mutLBSgeneDB |
Gene summary for RMI1 |
Gene summary |
Basic gene Info. | Gene symbol | RMI1 |
Gene name | RecQ mediated genome instability 1 | |
Synonyms | BLAP75|C9orf76|FAAP75 | |
Cytomap | UCSC genome browser: 9q21.32 | |
Type of gene | protein-coding | |
RefGenes | NM_024945.2, | |
Description | BLM-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 date | 20141207 | |
dbXrefs | MIM : 610404 | |
HGNC : HGNC | ||
Ensembl : ENSG00000178966 | ||
HPRD : 09867 | ||
Vega : OTTHUMG00000020113 | ||
Protein | UniProt: Q9H9A7 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_RMI1 | |
BioGPS: 80010 | ||
Pathway | NCI Pathway Interaction Database: RMI1 | |
KEGG: RMI1 | ||
REACTOME: RMI1 | ||
Pathway Commons: RMI1 | ||
Context | iHOP: RMI1 | |
ligand binding site mutation search in PubMed: RMI1 | ||
UCL Cancer Institute: RMI1 | ||
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 |
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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 |
LBS | AAchange of nsSNV | Cancer type | # samples | I586 | L588V | COAD | 1 | L521 | L521V | LUAD | 1 | M561 | M561I | SKCM | 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 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. |
LBS | AAchange of nsSNV | Relative stability change | I586 | L588V | -1.4575851 | M561 | M561I | -1.4367476 | L521 | L521V | -0.60053068 |
(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 |
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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) |
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Phenotype information for RMI1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of RMI1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ASP,LEU,PHE,SER,VAL,THR,PHE,ASP,LEU,GLY,PHE,CYS) | 4day | A | L521 M561 I586 |
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Conservation information for LBS of RMI1 |
Multiple alignments for Q9H9A7 in multiple species |
LBS | AA sequence | # species | Species | I514 | KVKAFIVTLTG | 2 | Homo sapiens, Bos taurus | I514 | RLQAFIVTLVG | 1 | Danio rerio | I514 | KVKCFIVTLTG | 1 | Gallus gallus | I514 | TVKAFIVTLTG | 1 | Mus musculus | I586 | CQRDLIDLCCL | 2 | Homo sapiens, Mus musculus | I586 | CQRELVDMCCM | 1 | Danio rerio | I586 | CQKQLIDLCCL | 1 | Gallus gallus | I586 | CQRELIDLCCL | 1 | Bos taurus | L517 | AFIVTLTGNLS | 3 | Homo sapiens, Mus musculus, Bos taurus | L517 | AFIVTLVGNLR | 1 | Danio rerio | L517 | CFIVTLTGNLT | 1 | Gallus gallus | L521 | TLTGNLSSSGG | 3 | Homo sapiens, Mus musculus, Bos taurus | L521 | TLVGNLRISGG | 1 | Danio rerio | L521 | TLTGNLTSSNG | 1 | Gallus gallus | L578 | KFLEGLQKCQR | 2 | Homo sapiens, Bos taurus | L578 | EVDSGIQHCQR | 1 | Danio rerio | L578 | KLKDGLERCQK | 1 | Gallus gallus | L578 | TFLEGLQKCQR | 1 | Mus musculus | L585 | KCQRDLIDLCC | 2 | Homo sapiens, Mus musculus | L585 | HCQRELVDMCC | 1 | Danio rerio | L585 | RCQKQLIDLCC | 1 | Gallus gallus | L585 | KCQRELIDLCC | 1 | Bos taurus | M561 | FSVPEMKQSKK | 1 | Homo sapiens | M561 | FSAAETRVLRK | 1 | Danio rerio | M561 | FSVPEMHTLRK | 1 | Gallus gallus | M561 | YSVPEMKQLRK | 1 | Mus musculus | M561 | FSVSEMKRLKK | 1 | Bos taurus | N520 | VTLTGNLSSSG | 3 | Homo sapiens, Mus musculus, Bos taurus | N520 | VTLVGNLRISG | 1 | Danio rerio | N520 | VTLTGNLTSSN | 1 | Gallus gallus | T516 | KAFIVTLTGNL | 3 | Homo sapiens, Mus musculus, Bos taurus | T516 | QAFIVTLVGNL | 1 | Danio rerio | T516 | KCFIVTLTGNL | 1 | Gallus gallus | V515 | VKAFIVTLTGN | 3 | Homo sapiens, Mus musculus, Bos taurus | V515 | LQAFIVTLVGN | 1 | Danio rerio | V515 | VKCFIVTLTGN | 1 | Gallus gallus |
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