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 MB21D1
Gene summary
Basic gene Info.Gene symbolMB21D1
Gene nameMab-21 domain containing 1
SynonymsC6orf150|cGAS|h-cGAS
CytomapUCSC genome browser: 6q13
Type of geneprotein-coding
RefGenesNM_138441.2,
DescriptioncGAMP synthasecyclic GMP-AMP synthasemab-21 domain-containing protein 1protein MB21D1
Modification date20141222
dbXrefs MIM : 613973
HGNC : HGNC
HPRD : 12857
ProteinUniProt: Q8N884
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MB21D1
BioGPS: 115004
PathwayNCI Pathway Interaction Database: MB21D1
KEGG: MB21D1
REACTOME: MB21D1
Pathway Commons: MB21D1
ContextiHOP: MB21D1
ligand binding site mutation search in PubMed: MB21D1
UCL Cancer Institute: MB21D1
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:0009190cyclic nucleotide biosynthetic process23258413
GO:0071360cellular response to exogenous dsRNA23258413


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Ligand binding site mutations for MB21D1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
C404E402DCOAD1
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 MB21D1
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
C404E402D-1.9003594
(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 MB21D1 from PDB

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Differential gene expression and gene-gene network for MB21D1
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 MB21D1 and the right PPI network was created from samples without mutations in the LBS of MB21D1. 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 MB21D1
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 MB21D1
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 MB21D1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)4km5AC404
ZNZINC(2+)4mkpAC404
ZNZINC(2+)4levAC404
ZNZINC(2+)4levBC404
ZNZINC(2+)4lewBC404
ZNZINC(2+)4lewAC404


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Conservation information for LBS of MB21D1
Multiple alignments for Q8N884 in multiple species
LBSAA sequence# speciesSpecies


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