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 ALPP

Gene summary

Basic gene Info.	Gene symbol	ALPP
	Gene name	alkaline phosphatase, placental
	Synonyms	ALP\|PALP\|PLAP\|PLAP-1
	Cytomap	UCSC genome browser: 2q37
	Type of gene	protein-coding
	RefGenes	NM_001632.3,
	Description	Regan isozymealkaline phosphatase Regan isozymealkaline phosphatase, placental typealkaline phosphomonoesteraseglycerophosphataseplacental alkaline phosphatase 1
	Modification date	20141207
dbXrefs	MIM : 171800
	HGNC : HGNC
	Ensembl : ENSG00000163283
	Vega : OTTHUMG00000133255
Protein	UniProt: P05187 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ALPP
	BioGPS: 250
Pathway	NCI Pathway Interaction Database: ALPP
	KEGG: ALPP
	REACTOME: ALPP
	Pathway Commons: ALPP
Context	iHOP: ALPP
	ligand binding site mutation search in PubMed: ALPP
	UCL Cancer Institute: ALPP
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
GO:0016311	dephosphorylation	2017684

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Ligand binding site mutations for ALPP

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
R319	R319C	STAD	2
D307	P308L	OV	1
D64	M66I	SKCM	1
D338	R336C	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 ALPP

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.

LBS	AAchange of nsSNV	Relative stability change
D64	M66I	-0.77895814
D338	R336C	-0.47727031
D307	P308L	-0.27557205
R319	R319C	-0.027690504

(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 ALPP from PDB

PDB ID	PDB title	PDB structure
1EW2	CRYSTAL STRUCTURE OF A HUMAN PHOSPHATASE

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Differential gene expression and gene-gene network for ALPP

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 ALPP and the right PPI network was created from samples without mutations in the LBS of ALPP. 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 ALPP

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 ALPP

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.