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 MARCH8
Gene summary
Basic gene Info.Gene symbolMARCH8
Gene namemembrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase
SynonymsMARCH-VIII|MIR|RNF178|c-MIR
CytomapUCSC genome browser: 10q11.21
Type of geneprotein-coding
RefGenesNM_001002265.1,
NM_001002266.2,NM_001282866.1,NM_145021.5,
DescriptionE3 ubiquitin-protein ligase MARCH8RING finger protein 178c-mir, cellular modulator of immune recognitioncellular modulator of immune recognition (c-MIR)membrane-associated RING finger protein 8membrane-associated RING-CH protein VIII
Modification date20141211
dbXrefs MIM : 613335
HGNC : HGNC
Ensembl : ENSG00000165406
HPRD : 17466
Vega : OTTHUMG00000019345
ProteinUniProt: Q5T0T0
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MARCH8
BioGPS: 220972
PathwayNCI Pathway Interaction Database: MARCH8
KEGG: MARCH8
REACTOME: MARCH8
Pathway Commons: MARCH8
ContextiHOP: MARCH8
ligand binding site mutation search in PubMed: MARCH8
UCL Cancer Institute: MARCH8
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:0000209protein polyubiquitination19117940


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Ligand binding site mutations for MARCH8

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
C123E124KCOAD1
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 MARCH8
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
C123E124K-0.90838774
(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 MARCH8 from PDB

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Differential gene expression and gene-gene network for MARCH8
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 MARCH8 and the right PPI network was created from samples without mutations in the LBS of MARCH8. 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 MARCH8
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0014859Esophageal Neoplasms1Biomarker

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

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Pharmacological information for MARCH8
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 MARCH8 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of MARCH8
Multiple alignments for Q5T0T0 in multiple species
LBSAA sequence# speciesSpecies
C110FVHQACLQQWI3Homo sapiens, Xenopus tropicalis, Mus musculus
C110FVHQTCLQQWI1Bos taurus
C123SDTRCCELCKY3Homo sapiens, Mus musculus, Bos taurus
C123SDTRCCELCKF1Xenopus tropicalis
C126RCCELCKYEFI3Homo sapiens, Mus musculus, Bos taurus
C126RCCELCKFEFI1Xenopus tropicalis
C80SSQDICRICHC2Homo sapiens, Xenopus tropicalis
C80SNQDICRICHC2Mus musculus, Bos taurus
C83DICRICHCEGD4Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus
C97PLITPCHCTGS3Homo sapiens, Xenopus tropicalis, Mus musculus
C97PLITPCRCTGS1Bos taurus
C99ITPCHCTGSLH3Homo sapiens, Xenopus tropicalis, Mus musculus
C99ITPCRCTGSLH1Bos taurus
H107SLHFVHQACLQ3Homo sapiens, Xenopus tropicalis, Mus musculus
H107SLHFVHQTCLQ1Bos taurus


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