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 ASS1
Gene summary
Basic gene Info.Gene symbolASS1
Gene nameargininosuccinate synthase 1
SynonymsASS|CTLN1
CytomapUCSC genome browser: 9q34.1
Type of geneprotein-coding
RefGenesNM_000050.4,
NM_054012.3,
Descriptionargininosuccinate synthaseargininosuccinate synthetase 1citrulline--aspartate ligasecitrulline-aspartate ligase
Modification date20141222
dbXrefs MIM : 603470
HGNC : HGNC
Ensembl : ENSG00000130707
HPRD : 04590
Vega : OTTHUMG00000020806
ProteinUniProt: P00966
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ASS1
BioGPS: 445
PathwayNCI Pathway Interaction Database: ASS1
KEGG: ASS1
REACTOME: ASS1
Pathway Commons: ASS1
ContextiHOP: ASS1
ligand binding site mutation search in PubMed: ASS1
UCL Cancer Institute: ASS1
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 ASS1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
Y87R86SLUAD1
Y282I281MLUAD1
Y87D85YLUAD1
R127R127WSKCM1
D124Q125RSTAD1
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 ASS1
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
Y282I281M-1.5297528
Y87R86S-1.0114996
Y87D85Y-0.51185481
D124Q125R-0.50273711
R127R127W-0.12392606
(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 ASS1 from PDB

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Differential gene expression and gene-gene network for ASS1
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 ASS1 and the right PPI network was created from samples without mutations in the LBS of ASS1. 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 ASS1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0175683Citrullinemia44Biomarker, GeneticVariation
umls:C0011875Diabetic Angiopathies1Therapeutic

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

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Pharmacological information for ASS1
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|nutraceuticalDB00125L-ArginineSmall molecule
Approved|nutraceuticalDB00128L-Aspartic AcidSmall molecule
Approved|nutraceuticalDB00155L-CitrullineSmall molecule
Approved|nutraceuticalDB00171Adenosine triphosphateSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ASS1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ASPL-ASPARTIC ACID2nz2AD124
CIRCITRULLINE2nz2AY87 D124 R127 Y282


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Conservation information for LBS of ASS1
Multiple alignments for P00966 in multiple species
LBSAA sequence# speciesSpecies
A118YVSHGATGKGN6Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus
A118AVSHGCTGKGN2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A118AVAHGCTGKGN1Arabidopsis thaliana
A118YIAHGATGKGN1Gallus gallus
A118YLAHGATGKGN1Drosophila melanogaster
A118YISHGATGKGN1Anopheles gambiae
D124TGKGNDQVRFE8Homo sapiens, Arabidopsis thaliana, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Danio rerio, Gallus gallus, Mus musculus, Rattus norvegicus, Drosophila melanogaster
D124TGKGNDQIRFE4Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Xenopus tropicalis, Bos taurus, Anopheles gambiae
D182NPWSMDENLMH2Homo sapiens, Bos taurus
D182SPWSMDENLMH2Mus musculus, Rattus norvegicus
D182SIYSRDRNLWH1Arabidopsis thaliana
D182KPWSTDENQAH1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D182KPWSMDENIVH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D182APWSMDANLMH1Danio rerio
D182APWSMDENLMH1Gallus gallus
D182DPWSMDENIMH1Xenopus tropicalis
D182TPWSTDANILH1Drosophila melanogaster
D182APWSMDANIMH1Anopheles gambiae
E191MHISYEAGILE5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
E191MHISYESGILE2Danio rerio, Anopheles gambiae
E191WHLSHEGDLLE1Arabidopsis thaliana
E191AHISYEAGILE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E191VHCSYEAGILE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E191MHISYEGGILE1Xenopus tropicalis
E191LHISYESGILE1Drosophila melanogaster
E270RIDIVENRFIG6Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus
E270RIDMVENRLVG1Arabidopsis thaliana
E270RIDIVEDRYIN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E270RIDIVENRFSG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E270RVDIVENRFVG1Gallus gallus
E270RIDIVENRFVG1Drosophila melanogaster
E270RIDIVENRYIG1Anopheles gambiae
G122GATGKGNDQVR6Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Rattus norvegicus, Drosophila melanogaster
G122GATGKGNDQIR3Xenopus tropicalis, Bos taurus, Anopheles gambiae
G122GCTGKGNDQVR2Arabidopsis thaliana, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G122GCTGKGNDQIR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M181KNPWSMDENLM2Homo sapiens, Bos taurus
M181KSPWSMDENLM2Mus musculus, Rattus norvegicus
M181KSIYSRDRNLW1Arabidopsis thaliana
M181AKPWSTDENQA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M181KKPWSMDENIV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M181KAPWSMDANLM1Danio rerio
M181KAPWSMDENLM1Gallus gallus
M181KDPWSMDENIM1Xenopus tropicalis
M181ATPWSTDANIL1Drosophila melanogaster
M181KAPWSMDANIM1Anopheles gambiae
N123ATGKGNDQVRF6Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Rattus norvegicus, Drosophila melanogaster
N123ATGKGNDQIRF3Xenopus tropicalis, Bos taurus, Anopheles gambiae
N123CTGKGNDQVRF2Arabidopsis thaliana, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N123CTGKGNDQIRF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R127GNDQVRFELTC3Danio rerio, Mus musculus, Rattus norvegicus
R127GNDQIRFELTC2Xenopus tropicalis, Bos taurus
R127GNDQVRFELSC1Homo sapiens
R127GNDQVRFELTF1Arabidopsis thaliana
R127GNDQIRFELSF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R127GNDQVRFELAY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R127GNDQVRFELGC1Gallus gallus
R127GNDQVRFELCA1Drosophila melanogaster
R127GNDQIRFELSC1Anopheles gambiae
S189NLMHISYEAGI5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
S189NLWHLSHEGDL1Arabidopsis thaliana
S189NQAHISYEAGI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S189NIVHCSYEAGI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S189NLMHISYESGI1Danio rerio
S189NIMHISYEGGI1Xenopus tropicalis
S189NILHISYESGI1Drosophila melanogaster
S189NIMHISYESGI1Anopheles gambiae
T119VSHGATGKGND6Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus
T119VSHGCTGKGND2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T119VAHGCTGKGND1Arabidopsis thaliana
T119IAHGATGKGND1Gallus gallus
T119LAHGATGKGND1Drosophila melanogaster
T119ISHGATGKGND1Anopheles gambiae
T91RYLLGTSLARP7Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Anopheles gambiae
T91VYLLGTSLARP2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T91KYLLGTSMARP1Arabidopsis thaliana
T91RYLLGTSIARP1Danio rerio
T91RYMLGSALARP1Gallus gallus
Y282KSRGIYETPAG6Homo sapiens, Gallus gallus, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus
Y282KSRGVYETPGG2Arabidopsis thaliana, Drosophila melanogaster
Y282KSRGCYEQAPL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y282KSRGCYETPGL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y282KSRGIYETPGG1Danio rerio
Y282KSRGVYETPGV1Anopheles gambiae
Y87LYEDRYLLGTS5Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Rattus norvegicus
Y87IYEDRYLLGTS2Xenopus tropicalis, Anopheles gambiae
Y87IYERKYLLGTS1Arabidopsis thaliana
Y87VYEDVYLLGTS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y87IYENVYLLGTS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y87LYEDRYMLGSA1Gallus gallus
Y87VYEERYLLGTS1Drosophila melanogaster


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