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 RMI1
Gene summary
Basic gene Info.Gene symbolRMI1
Gene nameRecQ mediated genome instability 1
CytomapUCSC genome browser: 9q21.32
Type of geneprotein-coding
DescriptionBLM-associated polypeptide, 75 kDaBLM-associated protein 75 kDaRMI1, RecQ mediated genome instability 1, homologhomolog of yeast RecQ-mediated genome instability 1 (RMI1)recQ-mediated genome instability protein 1
Modification date20141207
dbXrefs MIM : 610404
Ensembl : ENSG00000178966
HPRD : 09867
Vega : OTTHUMG00000020113
ProteinUniProt: Q9H9A7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RMI1
BioGPS: 80010
PathwayNCI Pathway Interaction Database: RMI1
Pathway Commons: RMI1
ContextiHOP: RMI1
ligand binding site mutation search in PubMed: RMI1
UCL Cancer Institute: RMI1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for RMI1
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
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.

Protein structure related information for RMI1
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
(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 RMI1 from PDB

Differential gene expression and gene-gene network for RMI1
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 RMI1 and the right PPI network was created from samples without mutations in the LBS of RMI1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for RMI1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for RMI1
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 RMI1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of RMI1
Multiple alignments for Q9H9A7 in multiple species
LBSAA sequence# speciesSpecies
I514KVKAFIVTLTG2Homo sapiens, Bos taurus
I514RLQAFIVTLVG1Danio rerio
I514KVKCFIVTLTG1Gallus gallus
I514TVKAFIVTLTG1Mus musculus
I586CQRDLIDLCCL2Homo sapiens, Mus musculus
I586CQRELVDMCCM1Danio rerio
I586CQKQLIDLCCL1Gallus gallus
I586CQRELIDLCCL1Bos taurus
L517AFIVTLTGNLS3Homo sapiens, Mus musculus, Bos taurus
L517AFIVTLVGNLR1Danio rerio
L517CFIVTLTGNLT1Gallus gallus
L521TLTGNLSSSGG3Homo sapiens, Mus musculus, Bos taurus
L521TLVGNLRISGG1Danio rerio
L521TLTGNLTSSNG1Gallus gallus
L578KFLEGLQKCQR2Homo sapiens, Bos taurus
L578EVDSGIQHCQR1Danio rerio
L578KLKDGLERCQK1Gallus gallus
L578TFLEGLQKCQR1Mus musculus
L585KCQRDLIDLCC2Homo sapiens, Mus musculus
L585HCQRELVDMCC1Danio rerio
L585RCQKQLIDLCC1Gallus gallus
L585KCQRELIDLCC1Bos taurus
M561FSVPEMKQSKK1Homo sapiens
M561FSAAETRVLRK1Danio rerio
M561FSVPEMHTLRK1Gallus gallus
M561YSVPEMKQLRK1Mus musculus
M561FSVSEMKRLKK1Bos taurus
N520VTLTGNLSSSG3Homo sapiens, Mus musculus, Bos taurus
N520VTLVGNLRISG1Danio rerio
N520VTLTGNLTSSN1Gallus gallus
T516KAFIVTLTGNL3Homo sapiens, Mus musculus, Bos taurus
T516QAFIVTLVGNL1Danio rerio
T516KCFIVTLTGNL1Gallus gallus
V515VKAFIVTLTGN3Homo sapiens, Mus musculus, Bos taurus
V515LQAFIVTLVGN1Danio rerio
V515VKCFIVTLTGN1Gallus gallus

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