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 MAPRE1

Gene summary

Basic gene Info.	Gene symbol	MAPRE1
	Gene name	microtubule-associated protein, RP/EB family, member 1
	Synonyms	EB1
	Cytomap	UCSC genome browser: 20q11.1-q11.23
	Type of gene	protein-coding
	RefGenes	NM_012325.2,
	Description	APC-binding protein EB1adenomatous polyposis coli-binding protein EB1end-binding protein 1microtubule-associated protein RP/EB family member 1
	Modification date	20141207
dbXrefs	MIM : 603108
	HGNC : HGNC
	Ensembl : ENSG00000101367
	HPRD : 04379
	Vega : OTTHUMG00000032228
Protein	UniProt: Q15691 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_MAPRE1
	BioGPS: 22919
Pathway	NCI Pathway Interaction Database: MAPRE1
	KEGG: MAPRE1
	REACTOME: MAPRE1
	Pathway Commons: MAPRE1
Context	iHOP: MAPRE1
	ligand binding site mutation search in PubMed: MAPRE1
	UCL Cancer Institute: MAPRE1
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:0031115	negative regulation of microtubule polymerization	11943150
GO:0035372	protein localization to microtubule	19632184

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Ligand binding site mutations for MAPRE1

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
P256	D257N	LUAD	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 MAPRE1

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
P256	D257N	-0.85545037

(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 MAPRE1 from PDB

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Differential gene expression and gene-gene network for MAPRE1

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 MAPRE1 and the right PPI network was created from samples without mutations in the LBS of MAPRE1. 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 MAPRE1

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0151744	Myocardial Ischemia	1	Biomarker
umls:C0043094	Weight Gain	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for MAPRE1

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.

Drug information targeting mutLBSgene (Approved drugs only)

Drug status

DrugBank ID

Name

Type

Drug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MAPRE1 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
III		Peptide ligand (LYS,PRO,SER,LYS,ILE,PRO,THR,PRO,GLN,ARG,LYS)	3gjo	A	P256
III		Peptide ligand (LYS,PRO,SER,LYS,ILE,PRO,THR,PRO,GLN)	3gjo	B	P256
III		Peptide ligand (PRO,SER,LYS,ILE,PRO,THR,PRO,GLN)	3gjo	C	P256

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Conservation information for LBS of MAPRE1

Multiple alignments for Q15691 in multiple species

LBS	AA sequence	# species	Species
A248	VDILYATDEGF	4	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
A248	ESILYATAEGF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A248	QAILYSTEDGF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A248	KRILYAADGED	1	Arabidopsis thaliana
A248	IEILYATDEGF	1	Xenopus tropicalis
A248	VEILYATDEGF	1	Gallus gallus
E213	EDLEKERDFYF	6	Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
E213	STLEIEREFYF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E213	FGLERERDFYF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E213	DSLEKERDFYF	1	Arabidopsis thaliana
E225	KLRNIELICQE	6	Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
E225	KLRDIEILVHT	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E225	KLREIEILVQT	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E225	KLRDVEILCQN	1	Arabidopsis thaliana
F216	EKERDFYFGKL	6	Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
F216	EIEREFYFNKL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F216	ERERDFYFNKL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F216	EKERDFYFSKL	1	Arabidopsis thaliana
F218	ERDFYFGKLRN	6	Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
F218	EREFYFNKLRD	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F218	ERDFYFNKLRE	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F218	ERDFYFSKLRD	1	Arabidopsis thaliana
F253	ATDEGF-----	6	Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
F253	ATAEGFEMNDG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F253	STEDGF-----	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F253	AADGED-----	1	Arabidopsis thaliana
G252	YATDEGF----	6	Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
G252	YATAEGFEMND	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G252	YSTEDGF----	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G252	YAADGED----	1	Arabidopsis thaliana
I255	----VIPDEGG	4	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
I255	----VIPDEGA	2	Xenopus tropicalis, Gallus gallus
I255	GEHGTVPNQGG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I255	----ELPPDQP	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I255	ETQTLSPIAEG	1	Arabidopsis thaliana
I91	GVDKIIPVDKL	6	Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
I91	GIEKTVYVDKL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I91	GIDKVVDPERL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I91	KITKHIEVSKL	1	Arabidopsis thaliana
K220	DFYFGKLRNIE	6	Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
K220	EFYFNKLRDIE	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K220	DFYFNKLREIE	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K220	DFYFSKLRDVE	1	Arabidopsis thaliana
L221	FYFGKLRNIEL	6	Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
L221	FYFNKLRDIEI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L221	FYFNKLREIEI	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L221	FYFSKLRDVEI	1	Arabidopsis thaliana
L246	RIVDILYATDE	4	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
L246	KVESILYATAE	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L246	RIQAILYSTED	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L246	SIKRILYAADG	1	Arabidopsis thaliana
L246	RIIEILYATDE	1	Xenopus tropicalis
L246	RIVEILYATDE	1	Gallus gallus
P256	---VIPDEGGP	4	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
P256	---VIPDEGAP	2	Xenopus tropicalis, Gallus gallus
P256	EHGTVPNQGGY	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P256	---ELPPDQPA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P256	TQTLSPIAEGS	1	Arabidopsis thaliana
P53	MDMLFPGSIAL	4	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
P53	MDSIY-GDLPM	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P53	FDSIYQ-DIPL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P53	MDSVHPGTVPM	1	Arabidopsis thaliana
P53	MDMLFPGSVVL	1	Xenopus tropicalis
P53	MDMLFPGSVAL	1	Gallus gallus
Q229	IELICQE----	6	Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
Q229	IEILVHTTQDL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q229	IEILVQT----	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q229	VEILCQN----	1	Arabidopsis thaliana
R17	SDNLSRHDMLA	6	Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
R17	--GESRTELLT	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R17	-MSESRQELLA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R17	AYFVGRSEILA	1	Arabidopsis thaliana
R222	YFGKLRNIELI	6	Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
R222	YFNKLRDIEIL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R222	YFNKLREIEIL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R222	YFSKLRDVEIL	1	Arabidopsis thaliana
S16	TSDNLSRHDML	6	Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
S16	---GESRTELL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S16	--MSESRQELL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S16	SAYFVGRSEIL	1	Arabidopsis thaliana
T249	DILYATDEGF-	4	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
T249	EILYATDEGF-	2	Xenopus tropicalis, Gallus gallus
T249	SILYATAEGFE	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T249	AILYSTEDGF-	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T249	RILYAADGED-	1	Arabidopsis thaliana
V254	-----VIPDEG	6	Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
V254	LGEHGTVPNQG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V254	-----ELPPDQ	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V254	AETQTLSPIAE	1	Arabidopsis thaliana
Y217	KERDFYFGKLR	6	Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
Y217	IEREFYFNKLR	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y217	RERDFYFNKLR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y217	KERDFYFSKLR	1	Arabidopsis thaliana
Y247	IVDILYATDEG	4	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
Y247	VESILYATAEG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y247	IQAILYSTEDG	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y247	IKRILYAADGE	1	Arabidopsis thaliana
Y247	IIEILYATDEG	1	Xenopus tropicalis
Y247	IVEILYATDEG	1	Gallus gallus