mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for ACP5
Gene summary
Basic gene Info.Gene symbolACP5
Gene nameacid phosphatase 5, tartrate resistant
SynonymsSPENCDI|TRAP
CytomapUCSC genome browser: 19p13.2
Type of geneprotein-coding
RefGenesNM_001111034.1,
NM_001111035.1,NM_001111036.1,NM_001611.3,
DescriptionTrATPasetartrate-resistant acid ATPasetartrate-resistant acid phosphatase type 5
Modification date20141207
dbXrefs MIM : 171640
HGNC : HGNC
Ensembl : ENSG00000102575
HPRD : 01374
Vega : OTTHUMG00000182036
ProteinUniProt: P13686
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ACP5
BioGPS: 54
PathwayNCI Pathway Interaction Database: ACP5
KEGG: ACP5
REACTOME: ACP5
Pathway Commons: ACP5
ContextiHOP: ACP5
ligand binding site mutation search in PubMed: ACP5
UCL Cancer Institute: ACP5
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for ACP5

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D92E91QBLCA1
D33W34RCOAD1
H205P207LSKCM1
Y74F73LUCEC1
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

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.
LBSAAchange of nsSNVRelative stability change
D92E91Q-1.380582
Y74F73L-1.258283
D33W34R-0.73468996
H205P207L-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)
* Left PPI network was created from samples with mutations in the LBS of ACP5 and the right PPI network was created from samples without mutations in the LBS of ACP5. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for ACP5
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1842763Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia2GeneticVariation
umls:C0028754Obesity2Biomarker
umls:C0432222Spondyloenchondrodysplasia2Biomarker
umls:C0020503Hyperparathyroidism, Secondary1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype 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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB02325Isopropyl AlcoholSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ACP5 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of ACP5
Multiple alignments for P13686 in multiple species
LBSAA sequence# speciesSpecies
D166CGNSDDFLSQQ1Homo sapiens
D166CGNSDDFVSQQ1Rattus norvegicus
D166V---EKYFTEP1Arabidopsis thaliana
D166V---KEYYTEA1Arabidopsis thaliana
D166V---DAYFLSP1Arabidopsis thaliana
D166V---DKYFIQP1Arabidopsis thaliana
D166V---DRYFDEP1Arabidopsis thaliana
D33FLVIGDWG--R3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
D33FVAVGDWGGVP2Homo sapiens, Rattus norvegicus
D33FIVIGDWG--R1Arabidopsis thaliana
D33FLVVGDWG--R1Arabidopsis thaliana
D71ILSLGDNFYFT1Homo sapiens
D71IMSLGDNFYFT1Rattus norvegicus
D71VISVGDNFYDD1Arabidopsis thaliana
D71VVSTGDNFYDN1Arabidopsis thaliana
D71VVSTGDNIYDN1Arabidopsis thaliana
D71VISTGDNFYDN1Arabidopsis thaliana
D71LISTGDNFYDD1Arabidopsis thaliana
D92QETFEDVFSDR2Homo sapiens, Rattus norvegicus
D92EASFSHIYTHP1Arabidopsis thaliana
D92EQSFSNIYTAP1Arabidopsis thaliana
D92QLSFSNIYTSP1Arabidopsis thaliana
D92QDSFTNIYTAP1Arabidopsis thaliana
D92QDSFTNIYTAT1Arabidopsis thaliana
E88DKRFQETFEDV2Homo sapiens, Rattus norvegicus
E88DPSFEASFSHI1Arabidopsis thaliana
E88DPNFEQSFSNI1Arabidopsis thaliana
E88DPAFQLSFSNI1Arabidopsis thaliana
E88DPLFQDSFTNI1Arabidopsis thaliana
E88DSQFQDSFTNI1Arabidopsis thaliana
H111VLAGNHDHLGN2Homo sapiens, Rattus norvegicus
H111SVLGNHDYRGD2Arabidopsis thaliana, Arabidopsis thaliana
H111SVLGNHDYRGN1Arabidopsis thaliana
H111LVLGNHDYRGD1Arabidopsis thaliana
H111NVLGNHDYRGN1Arabidopsis thaliana
H205VLVAGHYPVWS1Homo sapiens
H205VLVAGHYPIWS1Rattus norvegicus
H205KFVVGHHGIKT1Arabidopsis thaliana
H205KIVVGHHAMRS1Arabidopsis thaliana
H205KIVVGHHAIKS1Arabidopsis thaliana
H205KIVIGHHTIKS1Arabidopsis thaliana
H205KIVVGHHTIKS1Arabidopsis thaliana
H214KSAGHHGNTIE2Arabidopsis thaliana, Arabidopsis thaliana
H214WSIAEHGPTHC1Homo sapiens
H214WSIAEHGPTRC1Rattus norvegicus
H214KTAGNHGVTQE1Arabidopsis thaliana
H214RSIGHHGDTKE1Arabidopsis thaliana
H214KSASIHGNTKE1Arabidopsis thaliana
H240AYLCGHDHNLQ2Homo sapiens, Rattus norvegicus
H240LYMNGHDHCLQ2Arabidopsis thaliana, Arabidopsis thaliana
H240LYINGHDHCLQ1Arabidopsis thaliana
H240LYVNGHDHCLE1Arabidopsis thaliana
H240LYINGHDHCLE1Arabidopsis thaliana
H242LCGHDHNLQYL2Homo sapiens, Rattus norvegicus
H242INGHDHCLQHI1Arabidopsis thaliana
H242MNGHDHCLQHM1Arabidopsis thaliana
H242MNGHDHCLQHI1Arabidopsis thaliana
H242VNGHDHCLEHI1Arabidopsis thaliana
H242INGHDHCLEHI1Arabidopsis thaliana
N110YSVLGNHDYRG3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
N110YVLAGNHDHLG2Homo sapiens, Rattus norvegicus
N110YLVLGNHDYRG1Arabidopsis thaliana
N110YNVLGNHDYRG1Arabidopsis thaliana
Y74LGDNFYFTGVQ1Homo sapiens
Y74LGDNFYFTGVH1Rattus norvegicus
Y74VGDNFYDDGLK1Arabidopsis thaliana
Y74TGDNFYDNGLF1Arabidopsis thaliana
Y74TGDNIYDNGMK1Arabidopsis thaliana
Y74TGDNFYDNGLT1Arabidopsis thaliana
Y74TGDNFYDDGII1Arabidopsis thaliana


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