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mutLBSgeneDB |
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| Gene summary for ACADVL |
 Gene summary |
| Basic gene Info. | Gene symbol | ACADVL |
| Gene name | acyl-CoA dehydrogenase, very long chain | |
| Synonyms | ACAD6|LCACD|VLCAD | |
| Cytomap | UCSC genome browser: 17p13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000018.3, NM_001033859.2,NM_001270447.1,NM_001270448.1, | |
| Description | acyl-Coenzyme A dehydrogenase, very long chainvery long-chain specific acyl-CoA dehydrogenase, mitochondrial | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 609575 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000072778 | ||
| HPRD : 01940 | ||
| Vega : OTTHUMG00000102157 | ||
| Protein | UniProt: P49748 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ACADVL | |
| BioGPS: 37 | ||
| Pathway | NCI Pathway Interaction Database: ACADVL | |
| KEGG: ACADVL | ||
| REACTOME: ACADVL | ||
| Pathway Commons: ACADVL | ||
| Context | iHOP: ACADVL | |
| ligand binding site mutation search in PubMed: ACADVL | ||
| UCL Cancer Institute: ACADVL | ||
| 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 ACADVL |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D466 | D466G | COAD | 2 | I457 | R456C | BRCA | 1 | G222 | G222R | COAD | 1 | F214 | A213T | GBM | 1 | D466 | D466N | OV | 1 | I457 | R456H | UCEC | 1 | I457 | R456C | UCEC | 1 | G175 | V174M | 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 ACADVL |
| 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 | I457 | R456H | -1.4475287 | I457 | R456C | -1.157958 | F214 | A213T | -1.0524902 | G175 | V174M | -0.69926689 | D466 | D466N | -0.44360705 | D466 | D466G | -0.42080846 | G222 | G222R | -0.16458305 |
| (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 ACADVL from PDB |
| PDB ID | PDB title | PDB structure | 2UXW | CRYSTAL STRUCTURE OF HUMAN VERY LONG CHAIN ACYL-COA DEHYDROGENASE (ACADVL) |  |
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| Differential gene expression and gene-gene network for ACADVL |
| 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 ACADVL |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0342784 | VLCAD deficiency | 9 | Biomarker, GeneticVariation |
| umls:C0003130 | Anoxia | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| 98197 | V174M | Pathogenic | Germline | GeneReviews:NBK6816 MedGen:C0342784 OMIM:201460 OMIM:201475 Orphanet:ORPHA26793 SNOMED CT:237996001 SNOMED CT:237997005 MedGen:CN221809 |
| 98200 | G222R | Likely pathogenic;Uncertain significance | Germline;unknown | GeneReviews:NBK6816 MedGen:C0342784 OMIM:201460 OMIM:201475 Orphanet:ORPHA26793 SNOMED CT:237996001 SNOMED CT:237997005 MedGen:CN221809 |
| 191478 | R456C | Uncertain significance | Germline | MedGen:CN221809 |
| 191479 | R456H | Uncertain significance | Germline | MedGen:CN221809 |
| 195844 | A213T | Pathogenic | Germline | GeneReviews:NBK6816 MedGen:C0342784 OMIM:201460 OMIM:201475 Orphanet:ORPHA26793 SNOMED CT:237996001 SNOMED CT:237997005 MedGen:CN221809 |
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| Pharmacological information for ACADVL |
| 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 ACADVL go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FAD | FAD | 2uxw | A | F214 G222 I457 D466 | TH3 | TRANS DELTA2 PALMITENOYL-COENZYMEA | 2uxw | A | G175 F214 G222 |
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| Conservation information for LBS of ACADVL |
| Multiple alignments for P49748 in multiple species |
| LBS | AA sequence | # species | Species | D466 | FEGTNDILRLF | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | D466 | FEGANDILRLF | 1 | Mus musculus | E462 | IFRIFEGTNDI | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | E462 | IFRIFEGANDI | 1 | Mus musculus | F214 | QALAAFCLTEP | 2 | Mus musculus, Rattus norvegicus | F214 | ETVAAFCLTEP | 1 | Homo sapiens | F214 | ETIAAFCLTEP | 1 | Bos taurus | F461 | RIFRIFEGTND | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | F461 | RIFRIFEGAND | 1 | Mus musculus | G175 | HDLGVSVTLGA | 2 | Mus musculus, Rattus norvegicus | G175 | HDLGVGITLGA | 1 | Homo sapiens | G175 | YDLGVGIVLGA | 1 | Bos taurus | G179 | VSVTLGAHQSI | 2 | Mus musculus, Rattus norvegicus | G179 | VGITLGAHQSI | 1 | Homo sapiens | G179 | VGIVLGAHQSI | 1 | Bos taurus | G222 | TEPSSGSDAAS | 2 | Homo sapiens, Bos taurus | G222 | TEPSSGSDVAS | 2 | Mus musculus, Rattus norvegicus | G463 | FRIFEGTNDIL | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | G463 | FRIFEGANDIL | 1 | Mus musculus | I176 | DLGVSVTLGAH | 2 | Mus musculus, Rattus norvegicus | I176 | DLGVGITLGAH | 1 | Homo sapiens | I176 | DLGVGIVLGAH | 1 | Bos taurus | I184 | GAHQSIGFKGI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I250 | GSKIWISNGGL | 3 | Mus musculus, Rattus norvegicus, Bos taurus | I250 | GSKLWISNGGL | 1 | Homo sapiens | I457 | LRDLRIFRIFE | 2 | Homo sapiens, Bos taurus | I457 | LRDIRIFRIFE | 2 | Mus musculus, Rattus norvegicus | I467 | EGTNDILRLFV | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | I467 | EGANDILRLFV | 1 | Mus musculus | K299 | GPPEKKMGIKA | 2 | Homo sapiens, Bos taurus | K299 | GLPEKKMGIKA | 2 | Mus musculus, Rattus norvegicus | L144 | LGAFGLQVPSE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L144 | LGAFGLQVPNE | 1 | Bos taurus | L178 | GVSVTLGAHQS | 2 | Mus musculus, Rattus norvegicus | L178 | GVGITLGAHQS | 1 | Homo sapiens | L178 | GVGIVLGAHQS | 1 | Bos taurus | L216 | LAAFCLTEPSS | 2 | Mus musculus, Rattus norvegicus | L216 | VAAFCLTEPSS | 1 | Homo sapiens | L216 | IAAFCLTEPSS | 1 | Bos taurus | L337 | VAMHILNNGRF | 2 | Homo sapiens, Bos taurus | L337 | VAVNILNNGRF | 2 | Mus musculus, Rattus norvegicus | Q562 | GIVNEQFLLQR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q562 | DIINEQFLLQR | 1 | Bos taurus | S223 | EPSSGSDAASI | 2 | Homo sapiens, Bos taurus | S223 | EPSSGSDVASI | 2 | Mus musculus, Rattus norvegicus | S251 | SKIWISNGGLA | 3 | Mus musculus, Rattus norvegicus, Bos taurus | S251 | SKLWISNGGLA | 1 | Homo sapiens | T217 | AAFCLTEPSSG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T464 | RIFEGTNDILR | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | T464 | RIFEGANDILR | 1 | Mus musculus | V164 | QYARLVEIVGM | 2 | Homo sapiens, Bos taurus | V164 | QYARLAEIVGM | 2 | Mus musculus, Rattus norvegicus | W249 | NGSKIWISNGG | 3 | Mus musculus, Rattus norvegicus, Bos taurus | W249 | NGSKLWISNGG | 1 | Homo sapiens | Y160 | LCNTQYARLVE | 2 | Homo sapiens, Bos taurus | Y160 | LSNTQYARLAE | 2 | Mus musculus, Rattus norvegicus |
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