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 ERI1
Gene summary
Basic gene Info.Gene symbolERI1
Gene nameexoribonuclease 1
Synonyms3'HEXO|HEXO|THEX1
CytomapUCSC genome browser: 8p23.1
Type of geneprotein-coding
RefGenesNM_153332.3,
Description3' exoribonuclease3'-5' exonuclease ERI13'-5' exoribonuclease 1Eri-1 homologenhanced RNAi three prime mRNA exonuclease homolog 1histone mRNA 3' end-specific exonucleasehistone mRNA 3'-end-specific exoribonucleasehistone mRNA 3'-exonuclease 1protei
Modification date20141215
dbXrefs MIM : 608739
HGNC : HGNC
Ensembl : ENSG00000104626
HPRD : 11784
Vega : OTTHUMG00000129328
ProteinUniProt: Q8IV48
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ERI1
BioGPS: 90459
PathwayNCI Pathway Interaction Database: ERI1
KEGG: ERI1
REACTOME: ERI1
Pathway Commons: ERI1
ContextiHOP: ERI1
ligand binding site mutation search in PubMed: ERI1
UCL Cancer Institute: ERI1
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


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Ligand binding site mutations for ERI1
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
Y66P64QLUAD1
F185F185LLUSC1
F238F238LSKCM1
N143P145LSTAD1
Y66V65FUCEC1
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 ERI1
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
Y66V65F-1.5957756
Y66P64Q-1.1365899
F185F185L-1.0803245
F238F238L-1.0035514
N143P145L-0.50048796
(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 ERI1 from PDB

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Differential gene expression and gene-gene network for ERI1
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 ERI1 and the right PPI network was created from samples without mutations in the LBS of ERI1. 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 ERI1
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 ERI1
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 ERI1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
AMPAMP1w0hAF185 F238
AMPAMP1zbhAN143 F185 F238
AMPAMP1zbhBN143 F185 F238
AMPAMP1zbhCN143 F185 F238
AMPAMP1zbhDN143 F185 F238
AMPAMP1zbuAN143 F185 F238
AMPAMP1zbuBN143 F185 F238
AMPAMP1zbuCN143 F185 F238
AMPAMP1zbuDN143 F185 F238
NUCNucleic Acids1zbhAY66
NUCNucleic Acids1zbhDY66
NUCNucleic Acids4hxhBY66 N143 F185 F238
NUCNucleic Acids4hxhEY66 N143 F185 F238
NUCNucleic Acids4l8rBY66 N143 F185 F238
NUCNucleic Acids4l8rEY66 N143 F185 F238
NUCNucleic Acids4qozBY66 N143 F185 F238
NUCNucleic Acids4qozEY66 N143 F185 F238


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Conservation information for LBS of ERI1
Multiple alignments for Q8IV48 in multiple species
LBSAA sequence# speciesSpecies
A137IIDFEATCEEG3Homo sapiens, Mus musculus, Rattus norvegicus
A137AIDFECTCVE-1Caenorhabditis elegans
A137IVDVEATCEEG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A70VYKEIAMTNGC2Mus musculus, Rattus norvegicus
A70VYKEIAITNGC1Homo sapiens
A70EYVKKVIRQ--1Caenorhabditis elegans
A70-----------1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C139DFEATCEEGNP3Homo sapiens, Mus musculus, Rattus norvegicus
C139DFECTCVE-II1Caenorhabditis elegans
C139DVEATCEEGCG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D134YICIIDFEATC3Homo sapiens, Mus musculus, Rattus norvegicus
D134YLIAIDFECTC1Caenorhabditis elegans
D134YLLIVDVEATC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D230YCILTDGSWDM2Mus musculus, Rattus norvegicus
D230YSLLTDGSWDM1Homo sapiens
D230FAFVTDGPHDM1Caenorhabditis elegans
D230WAWACDGPWDM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D234TDGSWDMSKFL3Homo sapiens, Mus musculus, Rattus norvegicus
D234TDGPHDMWKFM1Caenorhabditis elegans
D234CDGPWDMASFL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D298HSGLDDSKNIA2Mus musculus, Rattus norvegicus
D298HCGLDDSKNIA1Homo sapiens
D298HSGLDDATNIA1Caenorhabditis elegans
D298HRGIDDARNLS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E136CIIDFEATCEE3Homo sapiens, Mus musculus, Rattus norvegicus
E136IAIDFECTCVE1Caenorhabditis elegans
E136LIVDVEATCEE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E140FEATCEEGNPA2Mus musculus, Rattus norvegicus
E140FEATCEEGNPP1Homo sapiens
E140FECTCVE-IIY1Caenorhabditis elegans
E140VEATCEEGCGF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F135ICIIDFEATCE3Homo sapiens, Mus musculus, Rattus norvegicus
F135LIAIDFECTCV1Caenorhabditis elegans
F135LLIVDVEATCE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F185TQLSDFCISLT1Homo sapiens
F185PKLSEFCMQFT1Caenorhabditis elegans
F185PTLSDYCKSLT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F185AQLSEFCIGLT1Mus musculus
F185SQLSEFCIGLT1Rattus norvegicus
F238WDMSKFLNIQC2Homo sapiens, Rattus norvegicus
F238HDMWKFMQFQC1Caenorhabditis elegans
F238WDMASFLAKQF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F238WDMSKFLSIQC1Mus musculus
F61D----FSDPVY3Homo sapiens, Mus musculus, Rattus norvegicus
F61EPLKSMVEPEY1Caenorhabditis elegans
F61-----------1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G231CILTDGSWDMS2Mus musculus, Rattus norvegicus
G231SLLTDGSWDMS1Homo sapiens
G231AFVTDGPHDMW1Caenorhabditis elegans
G231AWACDGPWDMA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G74IAMTNGCINRM2Mus musculus, Rattus norvegicus
G74IAITNGCINRM1Homo sapiens
G74KVIRQ--MDTM1Caenorhabditis elegans
G74-----------1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H293YDGRPHSGLDD2Mus musculus, Rattus norvegicus
H293YDGRPHCGLDD1Homo sapiens
H293FVGNKHSGLDD1Caenorhabditis elegans
H293FEGSEHRGIDD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I69PVYKEIAMTNG2Mus musculus, Rattus norvegicus
I69PVYKEIAITNG1Homo sapiens
I69PEYVKKVIRQ-1Caenorhabditis elegans
I69-----------1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I71YKEIAMTNGCI2Mus musculus, Rattus norvegicus
I71YKEIAITNGCI1Homo sapiens
I71YVKKVIRQ--M1Caenorhabditis elegans
I71-----------1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K104KDVLKKRLKNY3Homo sapiens, Mus musculus, Rattus norvegicus
K104KKTLRKRVAQY1Caenorhabditis elegans
K104KEKLKRRWK--1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K107LKKRLKNYYKK3Homo sapiens, Mus musculus, Rattus norvegicus
K107LRKRVAQYYRK1Caenorhabditis elegans
K107LKRRWK--FRE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K111LKNYYKKQKLM3Homo sapiens, Mus musculus, Rattus norvegicus
K111VAQYYRKENAL1Caenorhabditis elegans
K111WK--FREKRLE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K262WINIRKSYGNF3Homo sapiens, Mus musculus, Rattus norvegicus
K262FINIKKTFKEK1Caenorhabditis elegans
K262FVDIRSFYKDV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K269YGNFYK---VP3Homo sapiens, Mus musculus, Rattus norvegicus
K269FKEKFNGLIKG1Caenorhabditis elegans
K269YKDVYR---VP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K276PRSQTKLTIML3Homo sapiens, Mus musculus, Rattus norvegicus
K276GNGKSGIENML1Caenorhabditis elegans
K276PR--TNINGML1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K67SDPVYKEIAMT2Mus musculus, Rattus norvegicus
K67SDPVYKEIAIT1Homo sapiens
K67VEPEYVKKVIR1Caenorhabditis elegans
K67-----------1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L189EFCIGLTGITQ2Mus musculus, Rattus norvegicus
L189DFCISLTGITQ1Homo sapiens
L189EFCMQFTKIAQ1Caenorhabditis elegans
L189DYCKSLTGIQQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N143TCEEGNPAEFL2Mus musculus, Rattus norvegicus
N143TCEEGNPPEFV1Homo sapiens
N143TCVE-IIYDYP1Caenorhabditis elegans
N143TCEEGCGFSFE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N266RKSYGNFYK--3Homo sapiens, Mus musculus, Rattus norvegicus
N266KKTFKEKFNGL1Caenorhabditis elegans
N266RSFYKDVYR--1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N73EIAMTNGCINR2Mus musculus, Rattus norvegicus
N73EIAITNGCINR1Homo sapiens
N73KKVIRQ--MDT1Caenorhabditis elegans
N73-----------1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N77TNGCINRMSKE3Homo sapiens, Mus musculus, Rattus norvegicus
N77RQ--MDTMTAE1Caenorhabditis elegans
N77---------VE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P271K---VPRSQTK3Homo sapiens, Mus musculus, Rattus norvegicus
P271NGLIKGNGKSG1Caenorhabditis elegans
P271R---VPR--TN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q274-VPRSQTKLTI3Homo sapiens, Mus musculus, Rattus norvegicus
Q274IKGNGKSGIEN1Caenorhabditis elegans
Q274-VPR--TNING1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R261KWINIRKSYGN3Homo sapiens, Mus musculus, Rattus norvegicus
R261SFINIKKTFKE1Caenorhabditis elegans
R261PFVDIRSFYKD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R272---VPRSQTKL3Homo sapiens, Mus musculus, Rattus norvegicus
R272GLIKGNGKSGI1Caenorhabditis elegans
R272---VPR--TNI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R317DGCELRINEK-3Homo sapiens, Mus musculus, Rattus norvegicus
R317LKIELRINQKC1Caenorhabditis elegans
R317ENVEFECNRW-1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R78NGCINRMSKEE3Homo sapiens, Mus musculus, Rattus norvegicus
R78Q--MDTMTAEQ1Caenorhabditis elegans
R78--------VEE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S232ILTDGSWDMSK2Mus musculus, Rattus norvegicus
S232LLTDGSWDMSK1Homo sapiens
S232FVTDGPHDMWK1Caenorhabditis elegans
S232WACDGPWDMAS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S329GGQLMSVSSSL2Mus musculus, Rattus norvegicus
S329AGQLMSVSSSL1Homo sapiens
S329IGEIKSYQTAR1Caenorhabditis elegans
S329E---YEKNGWI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S332LMSVSSSLPV-2Mus musculus, Rattus norvegicus
S332LMSVSSSLPI-1Homo sapiens
S332IKSYQTARPII1Caenorhabditis elegans
S332-YEKNGWIPN-1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T138IDFEATCEEGN3Homo sapiens, Mus musculus, Rattus norvegicus
T138IDFECTCVE-I1Caenorhabditis elegans
T138VDVEATCEEGC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T190FCIGLTGITQD2Mus musculus, Rattus norvegicus
T190FCISLTGITQD1Homo sapiens
T190FCMQFTKIAQE1Caenorhabditis elegans
T190YCKSLTGIQQC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T275VPRSQTKLTIM3Homo sapiens, Mus musculus, Rattus norvegicus
T275KGNGKSGIENM1Caenorhabditis elegans
T275VPR--TNINGM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W233LTDGSWDMSKF3Homo sapiens, Mus musculus, Rattus norvegicus
W233VTDGPHDMWKF1Caenorhabditis elegans
W233ACDGPWDMASF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y66FSDPVYKEIAM2Mus musculus, Rattus norvegicus
Y66FSDPVYKEIAI1Homo sapiens
Y66MVEPEYVKKVI1Caenorhabditis elegans
Y66-----------1Schizosaccharomyces pombe (strain 972 / ATCC 24843)


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