mutLBSgeneDB |
Gene summary for H2AFY |
Gene summary |
Basic gene Info. | Gene symbol | H2AFY |
Gene name | H2A histone family, member Y | |
Synonyms | H2A.y|H2A/y|H2AF12M|H2AFJ|MACROH2A1.1|mH2A1|macroH2A1.2 | |
Cytomap | UCSC genome browser: 5q31.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001040158.1, NM_004893.2,NM_138609.2,NM_138610.2, | |
Description | core histone macro-H2A.1histone H2A.yhistone macroH2A1histone macroH2A1.1histone macroH2A1.2medulloblastoma antigen MU-MB-50.205 | |
Modification date | 20141207 | |
dbXrefs | MIM : 610054 | |
HGNC : HGNC | ||
Ensembl : ENSG00000113648 | ||
HPRD : 13624 | ||
Vega : OTTHUMG00000129141 | ||
Protein | UniProt: O75367 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_H2AFY | |
BioGPS: 9555 | ||
Pathway | NCI Pathway Interaction Database: H2AFY | |
KEGG: H2AFY | ||
REACTOME: H2AFY | ||
Pathway Commons: H2AFY | ||
Context | iHOP: H2AFY | |
ligand binding site mutation search in PubMed: H2AFY | ||
UCL Cancer Institute: H2AFY | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0007549 | dosage compensation | 15053874 |
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Ligand binding site mutations for H2AFY |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | K33 | K33N | COAD | 1 | R27 | R27L | LUSC | 1 | T11 | S10P | LUSC | 1 | T11 | T11I | SKCM | 1 | G26 | P24S | SKCM | 1 |
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. |
LBS | AAchange of nsSNV | Relative stability change | G26 | P24S | -1.5852743 | K33 | K33N | -1.0389676 | T11 | S10P | -0.84117422 | T11 | T11I | -0.81975426 | R27 | R27L | -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) |
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Phenotype information for H2AFY |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype 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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of H2AFY go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of H2AFY |
Multiple alignments for O75367 in multiple species |
LBS | AA sequence | # species | Species | D355 | YFVLFDSESIG | 3 | Homo sapiens, Gallus gallus, Rattus norvegicus | D355 | YFMLFDSESIG | 1 | Mus musculus | F354 | VYFVLFDSESI | 3 | Homo sapiens, Gallus gallus, Rattus norvegicus | F354 | VYFMLFDSESI | 1 | Mus musculus | G26 | VIFPVGRMLRY | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | G315 | AFPSIGSGRNG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | G317 | PSIGSGRNGFP | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | G42 | PKYRIGVGAPV | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | G74 | RDNKKGRVTPR | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | I41 | HPKYRIGVGAP | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K12 | KKKSTKTSRSA | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K18 | TSRSAKAGVIF | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K33 | MLRYIKKGHPK | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K73 | ARDNKKGRVTP | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | N319 | IGSGRNGFPKQ | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R15 | STKTSRSAKAG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R27 | IFPVGRMLRYI | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R30 | VGRMLRYIKKG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R318 | SIGSGRNGFPK | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R40 | GHPKYRIGVGA | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R75 | DNKKGRVTPRH | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | S14 | KSTKTSRSAKA | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | S278 | VIHCNSPVWGA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S278 | VIHCNSPGWGS | 1 | Gallus gallus | S313 | SIAFPSIGSGR | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | S316 | FPSIGSGRNGF | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | T11 | GKKKSTKTSRS | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | T13 | KKSTKTSRSAK | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | T232 | DDLGNTLEKKG | 2 | Homo sapiens, Mus musculus | T232 | DDLGSTLEKKG | 2 | Gallus gallus, Rattus norvegicus | V43 | KYRIGVGAPVY | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus |
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