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mutLBSgeneDB |
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| Gene summary for ACAD8 |
 Gene summary |
| Basic gene Info. | Gene symbol | ACAD8 |
| Gene name | acyl-CoA dehydrogenase family, member 8 | |
| Synonyms | ACAD-8|ARC42 | |
| Cytomap | UCSC genome browser: 11q25 | |
| Type of gene | protein-coding | |
| RefGenes | NM_014384.2, | |
| Description | activator-recruited cofactor 42 kDa componentacyl-Coenzyme A dehydrogenase family, member 8isobutyryl-CoA dehydrogenase, mitochondrial | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604773 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000151498 | ||
| HPRD : 11985 | ||
| Vega : OTTHUMG00000167177 | ||
| Protein | UniProt: Q9UKU7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ACAD8 | |
| BioGPS: 27034 | ||
| Pathway | NCI Pathway Interaction Database: ACAD8 | |
| KEGG: ACAD8 | ||
| REACTOME: ACAD8 | ||
| Pathway Commons: ACAD8 | ||
| Context | iHOP: ACAD8 | |
| ligand binding site mutation search in PubMed: ACAD8 | ||
| UCL Cancer Institute: ACAD8 | ||
| 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 ACAD8 |
| 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 | L309 | L309P | BRCA | 1 | R302 | K303N | LUAD | 1 | G374,M372 | H373Y | LUAD | 1 | P212 | P210L | SKCM | 1 | R302 | R302W | STAD | 1 | L309 | P308S | 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 ACAD8 |
| 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 | P212 | P210L | 0.099201488 | R302 | R302W | -1.0669696 | L309 | P308S | -1.0272909 | L309 | L309P | -0.75629599 | R302 | K303N | -0.73822902 | G374 | H373Y | -0.37467392 | M372 | H373Y | -0.37467392 |
| (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 ACAD8 from PDB |
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| Differential gene expression and gene-gene network for ACAD8 |
| 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 ACAD8 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1969809 | Isobutyryl-CoA dehydrogenase deficiency | 3 | Biomarker, GeneticVariation |
| umls:C0242656 | Disease Progression | 1 | Biomarker |
| umls:C0038356 | Stomach Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ACAD8 |
| 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 |
| Experimental | DB01675 | Methacrylyl-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 ACAD8 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 ACAD8 |
| Multiple alignments for Q9UKU7 in multiple species |
| LBS | AA sequence | # species | Species | A169 | GSGSDAASLLT | 2 | Homo sapiens, Mus musculus | A169 | GSGSDAASLMT | 1 | Bos taurus | E398 | VHQILEGSNEV | 3 | Homo sapiens, Bos taurus, Mus musculus | E402 | LEGSNEVMRML | 2 | Bos taurus, Mus musculus | E402 | LEGSNEVMRIL | 1 | Homo sapiens | F191 | NGSKAFISGGG | 2 | Bos taurus, Mus musculus | F191 | NGSKAFISGAG | 1 | Homo sapiens | F266 | SEGQGFLIAVR | 1 | Homo sapiens | F266 | DEGQGFLIAMK | 1 | Bos taurus | F266 | TEGQGFLIAMK | 1 | Mus musculus | F305 | NVRKQFGEPLA | 1 | Homo sapiens | F305 | KVRKQFGEPLA | 1 | Bos taurus | F305 | KVRKQFGAPLA | 1 | Mus musculus | G166 | TEPGSGSDAAS | 3 | Homo sapiens, Bos taurus, Mus musculus | G374 | ALQMHGGYGYL | 3 | Homo sapiens, Bos taurus, Mus musculus | G375 | LQMHGGYGYLK | 3 | Homo sapiens, Bos taurus, Mus musculus | G399 | HQILEGSNEVM | 3 | Homo sapiens, Bos taurus, Mus musculus | I125 | TAYISIHNMCA | 2 | Homo sapiens, Mus musculus | I125 | TAYMSIHNMCV | 1 | Bos taurus | I192 | GSKAFISGGGE | 2 | Bos taurus, Mus musculus | I192 | GSKAFISGAGE | 1 | Homo sapiens | I396 | SRVHQILEGSN | 3 | Homo sapiens, Bos taurus, Mus musculus | I406 | NEVMRILISRS | 1 | Homo sapiens | I406 | NEVMRMLISRS | 1 | Bos taurus | I406 | NEVMRMLISRN | 1 | Mus musculus | L160 | FASYCLTEPGS | 3 | Homo sapiens, Bos taurus, Mus musculus | L273 | IAMKGLNGGRI | 2 | Bos taurus, Mus musculus | L273 | IAVRGLNGGRI | 1 | Homo sapiens | L309 | QFGEPLASNQY | 1 | Homo sapiens | L309 | QFGEPLANSQY | 1 | Bos taurus | L309 | QFGAPLARSQY | 1 | Mus musculus | L315 | ASNQYLQFTLA | 1 | Homo sapiens | L315 | ANSQYLQFQLA | 1 | Bos taurus | L315 | ARSQYLQFQLA | 1 | Mus musculus | L397 | RVHQILEGSNE | 3 | Homo sapiens, Bos taurus, Mus musculus | L407 | EVMRILISRSL | 1 | Homo sapiens | L407 | EVMRMLISRSL | 1 | Bos taurus | L407 | EVMRMLISRNL | 1 | Mus musculus | M372 | NQALQMHGGYG | 3 | Homo sapiens, Bos taurus, Mus musculus | N274 | AMKGLNGGRIN | 2 | Bos taurus, Mus musculus | N274 | AVRGLNGGRIN | 1 | Homo sapiens | N312 | EPLASNQYLQF | 1 | Homo sapiens | N312 | EPLANSQYLQF | 1 | Bos taurus | N312 | APLARSQYLQF | 1 | Mus musculus | P212 | TGGPGPKGISC | 1 | Homo sapiens | P212 | TGGPGPRGISC | 1 | Bos taurus | P212 | TGGSGAKGISC | 1 | Mus musculus | Q371 | CNQALQMHGGY | 3 | Homo sapiens, Bos taurus, Mus musculus | R277 | GLNGGRINVAS | 2 | Bos taurus, Mus musculus | R277 | GLNGGRINIAS | 1 | Homo sapiens | R302 | DHLNVRKQFGE | 1 | Homo sapiens | R302 | DYLKVRKQFGE | 1 | Bos taurus | R302 | EHLKVRKQFGA | 1 | Mus musculus | R410 | RILISRSLLQE | 1 | Homo sapiens | R410 | RMLISRSLLQE | 1 | Bos taurus | R410 | RMLISRNLLQD | 1 | Mus musculus | S167 | EPGSGSDAASL | 3 | Homo sapiens, Bos taurus, Mus musculus | S193 | SKAFISGAGES | 1 | Homo sapiens | S193 | SKAFISGGGEA | 1 | Bos taurus | S193 | SKAFISGGGES | 1 | Mus musculus | S400 | QILEGSNEVMR | 3 | Homo sapiens, Bos taurus, Mus musculus | T161 | ASYCLTEPGSG | 3 | Homo sapiens, Bos taurus, Mus musculus | V270 | GFLIAMKGLNG | 2 | Bos taurus, Mus musculus | V270 | GFLIAVRGLNG | 1 | Homo sapiens | V348 | ERKDAVALCSM | 1 | Homo sapiens | V348 | EREDAIVLCSM | 1 | Bos taurus | V348 | EREDAVALCSM | 1 | Mus musculus | V393 | VRDSRVHQILE | 2 | Homo sapiens, Bos taurus | V393 | MRDSRVHQILE | 1 | Mus musculus | V403 | EGSNEVMRMLI | 2 | Bos taurus, Mus musculus | V403 | EGSNEVMRILI | 1 | Homo sapiens | W238 | EKKVGWNSQPT | 3 | Homo sapiens, Bos taurus, Mus musculus | Y158 | EKFASYCLTEP | 3 | Homo sapiens, Bos taurus, Mus musculus | Y376 | QMHGGYGYLKD | 3 | Homo sapiens, Bos taurus, Mus musculus | Y378 | HGGYGYLKDYA | 3 | Homo sapiens, Bos taurus, Mus musculus |
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