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mutLBSgeneDB |
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| Gene summary for ACBD7 |
 Gene summary |
| Basic gene Info. | Gene symbol | ACBD7 |
| Gene name | acyl-CoA binding domain containing 7 | |
| Synonyms | bA455B2.2 | |
| Cytomap | UCSC genome browser: 10p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001039844.2, | |
| Description | acyl-CoA-binding domain-containing protein 7acyl-Coenzyme A binding domain containing 7 | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Protein | UniProt: Q8N6N7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ACBD7 | |
| BioGPS: 414149 | ||
| Pathway | NCI Pathway Interaction Database: ACBD7 | |
| KEGG: ACBD7 | ||
| REACTOME: ACBD7 | ||
| Pathway Commons: ACBD7 | ||
| Context | iHOP: ACBD7 | |
| ligand binding site mutation search in PubMed: ACBD7 | ||
| UCL Cancer Institute: ACBD7 | ||
| 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 ACBD7 |
| 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 | R15 | K16N | KIRC | 1 | K56 | A55S | UCEC | 1 | L29 | E28Q | 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 ACBD7 |
| 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 | L29 | E28Q | -0.93593774 | K56 | A55S | -0.75628091 | R15 | K16N | -0.6091315 |
| (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 ACBD7 from PDB |
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| Differential gene expression and gene-gene network for ACBD7 |
| 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 ACBD7 |
| 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 ACBD7 |
| 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 ACBD7 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | COA | COENZYME A | 3epy | A | K56 | COA | COENZYME A | 3epy | B | K56 | COA | COENZYME A | 3epy | B | R15 | COA | COENZYME A | 3epy | A | R15 L29 |
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| Conservation information for LBS of ACBD7 |
| Multiple alignments for Q8N6N7 in multiple species |
| LBS | AA sequence | # species | Species | A11 | DFDRAAEDVRK | 1 | Homo sapiens | A11 | DFDKAAKDVRK | 1 | Bos taurus | A11 | DFDQAAQDVRK | 1 | Mus musculus | K34 | LYGLYKQSVIG | 2 | Bos taurus, Mus musculus | K34 | LYGLYKQAIVG | 1 | Homo sapiens | K56 | LKGKAKWEAWN | 3 | Homo sapiens, Bos taurus, Mus musculus | L29 | EELKELYGLYK | 2 | Bos taurus, Mus musculus | L29 | GELKELYGLYK | 1 | Homo sapiens | R15 | AAEDVRKLKAR | 1 | Homo sapiens | R15 | AAKDVRKLKTR | 1 | Bos taurus | R15 | AAQDVRKLKSR | 1 | Mus musculus | Y30 | ELKELYGLYKQ | 3 | Homo sapiens, Bos taurus, Mus musculus | Y33 | ELYGLYKQSVI | 2 | Bos taurus, Mus musculus | Y33 | ELYGLYKQAIV | 1 | Homo sapiens | Y75 | DATSAYISKAK | 1 | Homo sapiens | Y75 | DAMNAYISKAK | 1 | Bos taurus | Y75 | DAMCAYISKAR | 1 | Mus musculus |
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