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 ACTR8

Gene summary

Basic gene Info.	Gene symbol	ACTR8
	Gene name	ARP8 actin-related protein 8 homolog (yeast)
	Synonyms	ARP8\|INO80N\|hArp8
	Cytomap	UCSC genome browser: -
	Type of gene	protein-coding
	RefGenes	NM_022899.4,
	Description	INO80 complex subunit Nactin-related protein 8
	Modification date	20141207
dbXrefs	HGNC : HGNC
	Ensembl : ENSG00000113812
	HPRD : 09792
	Vega : OTTHUMG00000158279
Protein	UniProt: Q9H981 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ACTR8
	BioGPS: 93973
Pathway	NCI Pathway Interaction Database: ACTR8
	KEGG: ACTR8
	REACTOME: ACTR8
	Pathway Commons: ACTR8
Context	iHOP: ACTR8
	ligand binding site mutation search in PubMed: ACTR8
	UCL Cancer Institute: ACTR8
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 ACTR8

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
Q344	L342F	KIRC	1
G311	D313H	LUAD	1
S55	S55L	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 ACTR8

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
Q344	L342F	-0.80242665
S55	S55L	-0.16975058
G311	D313H	-0.058032597

(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 ACTR8 from PDB

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Differential gene expression and gene-gene network for ACTR8

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 ACTR8 and the right PPI network was created from samples without mutations in the LBS of ACTR8. 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 ACTR8

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 ACTR8

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 ACTR8 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
ATP		ATP	4fo0	A	S55 G311 Q344

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Conservation information for LBS of ACTR8

Multiple alignments for Q9H981 in multiple species

LBS	AA sequence	# species	Species
D286	IVDVGDQKTSV	2	Homo sapiens, Bos taurus
D286	VVDVGDQKTSV	2	Danio rerio, Mus musculus
D286	IVNIGAQTSTV	1	Arabidopsis thaliana
D286	VVNIGAQVTQV	1	Oryza sativa subsp. japonica
D286	VVDIGAQKTSI	1	Drosophila melanogaster
D286	VVDMGAQKTSI	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D286	VVNIGAAETRI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E348	LQHLKETFCHL	3	Homo sapiens, Mus musculus, Bos taurus
E348	LNQLKESFCEI	1	Arabidopsis thaliana
E348	LNKLKESYSQI	1	Oryza sativa subsp. japonica
E348	LDELKEKFCHL	1	Drosophila melanogaster
E348	LQQLKESFCHL	1	Danio rerio
E348	ANALKIKYCGL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E348	AERLKKNFTTF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F544	GGGLMFHKAQE	3	Homo sapiens, Mus musculus, Bos taurus
F544	GGAGLTKGLVA	1	Arabidopsis thaliana
F544	GGTASTAGLAP	1	Oryza sativa subsp. japonica
F544	GSSAKLPGLAA	1	Drosophila melanogaster
F544	GGGLLFHGAQE	1	Danio rerio
F544	GGAGQFPGFAH	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F544	GGSSKIPALDF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G285	CIVDVGDQKTS	2	Homo sapiens, Bos taurus
G285	CVVDVGDQKTS	2	Danio rerio, Mus musculus
G285	CIVNIGAQTST	1	Arabidopsis thaliana
G285	CVVNIGAQVTQ	1	Oryza sativa subsp. japonica
G285	CVVDIGAQKTS	1	Drosophila melanogaster
G285	CVVDMGAQKTS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G285	CVVNIGAAETR	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G311	CLAYGGSDVSR	3	Homo sapiens, Mus musculus, Bos taurus
G311	ILPFGGEDICR	1	Arabidopsis thaliana
G311	ALPYGGDDISR	1	Oryza sativa subsp. japonica
G311	RLSYGGGDLDQ	1	Drosophila melanogaster
G311	CLAYGGSDVTR	1	Danio rerio
G311	KINYGGDDITL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G311	TLDYGGDDITR	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G539	SILVVGGGLMF	3	Homo sapiens, Mus musculus, Bos taurus
G539	SIQLIGGAGLT	1	Arabidopsis thaliana
G539	SIQLVGGTAST	1	Oryza sativa subsp. japonica
G539	SILLVGSSAKL	1	Drosophila melanogaster
G539	CILVVGGGLLF	1	Danio rerio
G539	SILIVGGAGQF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G539	NILIVGGSSKI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G54	VVIHPGSTTLR	2	Mus musculus, Bos taurus
G54	IVIHPGSTTLR	1	Homo sapiens
G54	VVINLGSANVR	1	Arabidopsis thaliana
G54	VVINPGSSNVR	1	Oryza sativa subsp. japonica
G54	IVIHPGSQHLR	1	Drosophila melanogaster
G54	VVIHPGSRTLR	1	Danio rerio
G54	IVLHIGSQNLR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G54	IVIHPGSNSIK	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G540	ILVVGGGLMFH	3	Homo sapiens, Mus musculus, Bos taurus
G540	IQLIGGAGLTK	1	Arabidopsis thaliana
G540	IQLVGGTASTA	1	Oryza sativa subsp. japonica
G540	ILLVGSSAKLP	1	Drosophila melanogaster
G540	ILVVGGGLLFH	1	Danio rerio
G540	ILIVGGAGQFP	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G540	ILIVGGSSKIP	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G541	LVVGGGLMFHK	3	Homo sapiens, Mus musculus, Bos taurus
G541	QLIGGAGLTKG	1	Arabidopsis thaliana
G541	QLVGGTASTAG	1	Oryza sativa subsp. japonica
G541	LLVGSSAKLPG	1	Drosophila melanogaster
G541	LVVGGGLLFHG	1	Danio rerio
G541	LIVGGAGQFPG	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G541	LIVGGSSKIPA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K288	DVGDQKTSVCC	4	Homo sapiens, Danio rerio, Mus musculus, Bos taurus
K288	NIGAQTSTVVC	1	Arabidopsis thaliana
K288	NIGAQVTQVVC	1	Oryza sativa subsp. japonica
K288	DIGAQKTSIAC	1	Drosophila melanogaster
K288	DMGAQKTSISC	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K288	NIGAAETRIAC	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K347	LLQHLKETFCH	3	Homo sapiens, Mus musculus, Bos taurus
K347	MLNQLKESFCE	1	Arabidopsis thaliana
K347	MLNKLKESYSQ	1	Oryza sativa subsp. japonica
K347	LLDELKEKFCH	1	Drosophila melanogaster
K347	LLQQLKESFCH	1	Danio rerio
K347	LANALKIKYCG	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K347	LAERLKKNFTT	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M543	VGGGLMFHKAQ	3	Homo sapiens, Mus musculus, Bos taurus
M543	IGGAGLTKGLV	1	Arabidopsis thaliana
M543	VGGTASTAGLA	1	Oryza sativa subsp. japonica
M543	VGSSAKLPGLA	1	Drosophila melanogaster
M543	VGGGLLFHGAQ	1	Danio rerio
M543	VGGAGQFPGFA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M543	VGGSSKIPALD	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q287	VDVGDQKTSVC	4	Homo sapiens, Danio rerio, Mus musculus, Bos taurus
Q287	VNIGAQTSTVV	1	Arabidopsis thaliana
Q287	VNIGAQVTQVV	1	Oryza sativa subsp. japonica
Q287	VDIGAQKTSIA	1	Drosophila melanogaster
Q287	VDMGAQKTSIS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q287	VNIGAAETRIA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q344	DCLLLQHLKET	3	Homo sapiens, Mus musculus, Bos taurus
Q344	DMLMLNQLKES	1	Arabidopsis thaliana
Q344	DMLMLNKLKES	1	Oryza sativa subsp. japonica
Q344	DAHLLDELKEK	1	Drosophila melanogaster
Q344	DCVLLQQLKES	1	Danio rerio
Q344	DWSLANALKIK	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q344	GWLLAERLKKN	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R59	GSTTLRIGRAT	2	Homo sapiens, Bos taurus
R59	GSANVRVGLAM	1	Arabidopsis thaliana
R59	GSSNVRIGFAS	1	Oryza sativa subsp. japonica
R59	GSQHLRIGRAA	1	Drosophila melanogaster
R59	GSRTLRLGRAT	1	Danio rerio
R59	GSTTLRLGRAT	1	Mus musculus
R59	GSQNLRIGLAS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R59	GSNSIKIGFPK	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S55	VIHPGSTTLRI	2	Homo sapiens, Bos taurus
S55	VINLGSANVRV	1	Arabidopsis thaliana
S55	VINPGSSNVRI	1	Oryza sativa subsp. japonica
S55	VIHPGSQHLRI	1	Drosophila melanogaster
S55	VIHPGSRTLRL	1	Danio rerio
S55	VIHPGSTTLRL	1	Mus musculus
S55	VLHIGSQNLRI	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S55	VIHPGSNSIKI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T56	IHPGSTTLRIG	2	Homo sapiens, Bos taurus
T56	INLGSANVRVG	1	Arabidopsis thaliana
T56	INPGSSNVRIG	1	Oryza sativa subsp. japonica
T56	IHPGSQHLRIG	1	Drosophila melanogaster
T56	IHPGSRTLRLG	1	Danio rerio
T56	IHPGSTTLRLG	1	Mus musculus
T56	LHIGSQNLRIG	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T56	IHPGSNSIKIG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T57	HPGSTTLRIGR	2	Homo sapiens, Bos taurus
T57	NLGSANVRVGL	1	Arabidopsis thaliana
T57	NPGSSNVRIGF	1	Oryza sativa subsp. japonica
T57	HPGSQHLRIGR	1	Drosophila melanogaster
T57	HPGSRTLRLGR	1	Danio rerio
T57	HPGSTTLRLGR	1	Mus musculus
T57	HIGSQNLRIGL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T57	HPGSNSIKIGF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)