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 H2AFY
Gene summary
Basic gene Info.Gene symbolH2AFY
Gene nameH2A histone family, member Y
SynonymsH2A.y|H2A/y|H2AF12M|H2AFJ|MACROH2A1.1|mH2A1|macroH2A1.2
CytomapUCSC genome browser: 5q31.1
Type of geneprotein-coding
RefGenesNM_001040158.1,
NM_004893.2,NM_138609.2,NM_138610.2,
Descriptioncore histone macro-H2A.1histone H2A.yhistone macroH2A1histone macroH2A1.1histone macroH2A1.2medulloblastoma antigen MU-MB-50.205
Modification date20141207
dbXrefs MIM : 610054
HGNC : HGNC
Ensembl : ENSG00000113648
HPRD : 13624
Vega : OTTHUMG00000129141
ProteinUniProt: O75367
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_H2AFY
BioGPS: 9555
PathwayNCI Pathway Interaction Database: H2AFY
KEGG: H2AFY
REACTOME: H2AFY
Pathway Commons: H2AFY
ContextiHOP: H2AFY
ligand binding site mutation search in PubMed: H2AFY
UCL Cancer Institute: H2AFY
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:0007549dosage compensation15053874


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Ligand binding site mutations for H2AFY

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
K33K33NCOAD1
R27R27LLUSC1
T11S10PLUSC1
T11T11ISKCM1
G26P24SSKCM1
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 H2AFY
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
G26P24S-1.5852743
K33K33N-1.0389676
T11S10P-0.84117422
T11T11I-0.81975426
R27R27L-0.37261363
(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 H2AFY from PDB

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Differential gene expression and gene-gene network for H2AFY
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 H2AFY and the right PPI network was created from samples without mutations in the LBS of H2AFY. 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 H2AFY
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0017661Glomerulonephritis, IGA1Biomarker

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

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Pharmacological information for H2AFY
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 H2AFY go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of H2AFY
Multiple alignments for O75367 in multiple species
LBSAA sequence# speciesSpecies
D355YFVLFDSESIG3Homo sapiens, Gallus gallus, Rattus norvegicus
D355YFMLFDSESIG1Mus musculus
F354VYFVLFDSESI3Homo sapiens, Gallus gallus, Rattus norvegicus
F354VYFMLFDSESI1Mus musculus
G26VIFPVGRMLRY4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
G315AFPSIGSGRNG4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
G317PSIGSGRNGFP4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
G42PKYRIGVGAPV4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
G74RDNKKGRVTPR4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
I41HPKYRIGVGAP4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K12KKKSTKTSRSA4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K18TSRSAKAGVIF4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K33MLRYIKKGHPK4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K73ARDNKKGRVTP4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
N319IGSGRNGFPKQ4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R15STKTSRSAKAG4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R27IFPVGRMLRYI4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R30VGRMLRYIKKG4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R318SIGSGRNGFPK4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R40GHPKYRIGVGA4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R75DNKKGRVTPRH4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
S14KSTKTSRSAKA4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
S278VIHCNSPVWGA3Homo sapiens, Mus musculus, Rattus norvegicus
S278VIHCNSPGWGS1Gallus gallus
S313SIAFPSIGSGR4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
S316FPSIGSGRNGF4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
T11GKKKSTKTSRS4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
T13KKSTKTSRSAK4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
T232DDLGNTLEKKG2Homo sapiens, Mus musculus
T232DDLGSTLEKKG2Gallus gallus, Rattus norvegicus
V43KYRIGVGAPVY4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus


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