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mutLBSgeneDB |
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| Gene summary for ACADS |
 Gene summary |
| Basic gene Info. | Gene symbol | ACADS |
| Gene name | acyl-CoA dehydrogenase, C-2 to C-3 short chain | |
| Synonyms | ACAD3|SCAD | |
| Cytomap | UCSC genome browser: 12q24.31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000017.3, NM_001302554.1, | |
| Description | acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chainbutyryl-CoA dehydrogenasemitochondrial short-chain specific acyl-CoA dehydrogenaseshort-chain specific acyl-CoA dehydrogenase, mitochondrialunsaturated acyl-CoA reductase | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 606885 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000122971 | ||
| HPRD : 06053 | ||
| Vega : OTTHUMG00000169203 | ||
| Protein | UniProt: P16219 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ACADS | |
| BioGPS: 35 | ||
| Pathway | NCI Pathway Interaction Database: ACADS | |
| KEGG: ACADS | ||
| REACTOME: ACADS | ||
| Pathway Commons: ACADS | ||
| Context | iHOP: ACADS | |
| ligand binding site mutation search in PubMed: ACADS | ||
| UCL Cancer Institute: ACADS | ||
| 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 ACADS |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E396 | E396K | BLCA | 1 | L400 | L400P | COAD | 1 | T238 | N240S | COAD | 1 | I186 | I186V | KIRC | 1 | V401 | V401L | LUAD | 1 | F300 | G301V | LUSC | 1 | R272 | R272C | SKCM | 1 | R272 | G274S | 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 ACADS |
| 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 | F300 | G301V | 0.36085022 | R272 | R272C | -1.2882755 | T238 | N240S | -1.0835825 | V401 | V401L | -0.92085011 | R272 | G274S | -0.82205963 | I186 | I186V | -0.79098614 | L400 | L400P | -0.7509707 | E396 | E396K | -0.72852966 |
| (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 ACADS from PDB |
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| Differential gene expression and gene-gene network for ACADS |
| 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 ACADS |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0342783 | Short chain Acyl CoA dehydrogenase deficiency | 10 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ACADS |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Nutraceutical | DB00157 | NADH | Small molecule |  |
| Experimental | DB03059 | Acetoacetyl-Coenzyme A | Small molecule |  |
| Approved | DB03147 | Flavin adenine dinucleotide | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ACADS go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FAD | FAD | 2vig | C | E396 L400 | FAD | FAD | 2vig | E | E396 L400 | FAD | FAD | 2vig | F | E396 L400 | FAD | FAD | 2vig | A | F300 | FAD | FAD | 2vig | B | F300 | FAD | FAD | 2vig | C | F300 | FAD | FAD | 2vig | D | F300 | FAD | FAD | 2vig | E | F300 | FAD | FAD | 2vig | F | F300 | FAD | FAD | 2vig | G | F300 | FAD | FAD | 2vig | H | F300 | FAD | FAD | 2vig | D | I186 E396 L400 | FAD | FAD | 2vig | G | I186 E396 L400 | FAD | FAD | 2vig | H | I186 E396 L400 | COS | COENZYME A PERSULFIDE | 2vig | B | R272 | COS | COENZYME A PERSULFIDE | 2vig | C | R272 | COS | COENZYME A PERSULFIDE | 2vig | D | R272 | COS | COENZYME A PERSULFIDE | 2vig | F | R272 | COS | COENZYME A PERSULFIDE | 2vig | G | R272 V401 | FAD | FAD | 2vig | B | T238 E396 | FAD | FAD | 2vig | A | T238 E396 L400 |
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| Conservation information for LBS of ACADS |
| Multiple alignments for P16219 in multiple species |
| LBS | AA sequence | # species | Species | A163 | GNGSDAGAAST | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A163 | GNGSDAGAAAT | 1 | Bos taurus | D269 | AMQTLDMGRIG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D269 | AMQTLDTGRIG | 1 | Bos taurus | E392 | ITEIYEGTSEI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | E396 | YEGTSEIQRLV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F152 | DKIGCFALSEP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F261 | EPGMGFKIAMQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F261 | EPGLGFKIAMQ | 1 | Bos taurus | F300 | ENRMAFGAPLT | 1 | Homo sapiens | F300 | ENRSAFGAPLT | 1 | Bos taurus | F300 | ENRNAFGAPLT | 1 | Mus musculus | F300 | ENRHAFGAPLT | 1 | Rattus norvegicus | G160 | SEPGNGSDAGA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G369 | IQILGGMGYVT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G369 | MQILGGMGYVK | 1 | Bos taurus | G393 | TEIYEGTSEIQ | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I186 | GTKAWITNAWE | 2 | Homo sapiens, Bos taurus | I186 | GTKAWITNSWE | 2 | Mus musculus, Rattus norvegicus | I342 | NKKPFTKESAM | 2 | Mus musculus, Rattus norvegicus | I342 | NKKPFIKEAAM | 1 | Homo sapiens | I342 | NKKPFTKEAAM | 1 | Bos taurus | I366 | HQAIQILGGMG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I366 | HQAMQILGGMG | 1 | Bos taurus | I387 | YRDARITEIYE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I390 | ARITEIYEGTS | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I397 | EGTSEIQRLVI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I397 | EGTSEIQRLVV | 1 | Bos taurus | K230 | GKKEDKLGIRA | 3 | Bos taurus, Mus musculus, Rattus norvegicus | K230 | GKKEDKLGIRG | 1 | Homo sapiens | L154 | IGCFALSEPGN | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L268 | IAMQTLDMGRI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L268 | IAMQTLDTGRI | 1 | Bos taurus | L304 | AFGAPLTKLQN | 2 | Mus musculus, Rattus norvegicus | L304 | AFGAPLTKLQV | 1 | Homo sapiens | L304 | AFGAPLTKLQA | 1 | Bos taurus | L307 | APLTKLQNIQF | 2 | Mus musculus, Rattus norvegicus | L307 | APLTKLQVIQF | 1 | Homo sapiens | L307 | APLTKLQAIQF | 1 | Bos taurus | L400 | SEIQRLVIAGH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L400 | SEIQRLVVAGH | 1 | Bos taurus | M265 | GFKIAMQTLDM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M265 | GFKIAMQTLDT | 1 | Bos taurus | Q266 | FKIAMQTLDMG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q266 | FKIAMQTLDTG | 1 | Bos taurus | Q365 | SHQAIQILGGM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q365 | THQAMQILGGM | 1 | Bos taurus | R272 | TLDMGRIGIAS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R272 | TLDTGRIGIAS | 1 | Bos taurus | R297 | NYAENRMAFGA | 1 | Homo sapiens | R297 | TYAENRSAFGA | 1 | Bos taurus | R297 | KYAENRNAFGA | 1 | Mus musculus | R297 | KYAENRHAFGA | 1 | Rattus norvegicus | S155 | GCFALSEPGNG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S161 | EPGNGSDAGAA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | T187 | TKAWITNAWEA | 2 | Homo sapiens, Bos taurus | T187 | TKAWITNSWEA | 2 | Mus musculus, Rattus norvegicus | T238 | IRASSTANLIF | 3 | Bos taurus, Mus musculus, Rattus norvegicus | T238 | IRGSSTANLIF | 1 | Homo sapiens | T394 | EIYEGTSEIQR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V309 | LTKLQNIQFKL | 2 | Mus musculus, Rattus norvegicus | V309 | LTKLQVIQFKL | 1 | Homo sapiens | V309 | LTKLQAIQFKL | 1 | Bos taurus | V401 | EIQRLVIAGHL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V401 | EIQRLVVAGHL | 1 | Bos taurus | W185 | NGTKAWITNSW | 2 | Mus musculus, Rattus norvegicus | W185 | NGTKAWITNAW | 1 | Homo sapiens | W185 | SGTKAWITNAW | 1 | Bos taurus | Y391 | RITEIYEGTSE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus |
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