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 MAD2L1

Gene summary

Basic gene Info.	Gene symbol	MAD2L1
	Gene name	MAD2 mitotic arrest deficient-like 1 (yeast)
	Synonyms	HSMAD2\|MAD2
	Cytomap	UCSC genome browser: 4q27
	Type of gene	protein-coding
	RefGenes	NM_002358.3,
	Description	MAD2 (mitotic arrest deficient, yeast, homolog)-like 1MAD2-like protein 1mitotic arrest deficient 2-like protein 1mitotic arrest deficient, yeast, homolog-like 1mitotic spindle assembly checkpoint protein MAD2A
	Modification date	20141207
dbXrefs	MIM : 601467
	HGNC : HGNC
	HPRD : 03274
Protein	UniProt: Q13257 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_MAD2L1
	BioGPS: 4085
Pathway	NCI Pathway Interaction Database: MAD2L1
	KEGG: MAD2L1
	REACTOME: MAD2L1
	Pathway Commons: MAD2L1
Context	iHOP: MAD2L1
	ligand binding site mutation search in PubMed: MAD2L1
	UCL Cancer Institute: MAD2L1
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:0007093	mitotic cell cycle checkpoint	8824189
GO:0042177	negative regulation of protein catabolic process	11459825
GO:0060564	negative regulation of mitotic anaphase-promoting complex activity	11459825

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Ligand binding site mutations for MAD2L1

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
W75	Y77F	BRCA	1
P172	P172T	BRCA	1
W167	W167L	LUAD	1
L161	L161W	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 MAD2L1

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
L161	L161W	-1.4782861
P172	P172T	-1.3684436
W75	Y77F	-1.1832062
W167	W167L	-0.12940114

(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 MAD2L1 from PDB

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Differential gene expression and gene-gene network for MAD2L1

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 MAD2L1 and the right PPI network was created from samples without mutations in the LBS of MAD2L1. 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 MAD2L1

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0279626	Esophageal Squamous Cell Carcinoma	1	Biomarker
umls:C0017661	Glomerulonephritis, IGA	1	Biomarker
umls:C0032460	Polycystic Ovary Syndrome	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for MAD2L1

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 MAD2L1 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
III		Peptide ligand (SER,TRP,TYR,SER,TYR,PRO,PRO,PRO,GLN,ARG,ALA)	2qyf	A	W167 P172
III		Peptide ligand (SER,TRP,TYR,SER,TYR,PRO,PRO,PRO,GLN,ARG)	2qyf	C	W167 P172
III		Peptide ligand (SER,TRP,TYR,SER,TYR,PRO,PRO,PRO,GLN,ARG)	2v64	A	W167 P172
III		Peptide ligand (SER,TRP,TYR,SER,TYR,PRO,PRO,PRO,GLN,ARG,ALA)	2v64	C	W167 P172
III		Peptide ligand (SER,TRP,TYR,SER,TYR,PRO,PRO,PRO,GLN,ARG)	2v64	F	W167 P172

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Conservation information for LBS of MAD2L1

Multiple alignments for Q13257 in multiple species

LBS	AA sequence	# species	Species
C149	EVS--CSFDLL	2	Homo sapiens, Mus musculus
C149	TKEGGYTFTVL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C149	EEQ--CTFNVL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C149	DET--CVFDVL	1	Arabidopsis thaliana
D152	--CSFDLLIYT	2	Homo sapiens, Mus musculus
D152	GGYTFTVLAYT	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D152	--CTFNVLVYA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D152	--CVFDVLAYT	1	Arabidopsis thaliana
D158	LLIYTDKDLVV	2	Homo sapiens, Mus musculus
D158	VLAYTDADAKV	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D158	VLVYADKDSEV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D158	VLAYTDTDVAV	1	Arabidopsis thaliana
D160	IYTDKDLVVPE	2	Homo sapiens, Mus musculus
D160	AYTDADAKVPL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D160	VYADKDSEVPT	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D160	AYTDTDVAVPF	1	Arabidopsis thaliana
D58	LLVTTDLELIK	1	Homo sapiens
D58	LLKTHDDELKD	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D58	MLVSVDEEVKT	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D58	MLLIEDESVKS	1	Arabidopsis thaliana
D58	LLTTTDPELIK	1	Mus musculus
E168	VPEKWEESGPQ	2	Homo sapiens, Mus musculus
E168	VPLEWADSNSK	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E168	VPTDWVDSDPR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E168	VPFTWIESDPK	1	Arabidopsis thaliana
E169	PEKWEESGPQF	2	Homo sapiens, Mus musculus
E169	PLEWADSNSKE	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E169	PTDWVDSDPRI	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E169	PFTWIESDPKL	1	Arabidopsis thaliana
E60	VTTDLELIKYL	1	Homo sapiens
E60	KTHDDELKDYI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E60	VSVDEEVKTYI	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E60	LIEDESVKSFM	1	Arabidopsis thaliana
E60	TTTDPELIKYL	1	Mus musculus
F151	S--CSFDLLIY	2	Homo sapiens, Mus musculus
F151	EGGYTFTVLAY	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F151	Q--CTFNVLVY	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F151	T--CVFDVLAY	1	Arabidopsis thaliana
F174	ESGPQFITNSE	1	Homo sapiens
F174	DSNSKEIPDGE	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F174	DSDPRILRDAE	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F174	ESDPKLIANPQ	1	Arabidopsis thaliana
F174	ESGPQFITNCE	1	Mus musculus
G171	KWEESGPQFIT	2	Homo sapiens, Mus musculus
G171	EWADSNSKEIP	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G171	DWVDSDPRILR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G171	TWIESDPKLIA	1	Arabidopsis thaliana
I155	SFDLLIYTDKD	2	Homo sapiens, Mus musculus
I155	TFTVLAYTDAD	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I155	TFNVLVYADKD	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I155	VFDVLAYTDTD	1	Arabidopsis thaliana
I37	LYQRGIYPSET	2	Homo sapiens, Mus musculus
I37	LYQRGVYPAED	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I37	LFQRGIYPAED	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I37	LYNRAVYPEES	1	Arabidopsis thaliana
K159	LIYTDKDLVVP	2	Homo sapiens, Mus musculus
K159	LAYTDADAKVP	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K159	LVYADKDSEVP	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K159	LAYTDTDVAVP	1	Arabidopsis thaliana
K166	LVVPEKWEESG	2	Homo sapiens, Mus musculus
K166	AKVPLEWADSN	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K166	SEVPTDWVDSD	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K166	VAVPFTWIESD	1	Arabidopsis thaliana
K83	KCSVQKLVVVI	2	Homo sapiens, Mus musculus
K83	GGKCNQLVLCI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K83	AKKIQKLILVI	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K83	AGKLQRVVLVI	1	Arabidopsis thaliana
L153	-CSFDLLIYTD	2	Homo sapiens, Mus musculus
L153	GYTFTVLAYTD	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L153	-CTFNVLVYAD	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L153	-CVFDVLAYTD	1	Arabidopsis thaliana
L154	CSFDLLIYTDK	2	Homo sapiens, Mus musculus
L154	YTFTVLAYTDA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L154	CTFNVLVYADK	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L154	CVFDVLAYTDT	1	Arabidopsis thaliana
L161	YTDKDLVVPEK	2	Homo sapiens, Mus musculus
L161	YTDADAKVPLE	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L161	YADKDSEVPTD	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L161	YTDTDVAVPFT	1	Arabidopsis thaliana
N67	IKYLNNVVEQL	2	Homo sapiens, Mus musculus
N67	KDYIRKILLQV	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N67	KTYIRKIVSQL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N67	KSFMSNLTSQI	1	Arabidopsis thaliana
P172	WEESGPQFITN	2	Homo sapiens, Mus musculus
P172	WADSNSKEIPD	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P172	WVDSDPRILRD	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P172	WIESDPKLIAN	1	Arabidopsis thaliana
Q173	EESGPQFITNS	1	Homo sapiens
Q173	ADSNSKEIPDG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q173	VDSDPRILRDA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q173	IESDPKLIANP	1	Arabidopsis thaliana
Q173	EESGPQFITNC	1	Mus musculus
R99	GEVLERWQFDI	2	Homo sapiens, Mus musculus
R99	GEVVERWSFNV	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R99	GEDLERWQFNV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R99	GEVLERWNFRI	1	Arabidopsis thaliana
S170	EKWEESGPQFI	2	Homo sapiens, Mus musculus
S170	LEWADSNSKEI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S170	TDWVDSDPRIL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S170	FTWIESDPKLI	1	Arabidopsis thaliana
T157	DLLIYTDKDLV	2	Homo sapiens, Mus musculus
T157	TVLAYTDADAK	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T157	NVLVYADKDSE	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T157	DVLAYTDTDVA	1	Arabidopsis thaliana
V162	TDKDLVVPEKW	2	Homo sapiens, Mus musculus
V162	TDADAKVPLEW	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V162	ADKDSEVPTDW	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V162	TDTDVAVPFTW	1	Arabidopsis thaliana
V163	DKDLVVPEKWE	2	Homo sapiens, Mus musculus
V163	DADAKVPLEWA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V163	DKDSEVPTDWV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V163	DTDVAVPFTWI	1	Arabidopsis thaliana
V68	KYLNNVVEQLK	2	Homo sapiens, Mus musculus
V68	DYIRKILLQVH	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V68	TYIRKIVSQLH	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V68	SFMSNLTSQIS	1	Arabidopsis thaliana
V85	SVQKLVVVISN	2	Homo sapiens, Mus musculus
V85	KCNQLVLCIVD	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V85	KIQKLILVITS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V85	KLQRVVLVIMS	1	Arabidopsis thaliana
W167	VVPEKWEESGP	2	Homo sapiens, Mus musculus
W167	KVPLEWADSNS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W167	EVPTDWVDSDP	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W167	AVPFTWIESDP	1	Arabidopsis thaliana
W75	EQLKDWLYKCS	1	Homo sapiens
W75	LQVHRWLLGGK	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W75	SQLHKWMFAKK	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W75	SQISEWLEAGK	1	Arabidopsis thaliana
W75	EQLKEWLYKCS	1	Mus musculus
Y156	FDLLIYTDKDL	2	Homo sapiens, Mus musculus
Y156	FTVLAYTDADA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y156	FNVLVYADKDS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y156	FDVLAYTDTDV	1	Arabidopsis thaliana
Y38	YQRGIYPSETF	2	Homo sapiens, Mus musculus
Y38	YQRGVYPAEDF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y38	FQRGIYPAEDF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y38	YNRAVYPEESF	1	Arabidopsis thaliana
Y64	LELIKYLNNVV	1	Homo sapiens
Y64	DELKDYIRKIL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y64	EEVKTYIRKIV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y64	ESVKSFMSNLT	1	Arabidopsis thaliana
Y64	PELIKYLNNVV	1	Mus musculus