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 102466733

Gene summary

Basic gene Info.	Gene symbol	102466733
	Gene name
	Synonyms
	Cytomap	UCSC genome browser:
	Type of gene
	RefGenes
	Description
	Modification date
dbXrefs
Protein	UniProt: P34896 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_102466733
	BioGPS: 102466733
Pathway	NCI Pathway Interaction Database: 102466733
	KEGG: 102466733
	REACTOME: 102466733
	Pathway Commons: 102466733
Context	iHOP: 102466733
	ligand binding site mutation search in PubMed: 102466733
	UCL Cancer Institute: 102466733
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 102466733

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 102466733

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
H148	G146E	-0.59475957
H148	G146V	-0.45034028

(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 102466733 from PDB

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Differential gene expression and gene-gene network for 102466733

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 102466733 and the right PPI network was created from samples without mutations in the LBS of 102466733. 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 102466733

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 102466733

Drug information targeting mutLBSgene (Approved drugs only)

Drug status	DrugBank ID	Name	Type	Drug structure
Nutraceutical	DB00114	Pyridoxal Phosphate	Small molecule
Approved\|nutraceutical	DB00116	Tetrahydrofolic acid	Small molecule
Approved\|nutraceutical\|vet_approved	DB00145	Glycine	Small molecule
Approved	DB01055	Mimosine	Small molecule
Experimental	DB02067	Triglu-5-Formyl-Tetrahydrofolate	Small molecule
Experimental	DB02800	5-Hydroxymethylene-6-Hydrofolic Acid	Small molecule
Experimental	DB02824	N-Pyridoxyl-Glycine-5-Monophosphate	Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of 102466733 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
PLP		PYRIDOXAL 5'-PHOSPHATE	1bj4	A	H148

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Conservation information for LBS of 102466733

Multiple alignments for P34896 in multiple species

LBS	AA sequence	# species	Species
A230	LMADMAHISGL	2	Homo sapiens, Mus musculus
A230	LVVDMAHISGL	2	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
A230	LMVDMAHISGL	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
A230	LMSDMAHISGL	1	Caenorhabditis elegans
A230	LMADMAHVSGL	1	Bos taurus
A230	MLADMAHISGL	1	Arabidopsis thaliana
D228	AYLMADMAHIS	2	Homo sapiens, Mus musculus
D228	AYLVVDMAHIS	2	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
D228	AYLMVDMAHIS	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
D228	AYLMSDMAHIS	1	Caenorhabditis elegans
D228	AYLMADMAHVS	1	Bos taurus
D228	AVMLADMAHIS	1	Arabidopsis thaliana
G120	VQPYSGSPANF	3	Homo sapiens, Bos taurus, Mus musculus
G120	VQPLSGSPANF	1	Caenorhabditis elegans
G120	VQSLSGSPANF	1	Arabidopsis thaliana
G120	VQCLSGSPANM	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G120	VQCLSGSPANL	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
G120	VQTLSGSPANL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G120	VQSLSGSPANL	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
H148	LPDGGHLTHGF	4	Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus
H148	LPHGGHLSHGY	2	Arabidopsis thaliana, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
H148	LPDGGHLSHGY	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
H148	LPSGGHLSHGY	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H151	GGHLTHGFMTD	3	Homo sapiens, Bos taurus, Mus musculus
H151	GGHLSHGYQTD	2	Arabidopsis thaliana, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H151	GGHLTHGFFTP	1	Caenorhabditis elegans
H151	GGHLSHGYQTP	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
H151	GGHLSHGYATE	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H151	GGHLSHGYQTE	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
H231	MADMAHISGLV	2	Homo sapiens, Mus musculus
H231	MSDMAHISGLV	1	Caenorhabditis elegans
H231	MADMAHVSGLV	1	Bos taurus
H231	LADMAHISGLV	1	Arabidopsis thaliana
H231	VVDMAHISGLV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H231	VVDMAHISGLI	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
H231	MVDMAHISGLI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H231	MVDMAHISGLV	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
H256	VTTTTHKSLRG	6	Caenorhabditis elegans, Arabidopsis thaliana, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypi
H256	VTTTTHKTLRG	2	Homo sapiens, Mus musculus
H256	VSTTTHKTLRG	1	Bos taurus
K257	TTTTHKSLRGP	6	Caenorhabditis elegans, Arabidopsis thaliana, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypi
K257	TTTTHKTLRGC	2	Homo sapiens, Mus musculus
K257	STTTHKTLRGC	1	Bos taurus
S119	NVQPYSGSPAN	3	Homo sapiens, Bos taurus, Mus musculus
S119	NVQSLSGSPAN	2	Arabidopsis thaliana, Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S119	NVQCLSGSPAN	2	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
S119	NVQPLSGSPAN	1	Caenorhabditis elegans
S119	NVQTLSGSPAN	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S121	QPYSGSPANFA	3	Homo sapiens, Bos taurus, Mus musculus
S121	QPLSGSPANFA	1	Caenorhabditis elegans
S121	QSLSGSPANFQ	1	Arabidopsis thaliana
S121	QCLSGSPANMQ	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S121	QCLSGSPANLQ	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
S121	QTLSGSPANLQ	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S121	QSLSGSPANLQ	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
T202	LIIAGTSCYSR	3	Homo sapiens, Bos taurus, Mus musculus
T202	ILVAGTSAYCR	2	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
T202	VLVAGTSAYCR	2	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T202	AIIAGVSCYAR	1	Caenorhabditis elegans
T202	LIVAGASAYAR	1	Arabidopsis thaliana
T254	DVVTTTTHKSL	4	Caenorhabditis elegans, Arabidopsis thaliana, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
T254	HVVTTTTHKTL	2	Homo sapiens, Mus musculus
T254	DIVTTTTHKSL	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
T254	HVVSTTTHKTL	1	Bos taurus