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mutLBSgeneDB |
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| Gene summary for ACADSB |
 Gene summary |
| Basic gene Info. | Gene symbol | ACADSB |
| Gene name | acyl-CoA dehydrogenase, short/branched chain | |
| Synonyms | 2-MEBCAD|ACAD7|SBCAD | |
| Cytomap | UCSC genome browser: 10q26.13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001609.3, | |
| Description | 2-methyl branched chain acyl-CoA dehydrogenase2-methylbutyryl-coenzyme A dehydrogenaseacyl-Coenzyme A dehydrogenase, short/branched chainshort/branched chain specific acyl-CoA dehydrogenase, mitochondrial | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600301 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000196177 | ||
| HPRD : 02626 | ||
| Vega : OTTHUMG00000019200 | ||
| Protein | UniProt: P45954 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ACADSB | |
| BioGPS: 36 | ||
| Pathway | NCI Pathway Interaction Database: ACADSB | |
| KEGG: ACADSB | ||
| REACTOME: ACADSB | ||
| Pathway Commons: ACADSB | ||
| Context | iHOP: ACADSB | |
| ligand binding site mutation search in PubMed: ACADSB | ||
| UCL Cancer Institute: ACADSB | ||
| 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 ACADSB |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F174 | F174V | COAD | 1 | R294 | R294T | HNSC | 1 | F329 | Q330R | PRAD | 1 | I419 | Q420E | SKCM | 1 | S177 | E178D | STAD | 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 ACADSB |
| 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 | R294 | R294T | -1.4170725 | I419 | Q420E | -1.0052635 | S177 | E178D | -0.99720061 | F174 | F174V | -0.079918771 | F329 | Q330R | -0.037418144 |
| (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 ACADSB from PDB |
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| Differential gene expression and gene-gene network for ACADSB |
| 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 ACADSB |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1864912 | 2-Methylbutyryl-CoA Dehydrogenase Deficiency | 1 | Biomarker, GeneticVariation |
| umls:C0004352 | Autistic Disorder | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ACADSB |
| 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 |
| Approved|nutraceutical | DB00167 | L-Isoleucine | Small molecule |  |
| Approved|investigational | DB00313 | Valproic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ACADSB go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FAD | FAD | 2jif | A | F174 S177 I419 | FAD | FAD | 2jif | B | F174 S177 I419 | FAD | FAD | 2jif | C | F174 S177 I419 | FAD | FAD | 2jif | D | F174 S177 I419 | FAD | FAD | 2jif | A | F329 | FAD | FAD | 2jif | B | F329 | FAD | FAD | 2jif | C | F329 | FAD | FAD | 2jif | D | F329 | COS | COENZYME A PERSULFIDE | 2jif | A | R294 I419 | COS | COENZYME A PERSULFIDE | 2jif | B | R294 I419 | COS | COENZYME A PERSULFIDE | 2jif | C | R294 I419 | COS | COENZYME A PERSULFIDE | 2jif | D | R294 I419 |
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| Conservation information for LBS of ACADSB |
| Multiple alignments for P45954 in multiple species |
| LBS | AA sequence | # species | Species | A416 | TIYEGASNIQL | 2 | Homo sapiens, Mus musculus | A416 | TIYEGTSNIQL | 2 | Bos taurus, Rattus norvegicus | E387 | TSKCIEWMGGV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | E414 | IGTIYEGASNI | 2 | Homo sapiens, Mus musculus | E414 | IGTIYEGTSNI | 2 | Bos taurus, Rattus norvegicus | F174 | EKLGSFCLSEA | 2 | Mus musculus, Rattus norvegicus | F174 | EKVGSFCLSEA | 1 | Homo sapiens | F174 | EKASSICISET | 1 | Bos taurus | F186 | AGSDSFALKTR | 2 | Homo sapiens, Rattus norvegicus | F186 | AGSDSFAMKTR | 2 | Bos taurus, Mus musculus | F322 | KERMQFGKRIF | 2 | Mus musculus, Rattus norvegicus | F322 | KERIQFGKRLF | 1 | Homo sapiens | F322 | KERKQFGRRVF | 1 | Bos taurus | F329 | KRIFDFQGLQH | 2 | Mus musculus, Rattus norvegicus | F329 | KRLFDFQGLQH | 1 | Homo sapiens | F329 | RRVFDFQGLQH | 1 | Bos taurus | G182 | SEAGAGSDSFA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G182 | SETGAGSDSFA | 1 | Bos taurus | G391 | IEWMGGVGYTK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G415 | GTIYEGASNIQ | 2 | Homo sapiens, Mus musculus | G415 | GTIYEGTSNIQ | 2 | Bos taurus, Rattus norvegicus | I208 | GSKMWISSAEH | 1 | Homo sapiens | I208 | GSKMWISSAEI | 1 | Bos taurus | I208 | GSKMWISHAEH | 1 | Mus musculus | I208 | GSKMWISNAEH | 1 | Rattus norvegicus | I287 | GYKYAIGSLNE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I409 | FRDAKIGTIYE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I412 | AKIGTIYEGAS | 2 | Homo sapiens, Mus musculus | I412 | AKIGTIYEGTS | 2 | Bos taurus, Rattus norvegicus | I419 | EGASNIQLNTI | 2 | Homo sapiens, Mus musculus | I419 | EGTSNIQLNTI | 2 | Bos taurus, Rattus norvegicus | K252 | GKPENKLGLRA | 1 | Homo sapiens | K252 | GKPENKLGIRA | 1 | Bos taurus | K252 | GKRENKMGIRA | 1 | Mus musculus | K252 | GRRENKMGIRA | 1 | Rattus norvegicus | L176 | LGSFCLSEAGA | 2 | Mus musculus, Rattus norvegicus | L176 | VGSFCLSEAGA | 1 | Homo sapiens | L176 | ASSICISETGA | 1 | Bos taurus | L290 | YAIGSLNEGRI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L326 | QFGKRIFDFQG | 2 | Mus musculus, Rattus norvegicus | L326 | QFGKRLFDFQG | 1 | Homo sapiens | L326 | QFGRRVFDFQG | 1 | Bos taurus | L332 | FDFQGLQHQVA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N291 | AIGSLNEGRIG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N418 | YEGASNIQLNT | 2 | Homo sapiens, Mus musculus | N418 | YEGTSNIQLNT | 2 | Bos taurus, Rattus norvegicus | N422 | SNIQLNTIAKH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N422 | SNIQLNTIAKC | 1 | Bos taurus | Q321 | IKERMQFGKRI | 2 | Mus musculus, Rattus norvegicus | Q321 | IKERIQFGKRL | 1 | Homo sapiens | Q321 | IKERKQFGRRV | 1 | Bos taurus | R294 | SLNEGRIGIAA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R319 | PYIKERMQFGK | 2 | Mus musculus, Rattus norvegicus | R319 | PYIKERIQFGK | 1 | Homo sapiens | R319 | PYIKERKQFGR | 1 | Bos taurus | S177 | GSFCLSEAGAG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S177 | SSICISETGAG | 1 | Bos taurus | S183 | EAGAGSDSFAL | 2 | Homo sapiens, Rattus norvegicus | S183 | ETGAGSDSFAM | 1 | Bos taurus | S183 | EAGAGSDSFAM | 1 | Mus musculus | S185 | GAGSDSFALKT | 2 | Homo sapiens, Rattus norvegicus | S185 | GAGSDSFAMKT | 2 | Bos taurus, Mus musculus | S209 | SKMWISSAEHA | 1 | Homo sapiens | S209 | SKMWISSAEIA | 1 | Bos taurus | S209 | SKMWISHAEHA | 1 | Mus musculus | S209 | SKMWISNAEHA | 1 | Rattus norvegicus | T260 | IRASSTCQLTF | 2 | Mus musculus, Rattus norvegicus | T260 | LRASSTCPLTF | 1 | Homo sapiens | T260 | IRASSTCPVTF | 1 | Bos taurus | W207 | NGSKMWISSAE | 2 | Homo sapiens, Bos taurus | W207 | NGSKMWISHAE | 1 | Mus musculus | W207 | NGSKMWISNAE | 1 | Rattus norvegicus | W388 | SKCIEWMGGVG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y229 | DPTIGYKGITS | 1 | Homo sapiens | Y229 | DFSAGYKGITC | 1 | Bos taurus | Y229 | DPSSGYRGITC | 1 | Mus musculus | Y229 | DPPSGYRGITC | 1 | Rattus norvegicus | Y283 | KIGHGYKYAIG | 2 | Mus musculus, Rattus norvegicus | Y283 | QIGHGYKYAIG | 1 | Homo sapiens | Y283 | QVGHGYKYAIG | 1 | Bos taurus | Y413 | KIGTIYEGASN | 2 | Homo sapiens, Mus musculus | Y413 | KIGTIYEGTSN | 2 | Bos taurus, Rattus norvegicus |
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