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 101928623

Gene summary

Basic gene Info.	Gene symbol	101928623
	Gene name
	Synonyms
	Cytomap	UCSC genome browser:
	Type of gene
	RefGenes
	Description
	Modification date
dbXrefs
Protein	UniProt: P12081 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_101928623
	BioGPS: 101928623
Pathway	NCI Pathway Interaction Database: 101928623
	KEGG: 101928623
	REACTOME: 101928623
	Pathway Commons: 101928623
Context	iHOP: 101928623
	ligand binding site mutation search in PubMed: 101928623
	UCL Cancer Institute: 101928623
Assigned class in mutLBSgeneDB

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 101928623

Cancer type specific mutLBS sorted by frequency

LBS

AAchange of nsSNV

Cancer 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.

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Protein structure related information for 101928623

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
D130	D130G	-1.3548064
Y363	R362G	-1.080917

(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 101928623 from PDB

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Differential gene expression and gene-gene network for 101928623

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 101928623 and the right PPI network was created from samples without mutations in the LBS of 101928623. 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 101928623

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 101928623

Drug information targeting mutLBSgene (Approved drugs only)

Drug status	DrugBank ID	Name	Type	Drug structure
Approved\|nutraceutical	DB00117	L-Histidine	Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of 101928623 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
HIS		L-HISTIDINE	4phc	A	D130 Y363
HIS		L-HISTIDINE	4phc	B	D130 Y363
HIS		L-HISTIDINE	4phc	C	D130 Y363
HIS		L-HISTIDINE	4phc	D	D130 Y363

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Conservation information for LBS of 101928623

Multiple alignments for P12081 in multiple species

LBS	AA sequence	# species	Species
D130	LSLRYDLTVPF	4	Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus
D130	CSLRYDLTVPF	4	Arabidopsis thaliana, Oryza sativa subsp. japonica, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D175	EFYQCDFDIAG	7	Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Caenorhabditis elegans, Bos taurus, Mus musculus
D175	EFYQCDFDVAG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D177	YQCDFDIAGQF	2	Bos taurus, Mus musculus
D177	YQCDFDIAGNF	1	Homo sapiens
D177	YQCDFDIAGLF	1	Arabidopsis thaliana
D177	YQCDFDIAGVY	1	Oryza sativa subsp. japonica
D177	YQCDFDVAGTF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D177	YQCDFDIAGNY	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D177	YQCDFDIAGQY	1	Caenorhabditis elegans
G360	GSVAAGGRYDG	3	Homo sapiens, Caenorhabditis elegans, Bos taurus
G360	GSIAAGGRYDN	3	Oryza sativa subsp. japonica, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G360	GSIGAGGRYDN	1	Arabidopsis thaliana
G360	GSIAAGGRYDG	1	Mus musculus
G381	-VPCVGLSIGV	3	Homo sapiens, Bos taurus, Mus musculus
G381	-VPAVGMSLGI	1	Arabidopsis thaliana
G381	-VPAVGVSLGI	1	Oryza sativa subsp. japonica
G381	QIPCVGISFGV	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G381	-IPCVGISLGL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G381	-VPCCGVSFGI	1	Caenorhabditis elegans
L328	SLARGLDYYTG	8	Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Caenorhabditis elegans, Bos taurus, Mus musculus
L382	VPCVGLSIGVE	3	Homo sapiens, Bos taurus, Mus musculus
L382	VPAVGMSLGIE	1	Arabidopsis thaliana
L382	VPAVGVSLGIE	1	Oryza sativa subsp. japonica
L382	IPCVGISFGVE	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L382	IPCVGISLGLE	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L382	VPCCGVSFGIE	1	Caenorhabditis elegans
Q173	YREFYQCDFDI	6	Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Caenorhabditis elegans, Bos taurus, Mus musculus
Q173	MREFYQCDFDV	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q173	MREFYQCDFDI	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R157	IAKVYRRDNPA	3	Homo sapiens, Bos taurus, Mus musculus
R157	IAKVYRRDNP-	2	Arabidopsis thaliana, Oryza sativa subsp. japonica
R157	IAKVYRRDQPA	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R157	IAKVYRRDQPV	1	Caenorhabditis elegans
R326	DLSLARGLDYY	6	Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Bos taurus, Mus musculus
R326	DMSLARGLDYY	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R326	EPSLARGLDYY	1	Caenorhabditis elegans
S383	PCVGLSIGVER	3	Homo sapiens, Bos taurus, Mus musculus
S383	PAVGMSLGIER	1	Arabidopsis thaliana
S383	PAVGVSLGIER	1	Oryza sativa subsp. japonica
S383	PCVGISFGVER	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S383	PCVGISLGLER	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S383	PCCGVSFGIER	1	Caenorhabditis elegans
T132	LRYDLTVPFAR	8	Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Caenorhabditis elegans, Bos taurus, Mus musculus
Y330	ARGLDYYTGVI	5	Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Bos taurus, Mus musculus
Y330	ARGLDYYTGLI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y330	ARGLDYYTGII	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y330	ARGLDYYTGAI	1	Caenorhabditis elegans
Y331	RGLDYYTGVIY	4	Homo sapiens, Oryza sativa subsp. japonica, Bos taurus, Mus musculus
Y331	RGLDYYTGVIF	1	Arabidopsis thaliana
Y331	RGLDYYTGLIY	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y331	RGLDYYTGIIY	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y331	RGLDYYTGAIY	1	Caenorhabditis elegans
Y363	AAGGRYDGLVG	3	Homo sapiens, Bos taurus, Mus musculus
Y363	AAGGRYDNLVG	2	Oryza sativa subsp. japonica, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y363	GAGGRYDNLIG	1	Arabidopsis thaliana
Y363	AAGGRYDNLVN	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y363	AAGGRYDGLVK	1	Caenorhabditis elegans