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 REV1
Gene summary
Basic gene Info.Gene symbolREV1
Gene nameREV1, polymerase (DNA directed)
SynonymsREV1L
CytomapUCSC genome browser: 2q11.1-q11.2
Type of geneprotein-coding
RefGenesNM_001037872.1,
NM_016316.2,
DescriptionAIBP80DNA repair protein REV1REV1 homologREV1- likealpha integrin-binding protein 80rev1-like terminal deoxycytidyl transferase
Modification date20141207
dbXrefs MIM : 606134
HGNC : HGNC
Ensembl : ENSG00000135945
HPRD : 16202
Vega : OTTHUMG00000130636
ProteinUniProt: Q9UBZ9
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_REV1
BioGPS: 51455
PathwayNCI Pathway Interaction Database: REV1
KEGG: REV1
REACTOME: REV1
Pathway Commons: REV1
ContextiHOP: REV1
ligand binding site mutation search in PubMed: REV1
UCL Cancer Institute: REV1
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:0009411response to UV11485998


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Ligand binding site mutations for REV1
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
D1167N1166SBLCA1
S568,D570C569YKICH1
M656S658FLUSC1
P456L457SSTAD1
V567A566TSTAD1
A1162A1162TUCEC1
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 REV1
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
D1167N1166S-1.0540783
V567A566T-1.0342041
P456L457S-0.86648976
A1162A1162T-0.60929505
S568C569Y-0.25597493
D570C569Y-0.25597493
M656S658F-0.24810344
(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 REV1 from PDB

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Differential gene expression and gene-gene network for REV1
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 REV1 and the right PPI network was created from samples without mutations in the LBS of REV1. 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 REV1
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 REV1
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 REV1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (GLN,SER,THR,GLY,THR,GLU,PRO,PHE,PHE,LYS,GLN,LYS,SER,LEU,LEU,LEU)2lskAA1162
IIIPeptide ligand (GLY,SER,HIS,LYS,LYS,SER,PHE,PHE,ASP,LYS,LYS,ARG,SER,GLU,ARG,LYS,TRP)2lsiAA1162 D1167
DCPDCTP3gqcAD570
MGMAGNESIUM(2+)3gqcAD570
DCPDCTP3gqcBD570
MGMAGNESIUM(2+)3gqcBD570
DCPDCTP3gqcCD570
MGMAGNESIUM(2+)3gqcCD570
DCPDCTP3gqcDD570
MGMAGNESIUM(2+)3gqcDD570
MGMAGNESIUM(2+)3gqcDD570
NUCNucleic Acids3gqcAP456
NUCNucleic Acids3gqcBP456
NUCNucleic Acids3gqcCP456
NUCNucleic Acids3gqcDP456
MGMAGNESIUM(2+)3gqcAS568 D570
MGMAGNESIUM(2+)3gqcCS568 D570
NUCNucleic Acids3gqcAS568 M656
NUCNucleic Acids3gqcCS568 M656
NUCNucleic Acids3gqcDS568 M656
NUCNucleic Acids3gqcBV567 S568 M656


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Conservation information for LBS of REV1
Multiple alignments for Q9UBZ9 in multiple species
LBSAA sequence# speciesSpecies
A1160PAPNLAGAVEF1Homo sapiens
A1160QAPNLAGAVEF1Gallus gallus
A1160AAPNLAGAVEF1Mus musculus
A1162PNLAGAVEFND2Homo sapiens, Gallus gallus
A1162PNLAGAVEFSD1Mus musculus
A455RGTGRAPLRPG1Homo sapiens
A455RGAGKAPLRPG1Gallus gallus
A455RGTGTAPLRPG1Mus musculus
A506SVLSRAEIASC1Homo sapiens
A506TVLSMAEIASC1Gallus gallus
A506SVLSKAEIASC1Mus musculus
A509SRAEIASCSYE1Homo sapiens
A509SMAEIASCSYE1Gallus gallus
A509SKAEIASCSYE1Mus musculus
A714RKSVSAEINYG3Homo sapiens, Gallus gallus, Mus musculus
A781ICDNIARTVTL3Homo sapiens, Gallus gallus, Mus musculus
C366ISTWKCELTEF2Gallus gallus, Mus musculus
C366ISMWKCELTEF1Homo sapiens
C426HVDMDCFFVSV3Homo sapiens, Gallus gallus, Mus musculus
D1167AVEFNDVKTLL2Homo sapiens, Gallus gallus
D1167AVEFSDVKTLL1Mus musculus
D1181ITTISDPMEED3Homo sapiens, Gallus gallus, Mus musculus
D1186DPMEEDILQVV3Homo sapiens, Gallus gallus, Mus musculus
D1230WNMAFDFILDN3Homo sapiens, Gallus gallus, Mus musculus
D1234FDFILDNVQVV3Homo sapiens, Gallus gallus, Mus musculus
D423CIMHVDMDCFF2Homo sapiens, Gallus gallus
D423CVMHVDMDCFF1Mus musculus
D425MHVDMDCFFVS3Homo sapiens, Gallus gallus, Mus musculus
D570EAVSCDEALVD2Homo sapiens, Gallus gallus
D570EAVSCDEALID1Mus musculus
E1174KTLLKEWITTI2Gallus gallus, Mus musculus
E1174KTLLREWITTI1Homo sapiens
E1185SDPMEEDILQV3Homo sapiens, Gallus gallus, Mus musculus
E507VLSRAEIASCS1Homo sapiens
E507VLSMAEIASCS1Gallus gallus
E507VLSKAEIASCS1Mus musculus
E571AVSCDEALVDI2Homo sapiens, Gallus gallus
E571AVSCDEALIDV1Mus musculus
E708VRTEKERKSVS3Homo sapiens, Gallus gallus, Mus musculus
E715KSVSAEINYGI3Homo sapiens, Gallus gallus, Mus musculus
F352NFISNFYSHSR1Homo sapiens
F352SFISDFYSRSR1Gallus gallus
F352NFISDFYSRSR1Mus musculus
F427VDMDCFFVSVG2Homo sapiens, Mus musculus
F427VDMDCFFVSVA1Gallus gallus
F428DMDCFFVSVGI2Homo sapiens, Mus musculus
F428DMDCFFVSVAI1Gallus gallus
F683KLQKEFGPKTG3Homo sapiens, Gallus gallus, Mus musculus
F771VETAKFGGHGI1Homo sapiens
F771VEPAKYGGHGI1Gallus gallus
F771IETAKFGGHGI1Mus musculus
G1161APNLAGAVEFN2Homo sapiens, Gallus gallus
G1161APNLAGAVEFS1Mus musculus
G651VTNLPGVGRSM2Gallus gallus, Mus musculus
G651VTNLPGVGHSM1Homo sapiens
G653NLPGVGRSMES2Gallus gallus, Mus musculus
G653NLPGVGHSMES1Homo sapiens
G684LQKEFGPKTGQ3Homo sapiens, Gallus gallus, Mus musculus
G773TAKFGGHGICD2Homo sapiens, Mus musculus
G773PAKYGGHGICD1Gallus gallus
G775KFGGHGICDNI2Homo sapiens, Mus musculus
G775KYGGHGICDNI1Gallus gallus
H355SDFYSRSRLHH2Gallus gallus, Mus musculus
H355SNFYSHSRLHH1Homo sapiens
H359SRSRLHHISTW2Gallus gallus, Mus musculus
H359SHSRLHHISMW1Homo sapiens
H654LPGVGRSMESK2Gallus gallus, Mus musculus
H654LPGVGHSMESK1Homo sapiens
H774AKFGGHGICDN2Homo sapiens, Mus musculus
H774AKYGGHGICDN1Gallus gallus
I1179EWITTISDPME3Homo sapiens, Gallus gallus, Mus musculus
I361SRLHHISTWKC2Gallus gallus, Mus musculus
I361SRLHHISMWKC1Homo sapiens
I716SVSAEINYGIR3Homo sapiens, Gallus gallus, Mus musculus
K625ATRKAKPDGQY2Homo sapiens, Gallus gallus
K625ATKKAKPDGQY1Mus musculus
K686KEFGPKTGQML3Homo sapiens, Gallus gallus, Mus musculus
K710TEKERKSVSAE3Homo sapiens, Gallus gallus, Mus musculus
K770PVETAKFGGHG1Homo sapiens
K770PVEPAKYGGHG1Gallus gallus
K770PIETAKFGGHG1Mus musculus
L1159PPAPNLAGAVE1Homo sapiens
L1159PQAPNLAGAVE1Gallus gallus
L1159PAAPNLAGAVE1Mus musculus
L1171NDVKTLLREWI1Homo sapiens
L1171NDVKTLLKEWI1Gallus gallus
L1171SDVKTLLKEWI1Mus musculus
L1172DVKTLLKEWIT2Gallus gallus, Mus musculus
L1172DVKTLLREWIT1Homo sapiens
L358YSRSRLHHIST2Gallus gallus, Mus musculus
L358YSHSRLHHISM1Homo sapiens
L649QLVTNLPGVGR2Gallus gallus, Mus musculus
L649QLVTNLPGVGH1Homo sapiens
M1183TISDPMEEDIL3Homo sapiens, Gallus gallus, Mus musculus
M424IMHVDMDCFFV2Homo sapiens, Gallus gallus
M424VMHVDMDCFFV1Mus musculus
M656GVGRSMESKLA2Gallus gallus, Mus musculus
M656GVGHSMESKLA1Homo sapiens
N1158RPPAPNLAGAV1Homo sapiens
N1158RPQAPNLAGAV1Gallus gallus
N1158RPAAPNLAGAV1Mus musculus
N351CNFISNFYSHS1Homo sapiens
N351CSFISDFYSRS1Gallus gallus
N351CNFISDFYSRS1Mus musculus
N449VAVTSNRGTGR1Homo sapiens
N449VAVTSNRGAGK1Gallus gallus
N449VAVTSNRGTGT1Mus musculus
N522QLGIKNGMFFG1Homo sapiens
N522QAGIKNGMFFG1Gallus gallus
N522QVGIKNGMFFG1Mus musculus
N648GQLVTNLPGVG3Homo sapiens, Gallus gallus, Mus musculus
N717VSAEINYGIRF3Homo sapiens, Gallus gallus, Mus musculus
N779HGICDNIARTV3Homo sapiens, Gallus gallus, Mus musculus
P1182TTISDPMEEDI3Homo sapiens, Gallus gallus, Mus musculus
P456GTGRAPLRPGA1Homo sapiens
P456GAGKAPLRPGA1Gallus gallus
P456GTGTAPLRPGA1Mus musculus
P650LVTNLPGVGRS2Gallus gallus, Mus musculus
P650LVTNLPGVGHS1Homo sapiens
P685QKEFGPKTGQM3Homo sapiens, Gallus gallus, Mus musculus
Q1189EEDILQVVKYC2Homo sapiens, Gallus gallus
Q1189EEDILQVVRYC1Mus musculus
R357FYSRSRLHHIS2Gallus gallus, Mus musculus
R357FYSHSRLHHIS1Homo sapiens
R505-SVLSRAEIAS1Homo sapiens
R505LTVLSMAEIAS1Gallus gallus
R505-SVLSKAEIAS1Mus musculus
R516CSYEARQLGIK1Homo sapiens
R516CSYEARQAGIK1Gallus gallus
R516CSYEARQVGIK1Mus musculus
R618NILLARMATRK2Homo sapiens, Gallus gallus
R618NILLARMATKK1Mus musculus
R709RTEKERKSVSA3Homo sapiens, Gallus gallus, Mus musculus
R742EEIQRRLEAAG2Gallus gallus, Mus musculus
R742EEIQRRLEATG1Homo sapiens
R752GMKGKRLTLKI3Homo sapiens, Gallus gallus, Mus musculus
S356DFYSRSRLHHI2Gallus gallus, Mus musculus
S356NFYSHSRLHHI1Homo sapiens
S362RLHHISTWKCE2Gallus gallus, Mus musculus
S362RLHHISMWKCE1Homo sapiens
S448PVAVTSNRGTG2Homo sapiens, Mus musculus
S448PVAVTSNRGAG1Gallus gallus
S504--SVLSRAEIA1Homo sapiens
S504DLTVLSMAEIA1Gallus gallus
S504--SVLSKAEIA1Mus musculus
S510RAEIASCSYEA1Homo sapiens
S510MAEIASCSYEA1Gallus gallus
S510KAEIASCSYEA1Mus musculus
S568NIEAVSCDEAL2Homo sapiens, Gallus gallus
S568SIEAVSCDEAL1Mus musculus
S655PGVGRSMESKL2Gallus gallus, Mus musculus
S655PGVGHSMESKL1Homo sapiens
S711EKERKSVSAEI3Homo sapiens, Gallus gallus, Mus musculus
S713ERKSVSAEINY3Homo sapiens, Gallus gallus, Mus musculus
T447KPVAVTSNRGT2Homo sapiens, Mus musculus
T447KPVAVTSNRGA1Gallus gallus
T647RGQLVTNLPGV3Homo sapiens, Gallus gallus, Mus musculus
T687EFGPKTGQMLY3Homo sapiens, Gallus gallus, Mus musculus
T783DNIARTVTLDQ2Homo sapiens, Mus musculus
T783DNIARTVTLDH1Gallus gallus
V1190EDILQVVKYCT2Homo sapiens, Gallus gallus
V1190EDILQVVRYCT1Mus musculus
V567HNIEAVSCDEA2Homo sapiens, Gallus gallus
V567HSIEAVSCDEA1Mus musculus
V652TNLPGVGRSME2Gallus gallus, Mus musculus
V652TNLPGVGHSME1Homo sapiens
W1175TLLKEWITTIS2Gallus gallus, Mus musculus
W1175TLLREWITTIS1Homo sapiens
Y353FISDFYSRSRL2Gallus gallus, Mus musculus
Y353FISNFYSHSRL1Homo sapiens
Y513IASCSYEARQL1Homo sapiens
Y513IASCSYEARQA1Gallus gallus
Y513IASCSYEARQV1Mus musculus
Y541LQAVPYDFHAY1Homo sapiens
Y541LQAVSYDFNAY1Gallus gallus
Y541LQAVPYDFHAC1Mus musculus
Y718SAEINYGIRFT3Homo sapiens, Gallus gallus, Mus musculus


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