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 GART
Gene summary
Basic gene Info.Gene symbolGART
Gene namephosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
SynonymsAIRS|GARS|GARTF|PAIS|PGFT|PRGS
CytomapUCSC genome browser: 21q22.11
Type of geneprotein-coding
RefGenesNM_000819.4,
NM_001136005.1,NM_001136006.1,NM_175085.2,
Descriptiontrifunctional purine biosynthetic protein adenosine-3
Modification date20141207
dbXrefs MIM : 138440
HGNC : HGNC
Ensembl : ENSG00000159131
HPRD : 00716
Vega : OTTHUMG00000065628
ProteinUniProt: P22102
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GART
BioGPS: 2618
PathwayNCI Pathway Interaction Database: GART
KEGG: GART
REACTOME: GART
Pathway Commons: GART
ContextiHOP: GART
ligand binding site mutation search in PubMed: GART
UCL Cancer Institute: GART
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_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 GART

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
K162K162TCOAD1
R871N870YLUAD1
E190E190DLUAD1
N229G231EUCEC1
L193L193FUCEC1
K977K977NUCEC1
M278M278IUCEC1
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 GART
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
L193L193F-1.1766087
K162K162T-0.82286178
K977K977N-0.77072041
R871N870Y-0.66437553
N229G231E-0.28159589
M278M278I-0.27080954
E190E190D-0.20291246
(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 GART from PDB

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Differential gene expression and gene-gene network for GART
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 GART and the right PPI network was created from samples without mutations in the LBS of GART. 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 GART
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 GART
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|investigationalDB00642PemetrexedSmall molecule
ExperimentalDB02236Glycinamide RibonucleotideSmall molecule
ExperimentalDB0354610-CF3C(OH)2-DDACTHFSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GART go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ATPATP2qk4AE190 L193 N229 M278
ATPATP2qk4BK162 E190 L193 M278
GARN(1)-(5-PHOSPHO-D-RIBOSYL)GLYCINAMIDE4zz1AK977
GARN(1)-(5-PHOSPHO-D-RIBOSYL)GLYCINAMIDE4zz2AK977
GARN(1)-(5-PHOSPHO-D-RIBOSYL)GLYCINAMIDE4zz3AK977
3YF(S)-2-({4-[3-(2-AMINO-4-OXO-4,7-DIHYDRO-3H-PYRROLO[2,3- D]PYRIMIDIN-6-YL)-PROPYL]-THIOPHENE-2-CARBONYL}- AMINO)-PENTANEDIOIC ACID4zz1AR871
3YG(S)-2-({5-[3-(2-AMINO-4-OXO-4,7-DIHYDRO-3H-PYRROLO[2,3- D]PYRIMIDIN-6-YL)-PROPYL]-THIOPHENE-3-CARBONYL}- AMINO)-PENTANEDIOIC ACID4zz2AR871


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Conservation information for LBS of GART
Multiple alignments for P22102 in multiple species
LBSAA sequence# speciesSpecies
A893DIVCLAGFMRI3Homo sapiens, Mus musculus, Bos taurus
A893-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A893DLICLAGFMRV1Drosophila melanogaster
A893ELICLAGFMRI1Gallus gallus
A947TVHFVAEDVDA3Homo sapiens, Mus musculus, Bos taurus
A947-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A947TVHFVDEGVDT1Drosophila melanogaster
A947TVHFVAEEVDA1Gallus gallus
D951VAEDVDAGQII3Homo sapiens, Mus musculus, Bos taurus
D951-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D951VDEGVDTGAII1Drosophila melanogaster
D951VAEEVDAGAII1Gallus gallus
E190ETIVIEELLDG1Homo sapiens
E190CQVVVEEFLEG1Arabidopsis thaliana
E190KQVVIEQFLEG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E190KNVVIEELLEG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E190ATLVVEELLEG1Drosophila melanogaster
E190ETVVVEELLEG1Gallus gallus
E190ETVVVEEFLEG1Mus musculus
E190ETVVIEELLEG1Bos taurus
E191TIVIEELLDGE1Homo sapiens
E191QVVVEEFLEGE1Arabidopsis thaliana
E191QVVIEQFLEGD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E191NVVIEELLEGE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E191TLVVEELLEGE1Drosophila melanogaster
E191TVVVEELLEGE1Gallus gallus
E191TVVVEEFLEGE1Mus musculus
E191TVVIEELLEGE1Bos taurus
E197LLEGEEVSCLC2Gallus gallus, Bos taurus
E197LLDGEEVSCLC1Homo sapiens
E197FLEGEEASFFA1Arabidopsis thaliana
E197FLEGDEISLLT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E197LLEGEELSILT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E197LLEGEEVSVLA1Drosophila melanogaster
E197FLEGEEVSCLC1Mus musculus
E948VHFVAEDVDAG3Homo sapiens, Mus musculus, Bos taurus
E948-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E948VHFVDEGVDTG1Drosophila melanogaster
E948VHFVAEEVDAG1Gallus gallus
E980-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E980RVKLAEHKIFP2Homo sapiens, Bos taurus
E980RIHKAEHWAFP1Drosophila melanogaster
E980RVKEAEHRAFP1Gallus gallus
E980RVKVAEHKIFP1Mus musculus
F895VCLAGFMRILS3Homo sapiens, Mus musculus, Bos taurus
F895-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F895ICLAGFMRVLS1Drosophila melanogaster
F895ICLAGFMRILS1Gallus gallus
G818LISGTGSNLQA4Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus
G818-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G818LISGTGTNLEA1Gallus gallus
G894IVCLAGFMRIL3Homo sapiens, Mus musculus, Bos taurus
G894-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G894LICLAGFMRVL1Drosophila melanogaster
G894LICLAGFMRIL1Gallus gallus
G924LPSFKGSNAHE3Homo sapiens, Mus musculus, Bos taurus
G924-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G924LPKYPGLHVQK1Drosophila melanogaster
G924LPSFKGANAHK1Gallus gallus
H915KMLNIHPSLLP3Homo sapiens, Mus musculus, Bos taurus
H915-----------2Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H915F----------1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H915RLVNIHPSLLP1Drosophila melanogaster
H915KILNIHPSLLP1Gallus gallus
H944TGCTVHFVAED3Homo sapiens, Mus musculus, Bos taurus
H944-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H944SGCTVHFVDEG1Drosophila melanogaster
H944TGCTVHFVAEE1Gallus gallus
I898AGFMRILSGPF4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
I898-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I898AGFMRVLSAPF1Drosophila melanogaster
I914GKMLNIHPSLL3Homo sapiens, Mus musculus, Bos taurus
I914-----------2Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I914TF---------1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I914GRLVNIHPSLL1Drosophila melanogaster
I914GKILNIHPSLL1Gallus gallus
K148PALVVKASGLA4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
K148P-IVIKADGLA1Arabidopsis thaliana
K148KAFVIKADGIA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K148D-VVIKADGLA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K148PALVVKAAGLA1Drosophila melanogaster
K162GVIVAKSKEEA2Homo sapiens, Bos taurus
K162GVTVAMELEEA1Arabidopsis thaliana
K162GVIIPSSIDES1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K162GVIIPKTKKEA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K162GVVVAANAKEA1Drosophila melanogaster
K162GVIVASNKEEA1Gallus gallus
K162GVIVAKSQAEA1Mus musculus
K844-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K844IVISNKAAVAG2Homo sapiens, Bos taurus
K844LVISNKPGVLG1Drosophila melanogaster
K844LVVSNKAGVEG1Gallus gallus
K844LVISNKAAVAG1Mus musculus
K977-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K977LSERVKLAEHK2Homo sapiens, Bos taurus
K977LTQRIHKAEHW1Drosophila melanogaster
K977LSERVKEAEHR1Gallus gallus
K977LSERVKVAEHK1Mus musculus
L192VVVEEFLEGEE2Arabidopsis thaliana, Mus musculus
L192VVIEELLEGEE2Schizosaccharomyces pombe (strain 972 / ATCC 24843), Bos taurus
L192IVIEELLDGEE1Homo sapiens
L192VVIEQFLEGDE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L192LVVEELLEGEE1Drosophila melanogaster
L192VVVEELLEGEE1Gallus gallus
L193VVEELLEGEEV2Drosophila melanogaster, Gallus gallus
L193VIEELLDGEEV1Homo sapiens
L193VVEEFLEGEEA1Arabidopsis thaliana
L193VIEQFLEGDEI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L193VIEELLEGEEL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L193VVEEFLEGEEV1Mus musculus
L193VIEELLEGEEV1Bos taurus
L287--PKVLEFNCR4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
L287-LPKLIEFNVR1Arabidopsis thaliana
L287LVPEVLEYNVR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L287--PRVLEYNVR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L287--PRVLEFNCR1Drosophila melanogaster
L892-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L892IDIVCLAGFMR1Homo sapiens
L892VDLICLAGFMR1Drosophila melanogaster
L892VELICLAGFMR1Gallus gallus
L892VDIVCLAGFMR1Mus musculus
L892TDIVCLAGFMR1Bos taurus
L899GFMRILSGPFV4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
L899-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L899GFMRVLSAPFV1Drosophila melanogaster
M278LYAGIMLTKNG2Homo sapiens, Bos taurus
M278LFAGLMIEKKS1Arabidopsis thaliana
M278LFTGMILVKDS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M278LFTGLMLTPSG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M278LYAGLMLTRDG1Drosophila melanogaster
M278LYAGLMLTKDG1Gallus gallus
M278LYAGIMLTKDG1Mus musculus
M896CLAGFMRILSG4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
M896-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M896CLAGFMRVLSA1Drosophila melanogaster
N229GDEGPNTGGMG3Gallus gallus, Mus musculus, Bos taurus
N229GDTGPNTGGMG2Arabidopsis thaliana, Drosophila melanogaster
N229GDGGPNTGGMG1Homo sapiens
N229GDKGLNTGGMG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N229GDKGPNTGGMG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N820SGTGSNLQALI4Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus
N820-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N820SGTGTNLEALI1Gallus gallus
N913NGKMLNIHPSL2Homo sapiens, Bos taurus
N913-----------2Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N913ETF--------1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N913RGRLVNIHPSL1Drosophila melanogaster
N913EGKILNIHPSL1Gallus gallus
N913DGKMLNIHPSL1Mus musculus
P916MLNIHPSLLPS3Homo sapiens, Mus musculus, Bos taurus
P916-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P916LVNIHPSLLPK1Drosophila melanogaster
P916ILNIHPSLLPS1Gallus gallus
R220AQDHKRLLEGD2Homo sapiens, Bos taurus
R220AQDHKRVGDGD1Arabidopsis thaliana
R220AQDHKRIFDGD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R220AQDHKRAFDGD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R220AQDHKRLGNGD1Drosophila melanogaster
R220AQDHKRLKDGD1Gallus gallus
R220AQDHKRLLDGD1Mus musculus
R871-----------2Arabidopsis thaliana, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R871KLYKNRVEFDS1Homo sapiens
R871KLY--------1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R871KDFASREVYDA1Drosophila melanogaster
R871KQYGSRTEFDS1Gallus gallus
R871KLYKNRVEFDN1Mus musculus
R871KLYKNRAAFDT1Bos taurus
R897LAGFMRILSGP4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
R897-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R897LAGFMRVLSAP1Drosophila melanogaster
S819ISGTGSNLQAL4Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus
S819-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S819ISGTGTNLEAL1Gallus gallus
S925PSFKGSNAHEQ3Homo sapiens, Mus musculus, Bos taurus
S925-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S925PKYPGLHVQKQ1Drosophila melanogaster
S925PSFKGANAHKL1Gallus gallus
T817VLISGTGSNLQ4Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus
T817-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T817VLISGTGTNLE1Gallus gallus
V146DFPALVVKASG2Homo sapiens, Bos taurus
V146NFPALVVKASG2Gallus gallus, Mus musculus
V146GAP-IVIKADG1Arabidopsis thaliana
V146TDKAFVIKADG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V146TFD-VVIKADG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V146PYPALVVKAAG1Drosophila melanogaster
V160GKGVIVAKSKE2Homo sapiens, Bos taurus
V160GKGVTVAMELE1Arabidopsis thaliana
V160GKGVIIPSSID1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V160GKGVIIPKTKK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V160GKGVVVAANAK1Drosophila melanogaster
V160GKGVIVASNKE1Gallus gallus
V160GKGVIVAKSQA1Mus musculus
V904-----------2Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V904LSGPFVQKWNG1Homo sapiens
V904------NKWET1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V904LSAPFVREWRG1Drosophila melanogaster
V904LSGPFVKKWEG1Gallus gallus
V904LSGPFVRKWDG1Mus musculus
V904LSGPFVRKWNG1Bos taurus
V946CTVHFVAEDVD3Homo sapiens, Mus musculus, Bos taurus
V946-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V946CTVHFVDEGVD1Drosophila melanogaster
V946CTVHFVAEEVD1Gallus gallus
V950FVAEDVDAGQI3Homo sapiens, Mus musculus, Bos taurus
V950-----------3Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V950FVDEGVDTGAI1Drosophila melanogaster
V950FVAEEVDAGAI1Gallus gallus


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