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mutLBSgeneDB |
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| Gene summary for ACOT12 |
 Gene summary |
| Basic gene Info. | Gene symbol | ACOT12 |
| Gene name | acyl-CoA thioesterase 12 | |
| Synonyms | CACH-1|Cach|STARD15|THEAL | |
| Cytomap | UCSC genome browser: 5q14.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_130767.2, | |
| Description | START domain-containing protein 15StAR-related lipid transfer (START) domain containing 15acyl-CoA thioester hydrolase 12acyl-coenzyme A thioesterase 12cytoplasmic acetyl-CoA hydrolase 1cytosolic acetyl-CoA hydrolasehCACH-1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 614315 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000172497 | ||
| HPRD : 16680 | ||
| Vega : OTTHUMG00000131305 | ||
| Protein | UniProt: Q8WYK0 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ACOT12 | |
| BioGPS: 134526 | ||
| Pathway | NCI Pathway Interaction Database: ACOT12 | |
| KEGG: ACOT12 | ||
| REACTOME: ACOT12 | ||
| Pathway Commons: ACOT12 | ||
| Context | iHOP: ACOT12 | |
| ligand binding site mutation search in PubMed: ACOT12 | ||
| UCL Cancer Institute: ACOT12 | ||
| 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 ACOT12 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S84 | E86D | HNSC | 1 | S84 | S84N | STAD | 1 | I281 | R279C | 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 ACOT12 |
| 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 | S84 | S84N | -1.2330129 | I281 | R279C | -1.2151255 | S84 | E86D | -1.1618929 |
| (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 ACOT12 from PDB |
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| Differential gene expression and gene-gene network for ACOT12 |
| 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 ACOT12 |
| 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 ACOT12 |
| 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 ACOT12 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | COA | COENZYME A | 3b7k | B | I281 | COA | COENZYME A | 3b7k | C | S84 | COA | COENZYME A | 3b7k | A | S84 I281 |
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| Conservation information for LBS of ACOT12 |
| Multiple alignments for Q8WYK0 in multiple species |
| LBS | AA sequence | # species | Species | A54 | ISCVTASMDDI | 2 | Mus musculus, Rattus norvegicus | A54 | VSCVTASVDDI | 1 | Homo sapiens | F235 | VDMFKFRGPST | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F81 | KVTRAFSTSME | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G202 | HGNTFGGQIMA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G237 | MFKFRGPSTVG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I205 | TFGGQIMAWME | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I281 | GQGRHINSAFL | 2 | Mus musculus, Rattus norvegicus | I281 | GRGRHINSAFL | 1 | Homo sapiens | K234 | SVDMFKFRGPS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L148 | RRKVRLQHENT | 2 | Mus musculus, Rattus norvegicus | L148 | RRKVRLQHEDT | 1 | Homo sapiens | P238 | FKFRGPSTVGD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R144 | LASERRKVRLQ | 2 | Mus musculus, Rattus norvegicus | R144 | LAAERRKVRLQ | 1 | Homo sapiens | R236 | DMFKFRGPSTV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S239 | KFRGPSTVGDR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S55 | SCVTASMDDIL | 2 | Mus musculus, Rattus norvegicus | S55 | SCVTASVDDIQ | 1 | Homo sapiens | S82 | VTRAFSTSMEI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S84 | RAFSTSMEISI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T110 | SVAFSTFVAKP | 1 | Homo sapiens | T110 | CVAFSTFVAKP | 1 | Mus musculus | T110 | CVAFSTFVVKP | 1 | Rattus norvegicus | T200 | NHHGNTFGGQI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T53 | GISCVTASMDD | 2 | Mus musculus, Rattus norvegicus | T53 | GVSCVTASVDD | 1 | Homo sapiens | T83 | TRAFSTSMEIS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V112 | AFSTFVAKPVG | 2 | Homo sapiens, Mus musculus | V112 | AFSTFVVKPLG | 1 | Rattus norvegicus | V52 | AGISCVTASMD | 2 | Mus musculus, Rattus norvegicus | V52 | AGVSCVTASVD | 1 | Homo sapiens |
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