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mutLBSgeneDB |
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| Gene summary for ADSL |
 Gene summary |
| Basic gene Info. | Gene symbol | ADSL |
| Gene name | adenylosuccinate lyase | |
| Synonyms | AMPS|ASASE|ASL | |
| Cytomap | UCSC genome browser: 22q13.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000026.2, NM_001123378.1, | |
| Description | adenylosuccinase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 608222 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000239900 | ||
| HPRD : 00049 | ||
| Vega : OTTHUMG00000166425 | ||
| Protein | UniProt: P30566 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ADSL | |
| BioGPS: 158 | ||
| Pathway | NCI Pathway Interaction Database: ADSL | |
| KEGG: ADSL | ||
| REACTOME: ADSL | ||
| Pathway Commons: ADSL | ||
| Context | iHOP: ADSL | |
| ligand binding site mutation search in PubMed: ADSL | ||
| UCL Cancer Institute: ADSL | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006167 | AMP biosynthetic process | 11428554 | GO:0008152 | metabolic process | 10888601 | GO:0051262 | protein tetramerization | 16973378 |
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| Ligand binding site mutations for ADSL |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S112 | S112Y | BRCA | 1 | M89 | H91D | HNSC | 1 | T158 | F157L | HNSC | 1 | Q241 | G240R | SKCM | 1 | M299 | R300C | UCEC | 1 |
| 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 ADSL |
| 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | S112 | S112Y | 0.16099919 | M89 | H91D | -1.1134189 | M299 | R300C | -1.0004155 | T158 | F157L | -0.61377938 | Q241 | G240R | -0.26002457 |
| (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 ADSL from PDB |
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| Differential gene expression and gene-gene network for ADSL |
| 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) |
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| Phenotype information for ADSL |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0268126 | Adenylosuccinate lyase deficiency | 13 | Biomarker, GeneticVariation |
| umls:C0004352 | Autistic Disorder | 5 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ADSL |
| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ADSL go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | AMP | AMP | 2j91 | A | M299 | AMP | AMP | 2j91 | B | M299 | AMP | AMP | 2j91 | C | M299 | AMP | AMP | 2j91 | D | M299 | 2SA | N(6)-(1,2-DICARBOXYETHYL)-AMP | 2vd6 | A | M299 | AMP | AMP | 2vd6 | B | M299 | 2SA | N(6)-(1,2-DICARBOXYETHYL)-AMP | 2vd6 | C | M299 | AMP | AMP | 2vd6 | D | M299 | FUM | FUMARIC ACID | 2vd6 | A | M89 S112 Q241 | AMP | AMP | 2j91 | B | Q241 | AMP | AMP | 2j91 | A | S112 Q241 | AMP | AMP | 2j91 | C | S112 Q241 | AMP | AMP | 2j91 | D | S112 Q241 | AMP | AMP | 2vd6 | A | S112 Q241 | 2SA | N(6)-(1,2-DICARBOXYETHYL)-AMP | 2vd6 | B | S112 Q241 | AMP | AMP | 2vd6 | C | S112 Q241 | FUM | FUMARIC ACID | 2vd6 | C | S112 Q241 | 2SA | N(6)-(1,2-DICARBOXYETHYL)-AMP | 2vd6 | D | S112 Q241 | 2SA | N(6)-(1,2-DICARBOXYETHYL)-AMP | 2vd6 | A | T158 | FUM | FUMARIC ACID | 2vd6 | B | T158 | 2SA | N(6)-(1,2-DICARBOXYETHYL)-AMP | 2vd6 | C | T158 | FUM | FUMARIC ACID | 2vd6 | D | T158 |
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| Conservation information for LBS of ADSL |
| Multiple alignments for P30566 in multiple species |
| LBS | AA sequence | # species | Species | A335 | TLDDSANRRIC | 3 | Homo sapiens, Mus musculus, Bos taurus | A335 | TLDDSANRRVC | 1 | Gallus gallus | A335 | TLDDSAIRRIS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A335 | TLDDSSNRRSL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D87 | KRLRHDVMAHV | 2 | Homo sapiens, Mus musculus | D87 | KKLRHDVMAHV | 1 | Gallus gallus | D87 | KQLRHDVMAHV | 1 | Bos taurus | D87 | AIVRHDVMAHV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D87 | KRQRHDVMAHI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H159 | TLGFTHFQPAQ | 3 | Homo sapiens, Mus musculus, Bos taurus | H159 | TLGFTHYQPAQ | 2 | Gallus gallus, Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H159 | VLGWTHFQPAQ | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H86 | EKRLRHDVMAH | 2 | Homo sapiens, Mus musculus | H86 | EKKLRHDVMAH | 1 | Gallus gallus | H86 | EKQLRHDVMAH | 1 | Bos taurus | H86 | EAIVRHDVMAH | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H86 | EKRQRHDVMAH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K295 | SAMPYKRNPMR | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | K295 | SAMAYKRNPMR | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L331 | WFERTLDDSAN | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | L331 | WFERTLDDSAI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L331 | WFERTLDDSSN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | M299 | YKRNPMRSERC | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | M299 | YKRNPMRCERV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | M299 | YKRNPMRCERI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | M89 | LRHDVMAHVHT | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | M89 | VRHDVMAHVHT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | M89 | QRHDVMAHIYT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q241 | FIITGQTYTRK | 3 | Homo sapiens, Mus musculus, Bos taurus | Q241 | YMVTGQTYSRK | 1 | Gallus gallus | Q241 | YPVTGQTYSRK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q241 | YPVTGQTYDRK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R20 | SPLASRYASPE | 2 | Homo sapiens, Bos taurus | R20 | SPLVSRYASAE | 1 | Gallus gallus | R20 | SPLAARYASRE | 1 | Mus musculus | R20 | TPLSSRYASKE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R20 | TPLTARYASAE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R303 | PMRSERCCSLA | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | R303 | PMRCERVCSLA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R303 | PMRCERICSQA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R329 | VQWFERTLDDS | 6 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R338 | DSANRRICLAE | 3 | Homo sapiens, Mus musculus, Bos taurus | R338 | DSANRRVCLAE | 1 | Gallus gallus | R338 | DSAIRRISLPS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R338 | DSSNRRSLLPE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R85 | EEKRLRHDVMA | 2 | Homo sapiens, Mus musculus | R85 | EEKKLRHDVMA | 1 | Gallus gallus | R85 | EEKQLRHDVMA | 1 | Bos taurus | R85 | QEAIVRHDVMA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R85 | EEKRQRHDVMA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S112 | HLGATSCYVGD | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | S112 | HLGATSCFVTD | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S334 | RTLDDSANRRI | 3 | Homo sapiens, Mus musculus, Bos taurus | S334 | RTLDDSANRRV | 1 | Gallus gallus | S334 | RTLDDSAIRRI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S334 | RTLDDSSNRRS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T111 | IHLGATSCYVG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | T111 | IHLGATSCFVT | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T158 | PTLGFTHFQPA | 3 | Homo sapiens, Mus musculus, Bos taurus | T158 | PTLGFTHYQPA | 2 | Gallus gallus, Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T158 | PVLGWTHFQPA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y21 | PLASRYASPEM | 2 | Homo sapiens, Bos taurus | Y21 | PLVSRYASAEM | 1 | Gallus gallus | Y21 | PLAARYASREM | 1 | Mus musculus | Y21 | PLSSRYASKEM | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y21 | PLTARYASAEM | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) |
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