mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 MYO1C
Gene summary
Basic gene Info.Gene symbolMYO1C
Gene namemyosin IC
SynonymsMMI-beta|MMIb|NMI|myr2
CytomapUCSC genome browser: 17p13.3
Type of geneprotein-coding
RefGenesNM_001080779.1,
NM_001080950.1,NM_033375.4,
Descriptionmyosin I betamyosin-I betamyosin-Icnuclear myosin Iunconventional myosin-Ic
Modification date20141207
dbXrefs MIM : 606538
HGNC : HGNC
Ensembl : ENSG00000197879
HPRD : 09411
Vega : OTTHUMG00000090323
ProteinUniProt: O00159
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MYO1C
BioGPS: 4641
PathwayNCI Pathway Interaction Database: MYO1C
KEGG: MYO1C
REACTOME: MYO1C
Pathway Commons: MYO1C
ContextiHOP: MYO1C
ligand binding site mutation search in PubMed: MYO1C
UCL Cancer Institute: MYO1C
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006605protein targeting21402783
GO:0006612protein targeting to membrane21402783


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Ligand binding site mutations for MYO1C
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
LBSAAchange of nsSNVCancer type# samples
S196S196CLUAD1
E148A149VSKCM1
E141S139YSKCM1
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 MYO1C
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.
LBSAAchange of nsSNVRelative stability change
E148A149V-0.83345926
S196S196C-0.61756643
E141S139Y-0.61195486
(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 MYO1C from PDB

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Differential gene expression and gene-gene network for MYO1C
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 MYO1C and the right PPI network was created from samples without mutations in the LBS of MYO1C. 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 MYO1C
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for MYO1C
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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MYO1C go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of MYO1C
Multiple alignments for O00159 in multiple species
LBSAA sequence# speciesSpecies
A144SGESGAGKTEA5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
A144SGESGSGKTEA1Drosophila melanogaster
E141VMISGESGAGK4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
E141VLISGESGSGK1Drosophila melanogaster
E141ILISGESGAGK1Gallus gallus
E148GAGKTEATKRL4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
E148GSGKTEASKKV1Drosophila melanogaster
E148GAGKTEATKKI1Gallus gallus
G143ISGESGAGKTE5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
G143ISGESGSGKTE1Drosophila melanogaster
G145GESGAGKTEAT5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
G145GESGSGKTEAS1Drosophila melanogaster
G424LLDIYGFEVFQ5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
G424ILDIYGFEIFQ1Drosophila melanogaster
K146ESGAGKTEATK5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
K146ESGSGKTEASK1Drosophila melanogaster
N192AKTLRNDNSSR4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
N192AKTNRNDNSSR1Drosophila melanogaster
N192TKTLRNDNSSR1Gallus gallus
N194TLRNDNSSRFG5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
N194TNRNDNSSRFG1Drosophila melanogaster
N88VLVSVNPYRDL4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
N88VLISVNPYKQL1Drosophila melanogaster
N88VLVSVNPYKEL1Gallus gallus
P89LVSVNPYRDLQ4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
P89LISVNPYKQLP1Drosophila melanogaster
P89LVSVNPYKELE1Gallus gallus
R91SVNPYRDLQIY4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
R91SVNPYKQLPIY1Drosophila melanogaster
R91SVNPYKELEIY1Gallus gallus
S142MISGESGAGKT4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
S142LISGESGSGKT1Drosophila melanogaster
S142LISGESGAGKT1Gallus gallus
S195LRNDNSSRFGK5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
S195NRNDNSSRFGK1Drosophila melanogaster
S196RNDNSSRFGKY6Homo sapiens, Drosophila melanogaster, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
T147SGAGKTEATKR4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
T147SGSGKTEASKK1Drosophila melanogaster
T147SGAGKTEATKK1Gallus gallus
Y423GLLDIYGFEVF5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
Y423GILDIYGFEIF1Drosophila melanogaster
Y96RDLQIYSRQHM3Homo sapiens, Bos taurus, Mus musculus
Y96KQLPIYTDDHV1Drosophila melanogaster
Y96KELEIYSKQNM1Gallus gallus
Y96RDLQIYTRQHM1Rattus norvegicus


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