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 APRT
Gene summary
Basic gene Info.Gene symbolAPRT
Gene nameadenine phosphoribosyltransferase
SynonymsAMP|APRTD
CytomapUCSC genome browser: 16q24
Type of geneprotein-coding
RefGenesNM_000485.2,
NM_001030018.1,
DescriptionAMP diphosphorylaseAMP pyrophosphorylasetransphosphoribosidase
Modification date20141219
dbXrefs MIM : 102600
HGNC : HGNC
Ensembl : ENSG00000198931
HPRD : 00029
Vega : OTTHUMG00000175454
ProteinUniProt: P07741
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_APRT
BioGPS: 353
PathwayNCI Pathway Interaction Database: APRT
KEGG: APRT
REACTOME: APRT
Pathway Commons: APRT
ContextiHOP: APRT
ligand binding site mutation search in PubMed: APRT
UCL Cancer Institute: APRT
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 APRT

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R87R87GSKCM1
K88R89WSTAD1
T132T132ASTAD1
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 APRT
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
R87R87G-1.5782597
T132T132A-1.4970966
K88R89W-0.53150121
(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 APRT from PDB

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Differential gene expression and gene-gene network for APRT
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 APRT and the right PPI network was created from samples without mutations in the LBS of APRT. 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 APRT
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C3665382ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY24AlteredExpression, Biomarker, GeneticVariation
umls:C0268120Adenine phosphoribosyltransferase deficiency10Biomarker, GeneticVariation
umls:C0451641Urolithiasis5Biomarker
umls:C1458155Breast Neoplasms4Biomarker
umls:C0007134Carcinoma, Renal Cell3Biomarker

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

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Pharmacological information for APRT
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|nutraceuticalDB00173AdenineSmall molecule
ExperimentalDB01632Alpha-Phosphoribosylpyrophosphoric AcidSmall molecule
ExperimentalDB035069-DeazaadenineSmall molecule
Nutraceutical|vet_approvedDB04272Citric AcidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of APRT go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
PRP5-O-PHOSPHONO-ALPHA-D-RIBOFURANOSYL DIPHOSPHATE1zn7AK88 T132
PRP5-O-PHOSPHONO-ALPHA-D-RIBOFURANOSYL DIPHOSPHATE1zn7AR87
PRP5-O-PHOSPHONO-ALPHA-D-RIBOFURANOSYL DIPHOSPHATE1zn7BR87
AMPAMP1oreAT132
HSXALPHA-D-RIBOSE 5-PHOSPHATE1zn7AT132
PRP5-O-PHOSPHONO-ALPHA-D-RIBOFURANOSYL DIPHOSPHATE1zn7BT132
HSXALPHA-D-RIBOSE 5-PHOSPHATE1zn7BT132
AMPAMP1zn8AT132
AMPAMP1zn8BT132
AMPAMP1zn9BT132
AMPAMP4x44AT132
AMPAMP4x45BT132


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Conservation information for LBS of APRT
Multiple alignments for P07741 in multiple species
LBSAA sequence# speciesSpecies
A131VDDLLATGGTM4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
A131VDDIIATGGSA2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
A131IDDLIATGGTL1Arabidopsis thaliana
A131IDDLLATGGTL1Caenorhabditis elegans
A131VDDILATGGTA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A131VDDILATGGSA1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
A131VDDLLATGGSL1Drosophila melanogaster
D127KVVVVDDLLAT2Drosophila melanogaster, Bos taurus
D127RVVVVDDLLAT1Homo sapiens
D127RAIIIDDLIAT1Arabidopsis thaliana
D127IVFLIDDLLAT1Caenorhabditis elegans
D127RVLIVDDILAT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D127NVIIVDDIIAT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D127NVVIVDDIIAT1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
D127TVVVVDDILAT1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
D127RVVIVDDLLAT1Mus musculus
D127KVVIVDDLLAT1Rattus norvegicus
D128VVVVDDLLATG3Homo sapiens, Drosophila melanogaster, Bos taurus
D128VVIVDDLLATG2Mus musculus, Rattus norvegicus
D128AIIIDDLIATG1Arabidopsis thaliana
D128VFLIDDLLATG1Caenorhabditis elegans
D128VLIVDDILATG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D128VIIVDDIIATG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D128VVIVDDIIATG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
D128VVVVDDILATG1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
F26IPGVLFRDISP3Bos taurus, Mus musculus, Rattus norvegicus
F26TPGVVFRDISP1Homo sapiens
F26KPGIMFQDITT1Arabidopsis thaliana
F26KKGINFRDIMP1Caenorhabditis elegans
F26KKGILFEDIMP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F26SEGILFEDFLP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F26QEGILFEDFLP1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
F26KEGVLFEDFLP1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
F26KEGILFRDIFG1Drosophila melanogaster
G133DLLATGGTMCA2Bos taurus, Rattus norvegicus
G133DLLATGGTMNA1Homo sapiens
G133DLIATGGTLAA1Arabidopsis thaliana
G133DLLATGGTLRA1Caenorhabditis elegans
G133DILATGGTALA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G133DIIATGGSAAA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G133DIIATGGSAKA1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G133DILATGGSAGA1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
G133DLLATGGSLVA1Drosophila melanogaster
G133DLLATGGTMFA1Mus musculus
G134LLATGGTMCAA2Bos taurus, Rattus norvegicus
G134LLATGGTMNAA1Homo sapiens
G134LIATGGTLAAA1Arabidopsis thaliana
G134LLATGGTLRAA1Caenorhabditis elegans
G134ILATGGTALAA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G134IIATGGSAAAA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G134IIATGGSAKAA1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G134ILATGGSAGAA1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
G134LLATGGSLVAA1Drosophila melanogaster
G134LLATGGTMFAA1Mus musculus
K88CVLIRKRGKLP2Homo sapiens, Rattus norvegicus
K88FVPVRKAGKLP2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K88FVPMRKPKKLP1Arabidopsis thaliana
K88FVPIRKKGKLP1Caenorhabditis elegans
K88FVPVRKPNKLP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K88FVPVRKQGKLA1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
K88CAPIRKKGKLA1Drosophila melanogaster
K88CILIRKRGKLP1Bos taurus
K88CVLIRKQGKLP1Mus musculus
K91IRKRGKLPGPT3Homo sapiens, Bos taurus, Rattus norvegicus
K91MRKPKKLPGKV1Arabidopsis thaliana
K91IRKKGKLPGAT1Caenorhabditis elegans
K91VRKPNKLPGDL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K91VRKAGKLPGEC1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K91VRKQGKLAGEV1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
K91VRKAGKLPGQV1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K91IRKKGKLAGEV1Drosophila melanogaster
K91IRKQGKLPGPT1Mus musculus
L129VVVDDLLATGG3Homo sapiens, Drosophila melanogaster, Bos taurus
L129VIVDDLLATGG2Mus musculus, Rattus norvegicus
L129IIIDDLIATGG1Arabidopsis thaliana
L129FLIDDLLATGG1Caenorhabditis elegans
L129LIVDDILATGG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L129IIVDDIIATGG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L129VIVDDIIATGG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
L129VVVDDILATGG1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
L159VSLVELTSLKG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
L159ACVIELPELKG1Arabidopsis thaliana
L159FVLIELAPLNG1Caenorhabditis elegans
L159LFLLELTFLQG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L159NFVMELDFLKG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L159CFVMELDFLKG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
L159IFVMELDFLKG1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
L159LVVMELVGLEG1Drosophila melanogaster
R27EGILFEDFLPI2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R27PGVLFRDISPL2Mus musculus, Rattus norvegicus
R27PGVVFRDISPV1Homo sapiens
R27PGIMFQDITTL1Arabidopsis thaliana
R27KGINFRDIMPL1Caenorhabditis elegans
R27KGILFEDIMPI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R27EGVLFEDFLPI1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R27EGILFRDIFGA1Drosophila melanogaster
R27PGVLFRDISPV1Bos taurus
R67AGLDSRGFLFG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
R67VGLESRGFLFG2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R67AGVEARGFIFG1Arabidopsis thaliana
R67AGLEARGFLFG1Caenorhabditis elegans
R67VGLEARGFLFG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R67IGLEARGFLFG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R67VGLDSRGFLFN1Drosophila melanogaster
R87GCVLIRKRGKL2Homo sapiens, Rattus norvegicus
R87GFVPVRKAGKL2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R87KFVPMRKPKKL1Arabidopsis thaliana
R87PFVPIRKKGKL1Caenorhabditis elegans
R87AFVPVRKPNKL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R87GFVPVRKQGKL1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R87GCAPIRKKGKL1Drosophila melanogaster
R87GCILIRKRGKL1Bos taurus
R87GCVLIRKQGKL1Mus musculus
S66IAGLDSRGFLF4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
S66VAGVEARGFIF1Arabidopsis thaliana
S66VAGLEARGFLF1Caenorhabditis elegans
S66IVGLEARGFLF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S66IVGLESRGFLF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S66VIGLEARGFLF1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
S66LVGLESRGFLF1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S66IVGLDSRGFLF1Drosophila melanogaster
T132DDLLATGGTMC2Bos taurus, Rattus norvegicus
T132DDLLATGGTMN1Homo sapiens
T132DDLIATGGTLA1Arabidopsis thaliana
T132DDLLATGGTLR1Caenorhabditis elegans
T132DDILATGGTAL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T132DDIIATGGSAA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T132DDIIATGGSAK1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
T132DDILATGGSAG1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
T132DDLLATGGSLV1Drosophila melanogaster
T132DDLLATGGTMF1Mus musculus
T135LATGGTMCAAC2Bos taurus, Rattus norvegicus
T135LATGGTMNAAC1Homo sapiens
T135IATGGTLAAAI1Arabidopsis thaliana
T135LATGGTLRAAT1Caenorhabditis elegans
T135LATGGTALAAD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T135IATGGSAAAAG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T135IATGGSAKAAG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
T135LATGGSAGAAG1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
T135LATGGSLVAAT1Drosophila melanogaster
T135LATGGTMFAAC1Mus musculus
V25PIPGVLFRDIS3Bos taurus, Mus musculus, Rattus norvegicus
V25PTPGVVFRDIS1Homo sapiens
V25PKPGIMFQDIT1Arabidopsis thaliana
V25PKKGINFRDIM1Caenorhabditis elegans
V25PKKGILFEDIM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V25PSEGILFEDFL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V25PQEGILFEDFL1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
V25PKEGVLFEDFL1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
V25PKEGILFRDIF1Drosophila melanogaster


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