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mutLBSgeneDB |
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| Gene summary for ACP5 |
 Gene summary |
| Basic gene Info. | Gene symbol | ACP5 |
| Gene name | acid phosphatase 5, tartrate resistant | |
| Synonyms | SPENCDI|TRAP | |
| Cytomap | UCSC genome browser: 19p13.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001111034.1, NM_001111035.1,NM_001111036.1,NM_001611.3, | |
| Description | TrATPasetartrate-resistant acid ATPasetartrate-resistant acid phosphatase type 5 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 171640 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000102575 | ||
| HPRD : 01374 | ||
| Vega : OTTHUMG00000182036 | ||
| Protein | UniProt: P13686 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ACP5 | |
| BioGPS: 54 | ||
| Pathway | NCI Pathway Interaction Database: ACP5 | |
| KEGG: ACP5 | ||
| REACTOME: ACP5 | ||
| Pathway Commons: ACP5 | ||
| Context | iHOP: ACP5 | |
| ligand binding site mutation search in PubMed: ACP5 | ||
| UCL Cancer Institute: ACP5 | ||
| 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 ACP5 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D92 | E91Q | BLCA | 1 | D33 | W34R | COAD | 1 | H205 | P207L | SKCM | 1 | Y74 | F73L | 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 ACP5 |
| 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 | D92 | E91Q | -1.380582 | Y74 | F73L | -1.258283 | D33 | W34R | -0.73468996 | H205 | P207L | -0.55504304 |
| (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 ACP5 from PDB |
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| Differential gene expression and gene-gene network for ACP5 |
| 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 ACP5 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1842763 | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | 2 | GeneticVariation |
| umls:C0028754 | Obesity | 2 | Biomarker |
| umls:C0432222 | Spondyloenchondrodysplasia | 2 | Biomarker |
| umls:C0020503 | Hyperparathyroidism, Secondary | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ACP5 |
| 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 | DB02325 | Isopropyl Alcohol | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ACP5 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 ACP5 |
| Multiple alignments for P13686 in multiple species |
| LBS | AA sequence | # species | Species | D166 | CGNSDDFLSQQ | 1 | Homo sapiens | D166 | CGNSDDFVSQQ | 1 | Rattus norvegicus | D166 | V---EKYFTEP | 1 | Arabidopsis thaliana | D166 | V---KEYYTEA | 1 | Arabidopsis thaliana | D166 | V---DAYFLSP | 1 | Arabidopsis thaliana | D166 | V---DKYFIQP | 1 | Arabidopsis thaliana | D166 | V---DRYFDEP | 1 | Arabidopsis thaliana | D33 | FLVIGDWG--R | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | D33 | FVAVGDWGGVP | 2 | Homo sapiens, Rattus norvegicus | D33 | FIVIGDWG--R | 1 | Arabidopsis thaliana | D33 | FLVVGDWG--R | 1 | Arabidopsis thaliana | D71 | ILSLGDNFYFT | 1 | Homo sapiens | D71 | IMSLGDNFYFT | 1 | Rattus norvegicus | D71 | VISVGDNFYDD | 1 | Arabidopsis thaliana | D71 | VVSTGDNFYDN | 1 | Arabidopsis thaliana | D71 | VVSTGDNIYDN | 1 | Arabidopsis thaliana | D71 | VISTGDNFYDN | 1 | Arabidopsis thaliana | D71 | LISTGDNFYDD | 1 | Arabidopsis thaliana | D92 | QETFEDVFSDR | 2 | Homo sapiens, Rattus norvegicus | D92 | EASFSHIYTHP | 1 | Arabidopsis thaliana | D92 | EQSFSNIYTAP | 1 | Arabidopsis thaliana | D92 | QLSFSNIYTSP | 1 | Arabidopsis thaliana | D92 | QDSFTNIYTAP | 1 | Arabidopsis thaliana | D92 | QDSFTNIYTAT | 1 | Arabidopsis thaliana | E88 | DKRFQETFEDV | 2 | Homo sapiens, Rattus norvegicus | E88 | DPSFEASFSHI | 1 | Arabidopsis thaliana | E88 | DPNFEQSFSNI | 1 | Arabidopsis thaliana | E88 | DPAFQLSFSNI | 1 | Arabidopsis thaliana | E88 | DPLFQDSFTNI | 1 | Arabidopsis thaliana | E88 | DSQFQDSFTNI | 1 | Arabidopsis thaliana | H111 | VLAGNHDHLGN | 2 | Homo sapiens, Rattus norvegicus | H111 | SVLGNHDYRGD | 2 | Arabidopsis thaliana, Arabidopsis thaliana | H111 | SVLGNHDYRGN | 1 | Arabidopsis thaliana | H111 | LVLGNHDYRGD | 1 | Arabidopsis thaliana | H111 | NVLGNHDYRGN | 1 | Arabidopsis thaliana | H205 | VLVAGHYPVWS | 1 | Homo sapiens | H205 | VLVAGHYPIWS | 1 | Rattus norvegicus | H205 | KFVVGHHGIKT | 1 | Arabidopsis thaliana | H205 | KIVVGHHAMRS | 1 | Arabidopsis thaliana | H205 | KIVVGHHAIKS | 1 | Arabidopsis thaliana | H205 | KIVIGHHTIKS | 1 | Arabidopsis thaliana | H205 | KIVVGHHTIKS | 1 | Arabidopsis thaliana | H214 | KSAGHHGNTIE | 2 | Arabidopsis thaliana, Arabidopsis thaliana | H214 | WSIAEHGPTHC | 1 | Homo sapiens | H214 | WSIAEHGPTRC | 1 | Rattus norvegicus | H214 | KTAGNHGVTQE | 1 | Arabidopsis thaliana | H214 | RSIGHHGDTKE | 1 | Arabidopsis thaliana | H214 | KSASIHGNTKE | 1 | Arabidopsis thaliana | H240 | AYLCGHDHNLQ | 2 | Homo sapiens, Rattus norvegicus | H240 | LYMNGHDHCLQ | 2 | Arabidopsis thaliana, Arabidopsis thaliana | H240 | LYINGHDHCLQ | 1 | Arabidopsis thaliana | H240 | LYVNGHDHCLE | 1 | Arabidopsis thaliana | H240 | LYINGHDHCLE | 1 | Arabidopsis thaliana | H242 | LCGHDHNLQYL | 2 | Homo sapiens, Rattus norvegicus | H242 | INGHDHCLQHI | 1 | Arabidopsis thaliana | H242 | MNGHDHCLQHM | 1 | Arabidopsis thaliana | H242 | MNGHDHCLQHI | 1 | Arabidopsis thaliana | H242 | VNGHDHCLEHI | 1 | Arabidopsis thaliana | H242 | INGHDHCLEHI | 1 | Arabidopsis thaliana | N110 | YSVLGNHDYRG | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | N110 | YVLAGNHDHLG | 2 | Homo sapiens, Rattus norvegicus | N110 | YLVLGNHDYRG | 1 | Arabidopsis thaliana | N110 | YNVLGNHDYRG | 1 | Arabidopsis thaliana | Y74 | LGDNFYFTGVQ | 1 | Homo sapiens | Y74 | LGDNFYFTGVH | 1 | Rattus norvegicus | Y74 | VGDNFYDDGLK | 1 | Arabidopsis thaliana | Y74 | TGDNFYDNGLF | 1 | Arabidopsis thaliana | Y74 | TGDNIYDNGMK | 1 | Arabidopsis thaliana | Y74 | TGDNFYDNGLT | 1 | Arabidopsis thaliana | Y74 | TGDNFYDDGII | 1 | Arabidopsis thaliana |
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