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 MYH14

Gene summary

Basic gene Info.	Gene symbol	MYH14
	Gene name	myosin, heavy chain 14, non-muscle
	Synonyms	DFNA4\|DFNA4A\|MHC16\|MYH17\|NMHC II-C\|NMHC-II-C\|PNMHH\|myosin
	Cytomap	UCSC genome browser: 19q13.33
	Type of gene	protein-coding
	RefGenes	NM_001077186.1, NM_001145809.1,NM_024729.3,
	Description	MYH14 variant proteinmyosin heavy chain, non-muscle IIcmyosin, heavy polypeptide 14myosin-14non-muscle myosin heavy chain IIcnonmuscle myosin heavy chain II-C
	Modification date	20141207
dbXrefs	MIM : 608568
	HGNC : HGNC
	Ensembl : ENSG00000105357
	HPRD : 10543
	Vega : OTTHUMG00000183034
Protein	UniProt: Q7Z406 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_MYH14
	BioGPS: 79784
Pathway	NCI Pathway Interaction Database: MYH14
	KEGG: MYH14
	REACTOME: MYH14
	Pathway Commons: MYH14
Context	iHOP: MYH14
	ligand binding site mutation search in PubMed: MYH14
	UCL Cancer Institute: MYH14
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
GO:0006200	ATP catabolic process	24072716
GO:0031032	actomyosin structure organization	24072716

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Ligand binding site mutations for MYH14

Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)

: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
A480	I479T	COAD	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 MYH14

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
A480	I479T	-1.3985735

(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 MYH14 from PDB

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Differential gene expression and gene-gene network for MYH14

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 MYH14 and the right PPI network was created from samples without mutations in the LBS of MYH14. 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 MYH14

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C3280556	PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS	1	Biomarker, GeneticVariation
umls:C0033578	Prostatic Neoplasms	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for MYH14

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.

Gene-centered drug-gene interaction network

Drug information targeting mutLBSgene (Approved drugs only)

Drug status	DrugBank ID	Name	Type	Drug structure
Experimental	DB01944	(S)-blebbistatin	Small molecule
Experimental	DB03126	Mant-Adp	Small molecule
Experimental	DB04444	Tetrafluoroaluminate Ion	Small molecule
Experimental	DB07468	(3aS)-3a-hydroxy-5-methyl-1-phenyl-1,2,3,3a-tetrahydro-4H-pyrrolo[2,3-b]quinolin-4-one	Small molecule
Experimental	DB07469	(3aS)-3a-hydroxy-7-methyl-1-phenyl-1,2,3,3a-tetrahydro-4H-pyrrolo[2,3-b]quinolin-4-one	Small molecule
Experimental	DB07470	(3aS)-3a-hydroxy-1-phenyl-1,2,3,3a-tetrahydro-4H-pyrrolo[2,3-b]quinolin-4-one	Small molecule
Experimental	DB08276	N-METHYL O-NITROPHENYL AMINOETHYLDIPHOSPHATE BERYLLIUM TRIFLUORIDE	Small molecule