTKF2Homo sapiens, Mus musculus
K463YGLRDLGGQKV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K463YSWRSRKGTKF1Drosophila melanogaster
P450GNLQAPLGYDK3Homo sapiens, Drosophila melanogaster, Mus musculus
P450APLDAPVGYDA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q470GTKFHQSIGKH2Homo sapiens, Mus musculus
Q470GQKVHMSRPRN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q470GTKFTESHGKH1Drosophila melanogaster
R437PDTAARLGWSQ2Homo sapiens, Mus musculus
R437DGAHVRIGVSR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R437DGAATRLGWGR1Drosophila melanogaster
R461FSYSWRSKKGT2Homo sapiens, Mus musculus
R461YSYGLRDLGGQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R461FGYSWRSRKGT1Drosophila melanogaster
S471TKFHQSIGKHY2Homo sapiens, Mus musculus
S471QKVHMSRPRNF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S471TKFTESHGKHY1Drosophila melanogaster
Y407VGEKGYSMVRA2Homo sapiens, Mus musculus
Y407TVEKGFRMARS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y407TGERGYCMVRA1Drosophila melanogaster
Y453QAPLGYDKFSY2Homo sapiens, Mus musculus
Y453DAPVGYDAYSY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y453QAPLGYDKFGY1Drosophila melanogaster
Y569PAISLYKSCTV2Homo sapiens, Mus musculus
Y569PSISMYGGGIA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y569PAISIHKSATV1Drosophila melanogaster

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