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 H2AFV

Gene summary

Basic gene Info.	Gene symbol	H2AFV
	Gene name	H2A histone family, member V
	Synonyms	H2A.Z-2\|H2AV
	Cytomap	UCSC genome browser: 7p13
	Type of gene	protein-coding
	RefGenes	NM_012412.4, NM_138635.3,NM_201436.2,NM_201516.2,NM_201517.2,
	Description	H2A.F/Zhistone H2A.F/Zhistone H2A.Vpurine-rich binding element protein B
	Modification date	20141207
dbXrefs	HGNC : HGNC
	Ensembl : ENSG00000105968
	HPRD : 13623
	Vega : OTTHUMG00000129217
Protein	UniProt: Q71UI9 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_H2AFV
	BioGPS: 94239
Pathway	NCI Pathway Interaction Database: H2AFV
	KEGG: H2AFV
	REACTOME: H2AFV
	Pathway Commons: H2AFV
Context	iHOP: H2AFV
	ligand binding site mutation search in PubMed: H2AFV
	UCL Cancer Institute: H2AFV
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

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Ligand binding site mutations for H2AFV

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
K78	L77V	LUAD	1
K78	L77I	UCEC	1
R81	R81C	UCEC	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 H2AFV

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
K78	L77V	-1.493151
K78	L77I	-1.3658441
R81	R81C	-0.96924466

(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 H2AFV from PDB

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Differential gene expression and gene-gene network for H2AFV

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 H2AFV and the right PPI network was created from samples without mutations in the LBS of H2AFV. 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 H2AFV

Gene level disease information (DisGeNet)

Disease ID

Disease name

# PubMed

Association type

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for H2AFV

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 H2AFV 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 H2AFV

Multiple alignments for Q71UI9 in multiple species

LBS	AA sequence	# species	Species
A15	GKA-KAKAVSR	6	Homo sapiens, Bos taurus, Mus musculus, Danio rerio, Xenopus tropicalis, Drosophila melanogaster
A15	DSV-KKKSISR	1	Arabidopsis thaliana
A15	DKD-KKKPISR	1	Arabidopsis thaliana
A15	DKDRKKAPVSR	1	Oryza sativa subsp. japonica
A15	DKG-KKAPVSR	1	Oryza sativa subsp. japonica
A15	DKDKKKAPVSR	1	Oryza sativa subsp. japonica
A15	GKS-KSKVVSR	1	Caenorhabditis elegans
A15	SKIGERGQMSH	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A15	DSG-SLRSQSS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A15	DSG-SLKSQSH	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
A15	DGG-PLGSQSH	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
A17	A-KAKAVSRSQ	5	Homo sapiens, Bos taurus, Mus musculus, Danio rerio, Xenopus tropicalis
A17	V-KKKSISRSS	1	Arabidopsis thaliana
A17	D-KKKPISRSA	1	Arabidopsis thaliana
A17	DRKKAPVSRSS	1	Oryza sativa subsp. japonica
A17	G-KKAPVSRSS	1	Oryza sativa subsp. japonica
A17	DKKKAPVSRSS	1	Oryza sativa subsp. japonica
A17	S-KSKVVSRSA	1	Caenorhabditis elegans
A17	A-KAKAVSRSA	1	Drosophila melanogaster
A17	IGERGQMSHSA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A17	G-SLRSQSSSA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A17	G-SLKSQSHSA	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
A17	G-PLGSQSHSA	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
H44	TRTTSHGRVGA	5	Homo sapiens, Bos taurus, Mus musculus, Danio rerio, Xenopus tropicalis
H44	QRVSAHGRVGA	1	Arabidopsis thaliana
H44	TRVSAHGRVGA	1	Arabidopsis thaliana
H44	GRVSANGRVGA	1	Oryza sativa subsp. japonica
H44	QRTQANGRVGA	1	Oryza sativa subsp. japonica
H44	SRASAHGRVGA	1	Oryza sativa subsp. japonica
H44	QRTTSSGRVGA	1	Caenorhabditis elegans
H44	SRTTSHGRVGA	1	Drosophila melanogaster
H44	AKTQNNMRVGA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H44	RHATGRTRVGS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H44	RNAAGRTRVGS	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
H44	KNAAGKTRVGS	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K78	ASKDLKVKRIT	12	Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Caenorhabditis elegans, Bos taurus, Mus musculus, Danio rerio, Xenopus tropicalis, Drosophila melanogaster
K78	AAKDLKVKRIT	4	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 /
R20	AKAVSRSQRAG	5	Homo sapiens, Bos taurus, Mus musculus, Danio rerio, Xenopus tropicalis
R20	KAPVSRSSRAG	3	Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
R20	KKSISRSSRAG	1	Arabidopsis thaliana
R20	KKPISRSARAG	1	Arabidopsis thaliana
R20	SKVVSRSARAG	1	Caenorhabditis elegans
R20	AKAVSRSARAG	1	Drosophila melanogaster
R20	RGQMSHSARAG	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R20	LRSQSSSARAG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R20	LKSQSHSARAG	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R20	LGSQSHSARAG	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R32	QFPVGRIHRHL	6	Homo sapiens, Bos taurus, Mus musculus, Danio rerio, Xenopus tropicalis, Drosophila melanogaster
R32	QFPVGRIHRQL	5	Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
R32	QFPVGRIKRYL	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R32	QFPVGRIHRFL	1	Caenorhabditis elegans
R32	QFPVGRVRRFL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R32	QFPVGRVKRYL	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R35	VGRIHRHLKTR	5	Homo sapiens, Bos taurus, Mus musculus, Danio rerio, Xenopus tropicalis
R35	VGRIHRQLKQR	2	Arabidopsis thaliana, Oryza sativa subsp. japonica
R35	VGRIHRQLKTR	1	Arabidopsis thaliana
R35	VGRIHRQLKGR	1	Oryza sativa subsp. japonica
R35	VGRIHRQLKSR	1	Oryza sativa subsp. japonica
R35	VGRIHRFLKQR	1	Caenorhabditis elegans
R35	VGRIHRHLKSR	1	Drosophila melanogaster
R35	VGRVRRFLKAK	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R35	VGRIKRYLKRH	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R35	VGRVKRYLKRN	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R35	VGRIKRYLKKN	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R46	TTSHGRVGATA	6	Homo sapiens, Bos taurus, Mus musculus, Danio rerio, Xenopus tropicalis, Drosophila melanogaster
R46	VSAHGRVGATA	2	Arabidopsis thaliana, Arabidopsis thaliana
R46	VSANGRVGATA	1	Oryza sativa subsp. japonica
R46	TQANGRVGATA	1	Oryza sativa subsp. japonica
R46	ASAHGRVGATA	1	Oryza sativa subsp. japonica
R46	TTSSGRVGATA	1	Caenorhabditis elegans
R46	TQNNMRVGAKS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R46	ATGRTRVGSKA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R46	AAGRTRVGSKA	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R46	AAGKTRVGSKA	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R81	DLKVKRITPRH	16	Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Caenorhabditis elegans, Bos taurus, Mus musculus, Danio rerio, Xenopus tropicalis, Drosophila melanogaster,
S19	KAKAVSRSQRA	5	Homo sapiens, Bos taurus, Mus musculus, Danio rerio, Xenopus tropicalis
S19	KKAPVSRSSRA	3	Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
S19	KKKSISRSSRA	1	Arabidopsis thaliana
S19	KKKPISRSARA	1	Arabidopsis thaliana
S19	KSKVVSRSARA	1	Caenorhabditis elegans
S19	KAKAVSRSARA	1	Drosophila melanogaster
S19	ERGQMSHSARA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S19	SLRSQSSSARA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S19	SLKSQSHSARA	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
S19	PLGSQSHSARA	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
V18	-KAKAVSRSQR	5	Homo sapiens, Bos taurus, Mus musculus, Danio rerio, Xenopus tropicalis
V18	-KKKSISRSSR	1	Arabidopsis thaliana
V18	-KKKPISRSAR	1	Arabidopsis thaliana
V18	RKKAPVSRSSR	1	Oryza sativa subsp. japonica
V18	-KKAPVSRSSR	1	Oryza sativa subsp. japonica
V18	KKKAPVSRSSR	1	Oryza sativa subsp. japonica
V18	-KSKVVSRSAR	1	Caenorhabditis elegans
V18	-KAKAVSRSAR	1	Drosophila melanogaster
V18	GERGQMSHSAR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V18	-SLRSQSSSAR	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V18	-SLKSQSHSAR	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
V18	-PLGSQSHSAR	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)