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mutLBSgeneDB |
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| Gene summary for AASDHPPT |
 Gene summary |
| Basic gene Info. | Gene symbol | AASDHPPT |
| Gene name | aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase | |
| Synonyms | AASD-PPT|LYS2|LYS5 | |
| Cytomap | UCSC genome browser: 11q22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_015423.2, | |
| Description | 4'-phosphopantetheinyl transferaseL-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferaseLYS5 orthologalpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 607756 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000149313 | ||
| HPRD : 09675 | ||
| Vega : OTTHUMG00000166253 | ||
| Protein | UniProt: Q9NRN7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AASDHPPT | |
| BioGPS: 60496 | ||
| Pathway | NCI Pathway Interaction Database: AASDHPPT | |
| KEGG: AASDHPPT | ||
| REACTOME: AASDHPPT | ||
| Pathway Commons: AASDHPPT | ||
| Context | iHOP: AASDHPPT | |
| ligand binding site mutation search in PubMed: AASDHPPT | ||
| UCL Cancer Institute: AASDHPPT | ||
| 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 |
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| Ligand binding site mutations for AASDHPPT |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F152 | R150I | UCEC | 2 | G190 | G190E | HNSC | 1 | L195 | R197P | UCEC | 1 | E181 | S182R | 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 AASDHPPT |
| 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 | G190 | G190E | 0.35718995 | L195 | R197P | -1.0376261 | F152 | R150I | -0.98697954 | E181 | S182R | -0.86896024 |
| (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 AASDHPPT from PDB |
| PDB ID | PDB title | PDB structure | 2BYD | STRUCTURE OF AMINOADIPATE-SEMIALDEHYDE DEHYDROGENASE-PHOSPHOPANTETHEINYL TRANSFERASE |  |
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| Differential gene expression and gene-gene network for AASDHPPT |
| 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 AASDHPPT |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for AASDHPPT |
| 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 AASDHPPT go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of AASDHPPT |
| Multiple alignments for Q9NRN7 in multiple species |
| LBS | AA sequence | # species | Species | D129 | LQVGIDIMKTS | 2 | Homo sapiens, Rattus norvegicus | D129 | VQVGIDIMKTS | 1 | Mus musculus | E181 | HWALKESFIKA | 2 | Mus musculus, Rattus norvegicus | E181 | NWALKESFIKA | 1 | Homo sapiens | F152 | IMKRKFTNKEW | 2 | Homo sapiens, Rattus norvegicus | F152 | IMKRKFTKKEW | 1 | Mus musculus | G188 | FIKAIGVGLGF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G190 | KAIGVGLGFEM | 2 | Mus musculus, Rattus norvegicus | G190 | KAIGVGLGFEL | 1 | Homo sapiens | G90 | QRTAKGKPVLA | 1 | Homo sapiens | G90 | QRTSKGKPVLA | 1 | Mus musculus | G90 | QRTSKGKPILA | 1 | Rattus norvegicus | H111 | NFNISHQGDYA | 2 | Homo sapiens, Mus musculus | H111 | NFNISHQGDYT | 1 | Rattus norvegicus | I109 | NFNFNISHQGD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I184 | LKESFIKAIGV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K180 | RHWALKESFIK | 2 | Mus musculus, Rattus norvegicus | K180 | RNWALKESFIK | 1 | Homo sapiens | K185 | KESFIKAIGVG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K89 | LQRTAKGKPVL | 1 | Homo sapiens | K89 | LQRTSKGKPVL | 1 | Mus musculus | K89 | LQRTSKGKPIL | 1 | Rattus norvegicus | K91 | RTAKGKPVLAK | 1 | Homo sapiens | K91 | RTSKGKPVLAK | 1 | Mus musculus | K91 | RTSKGKPILAK | 1 | Rattus norvegicus | L191 | AIGVGLGFEMQ | 2 | Mus musculus, Rattus norvegicus | L191 | AIGVGLGFELQ | 1 | Homo sapiens | L195 | GLGFEMQRLEF | 2 | Mus musculus, Rattus norvegicus | L195 | GLGFELQRLEF | 1 | Homo sapiens | M131 | VGIDIMKTSFP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N108 | PNFNFNISHQG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P92 | TAKGKPVLAKD | 1 | Homo sapiens | P92 | TSKGKPVLAKD | 1 | Mus musculus | P92 | TSKGKPILAKD | 1 | Rattus norvegicus | Q41 | AVRSIQPEEKE | 2 | Homo sapiens, Rattus norvegicus | Q41 | AMRSIQPEEKE | 1 | Mus musculus | R47 | PEEKERIGQFV | 2 | Homo sapiens, Rattus norvegicus | R47 | PEEKERIGKFV | 1 | Mus musculus | R64 | AALAGRLMIRK | 2 | Mus musculus, Rattus norvegicus | R64 | AAMAGRLMIRK | 1 | Homo sapiens | R68 | GRLMIRKLVAE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R86 | HIRLQRTSKGK | 2 | Mus musculus, Rattus norvegicus | R86 | HIRLQRTAKGK | 1 | Homo sapiens | S110 | FNFNISHQGDY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W177 | MFYRHWALKES | 2 | Mus musculus, Rattus norvegicus | W177 | MFYRNWALKES | 1 | Homo sapiens |
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