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 POT1
Gene summary
Basic gene Info.Gene symbolPOT1
Gene nameprotection of telomeres 1
SynonymsCMM10|HPOT1
CytomapUCSC genome browser: 7q31.33
Type of geneprotein-coding
RefGenesNM_001042594.1,
NM_015450.2,NR_003102.1,NR_003103.1,NR_003104.1,
DescriptionPOT1-like telomere end-binding proteinprotection of telomeres 1 homologprotection of telomeres protein 1
Modification date20141207
dbXrefs MIM : 606478
HGNC : HGNC
Ensembl : ENSG00000128513
HPRD : 07572
Vega : OTTHUMG00000157194
ProteinUniProt: Q9NUX5
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_POT1
BioGPS: 25913
PathwayNCI Pathway Interaction Database: POT1
KEGG: POT1
REACTOME: POT1
Pathway Commons: POT1
ContextiHOP: POT1
ligand binding site mutation search in PubMed: POT1
UCL Cancer Institute: POT1
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:0007004telomere maintenance via telomerase12768206
GO:0032203telomere formation via telomerase16043710
GO:0032508DNA duplex unwinding16030011
GO:0051096positive regulation of helicase activity16030011
GO:0051973positive regulation of telomerase activity16043710
GO:0051974negative regulation of telomerase activity15632080
GO:0060383positive regulation of DNA strand elongation16043710


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Ligand binding site mutations for POT1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
Y89Y89CLUAD1
L60C59SLUAD1
Q94G95CLUAD1
Y161D163YLUAD1
D224D224HLUAD1
R273,Y271G272VLUSC1
H245T246SLUSC1
K33P34LSKCM1
Y89,Q87V88ASKCM1
H245H245YSKCM1
R273R273WSTAD1
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 POT1
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
Q87V88A-1.9545706
Y89V88A-1.9545706
R273G272V-1.051409
Y271G272V-1.051409
D224D224H-0.95886416
Q94G95C-0.80042647
Y161D163Y-0.79889399
L60C59S-0.77702043
Y89Y89C-0.69823976
R273R273W-0.570343
H245T246S-0.50719461
H245H245Y-0.37903745
K33P34L-0.16898202
(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 POT1 from PDB

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Differential gene expression and gene-gene network for POT1
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 POT1 and the right PPI network was created from samples without mutations in the LBS of POT1. 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 POT1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0025202Melanoma4Biomarker, GeneticVariation
umls:C0023448Leukemia, Lymphoid2Biomarker
umls:C0008625Chromosome Aberrations1Biomarker
umls:C0008626Chromosome Disorders1Biomarker
umls:C0037286Skin Neoplasms1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
143164Y89Crisk factorGermlineMedGen:CN189144
OMIM:615848
Orphanet:ORPHA618
205690G95Crisk factorGermlineMedGen:CN232947
OMIM:616568

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Pharmacological information for POT1
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 POT1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids1xjvAK33 L60 Q87 Y89 Q94 Y161 D224 H245 Y271 R273
NUCNucleic Acids3kjoAK33 L60 Q87 Y89 Q94 Y161 D224 H245 Y271 R273
NUCNucleic Acids3kjpAK33 L60 Q87 Y89 Q94 Y161 D224 H245 Y271 R273


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Conservation information for LBS of POT1
Multiple alignments for Q9NUX5 in multiple species
LBSAA sequence# speciesSpecies
C44KGTDYCSVVTI2Homo sapiens, Mus musculus
C44KGTDYCSVVTL1Gallus gallus
D224DILVYDNHVHV1Homo sapiens
D224DVLVYDNHVQL1Gallus gallus
D224DILVYDNHVQV1Mus musculus
D42LSKGTDYCSVV1Homo sapiens
D42ISKGTDYCSVV1Gallus gallus
D42VSKGTDYCSVV1Mus musculus
F31YGVVKFFKPPY2Homo sapiens, Mus musculus
F31YGIVKFFKPPY1Gallus gallus
F62LTCLLFSGNYE1Homo sapiens
F62LTCTLFNGNLD1Gallus gallus
F62LTCMLFSGNYE1Mus musculus
G267EFHLHGGTSYG2Homo sapiens, Mus musculus
G267EFHLHGGTCYG1Gallus gallus
G40PYLSKGTDYCS1Homo sapiens
G40PYISKGTDYCS1Gallus gallus
G40PYVSKGTDYCS1Mus musculus
H245RIYSLHTKLQS1Homo sapiens
H245RIYSIHTKQAS1Gallus gallus
H245RLYSLHTKLQP1Mus musculus
H266LEFHLHGGTSY2Homo sapiens, Mus musculus
H266IEFHLHGGTCY1Gallus gallus
K33VVKFFKPPYLS1Homo sapiens
K33IVKFFKPPYIS1Gallus gallus
K33VVKFFKPPYVS1Mus musculus
K39PPYLSKGTDYC1Homo sapiens
K39PPYISKGTDYC1Gallus gallus
K39PPYVSKGTDYC1Mus musculus
L60VKLTCLLFSGN1Homo sapiens
L60VKLTCTLFNGN1Gallus gallus
L60VKLTCMLFSGN1Mus musculus
Q87HRLKIQVYKKE1Homo sapiens
Q87HRVKIREYNGQ1Gallus gallus
Q87HRLKIQVYKNE1Mus musculus
Q94YKKETQGITSS1Homo sapiens
Q94YNGQMQGITSA1Gallus gallus
Q94YKNELQGINCS1Mus musculus
R273GTSYGRGIRVL2Homo sapiens, Mus musculus
R273GTCYGRGIGIL1Gallus gallus
S243FLRIYSLHTKL1Homo sapiens
S243FLRIYSIHTKQ1Gallus gallus
S243FLRLYSLHTKL1Mus musculus
S270LHGGTSYGRGI2Homo sapiens, Mus musculus
S270LHGGTCYGRGI1Gallus gallus
S38KPPYLSKGTDY1Homo sapiens
S38KPPYISKGTDY1Gallus gallus
S38KPPYVSKGTDY1Mus musculus
T41YLSKGTDYCSV1Homo sapiens
T41YISKGTDYCSV1Gallus gallus
T41YVSKGTDYCSV1Mus musculus
T48YCSVVTIVDQT2Homo sapiens, Mus musculus
T48YCSVVTLVDQS1Gallus gallus
V46TDYCSVVTIVD2Homo sapiens, Mus musculus
V46TDYCSVVTLVD1Gallus gallus
Y161VQPMQYFDLTC1Homo sapiens
Y161VKPMMFFDLTC1Gallus gallus
Y161AQPMQYYDLTC1Mus musculus
Y223IDILVYDNHVH1Homo sapiens
Y223VDVLVYDNHVQ1Gallus gallus
Y223VDILVYDNHVQ1Mus musculus
Y271HGGTSYGRGIR2Homo sapiens, Mus musculus
Y271HGGTCYGRGIG1Gallus gallus
Y36FFKPPYLSKGT1Homo sapiens
Y36FFKPPYISKGT1Gallus gallus
Y36FFKPPYVSKGT1Mus musculus
Y89LKIQVYKKETQ1Homo sapiens
Y89VKIREYNGQMQ1Gallus gallus
Y89LKIQVYKNELQ1Mus musculus


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