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 26787

Gene summary

Basic gene Info.	Gene symbol	26787
	Gene name
	Synonyms
	Cytomap	UCSC genome browser:
	Type of gene
	RefGenes
	Description
	Modification date
dbXrefs
Protein	UniProt: P38159 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_26787
	BioGPS: 26787
Pathway	NCI Pathway Interaction Database: 26787
	KEGG: 26787
	REACTOME: 26787
	Pathway Commons: 26787
Context	iHOP: 26787
	ligand binding site mutation search in PubMed: 26787
	UCL Cancer Institute: 26787
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 26787

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 26787

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
M40	M40I	-1.1601826
D5	E3G	-0.801607
D5	D5Y	-0.66713807
F51	A52D	-0.57797673
F53	A52D	-0.57797673
D5	D5E	-0.5742258
K9	G8V	-0.024664764

(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 26787 from PDB

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Differential gene expression and gene-gene network for 26787

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 26787 and the right PPI network was created from samples without mutations in the LBS of 26787. 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 26787

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 26787

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 26787 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
NUC		Nucleic Acids	2mb0	B	D5 K9 M40 F51 F53

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Conservation information for LBS of 26787

Multiple alignments for P38159 in multiple species

LBS	AA sequence	# species	Species
A78	SLDGKAIKVEQ	4	Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
A78	PLDGKPIKVEQ	1	Danio rerio
D5		5	Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus
E82	KAIKVEQATKP	4	Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
E82	KPIKVEQATKP	1	Danio rerio
F11	RPGKLFIGGLN	5	Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus
F51	NKSRGFAFVTF	4	Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
F51	NKSRGFAFVTY	1	Danio rerio
F53	SRGFAFVTFES	4	Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
F53	SRGFAFVTYEN	1	Danio rerio
F89	ATKPSFE-SGR	4	Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
F89	ATKPQFETSGR	1	Danio rerio
G14	KLFIGGLNTET	5	Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus
I79	LDGKAIKVEQA	4	Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
I79	LDGKPIKVEQA	1	Danio rerio
K80	DGKAIKVEQAT	4	Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
K80	DGKPIKVEQAT	1	Danio rerio
K86	VEQATKPSFE-	4	Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
K86	VEQATKPQFET	1	Danio rerio
K9	ADRPGKLFIGG	5	Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus
L38	RIVEVLLMKDR	4	Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
L38	RISEVLLMKDR	1	Danio rerio
M40	VEVLLMKDRET	4	Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
M40	SEVLLMKDRET	1	Danio rerio
P87	EQATKPSFE-S	4	Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
P87	EQATKPQFETS	1	Danio rerio
Q83	AIKVEQATKPS	4	Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
Q83	PIKVEQATKPQ	1	Danio rerio
R49	ETNKSRGFAFV	5	Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus
S88	QATKPSFE-SG	4	Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
S88	QATKPQFETSG	1	Danio rerio
T85	KVEQATKPSFE	4	Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
T85	KVEQATKPQFE	1	Danio rerio