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 MNAT1

Gene summary

Basic gene Info.	Gene symbol	MNAT1
	Gene name	MNAT CDK-activating kinase assembly factor 1
	Synonyms	CAP35\|MAT1\|RNF66\|TFB3
	Cytomap	UCSC genome browser: 14q23
	Type of gene	protein-coding
	RefGenes	NM_001177963.1, NM_002431.3,
	Description	CDK-activating kinase assembly factor MAT1CDK7/cyclin-H assembly factorRING finger protein 66RING finger protein MAT1cyclin G1 interacting proteincyclin-G1-interacting proteinmenage a trois 1 (CAK assembly factor)menage a trois homolog 1, cyclin H
	Modification date	20141207
dbXrefs	MIM : 602659
	HGNC : HGNC
	Ensembl : ENSG00000020426
	HPRD : 04042
	Vega : OTTHUMG00000152340
Protein	UniProt: P51948 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_MNAT1
	BioGPS: 4331
Pathway	NCI Pathway Interaction Database: MNAT1
	KEGG: MNAT1
	REACTOME: MNAT1
	Pathway Commons: MNAT1
Context	iHOP: MNAT1
	ligand binding site mutation search in PubMed: MNAT1
	UCL Cancer Institute: MNAT1
Assigned class in mutLBSgeneDB	B: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

GO ID	GO Term	PubMed ID
GO:0006200	ATP catabolic process	9852112
GO:0006357	regulation of transcription from RNA polymerase II promoter	10801852
GO:0006366	transcription from RNA polymerase II promoter	9852112
GO:0006468	protein phosphorylation	9852112
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	8692841

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Ligand binding site mutations for MNAT1

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
C31	L30F	HNSC	1
C9	R8W	HNSC	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 MNAT1

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
C31	L30F	-1.0362268
C9	R8W	-0.75155062

(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 MNAT1 from PDB

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Differential gene expression and gene-gene network for MNAT1

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 MNAT1 and the right PPI network was created from samples without mutations in the LBS of MNAT1. 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 MNAT1

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 MNAT1

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 MNAT1 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
ZN		ZINC(2+)	1g25	A	C9 C31

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Conservation information for LBS of MNAT1

Multiple alignments for P51948 in multiple species

LBS	AA sequence	# species	Species
C26	MVNV-CGHTLC	2	Homo sapiens, Mus musculus
C26	LINPECYHKMC	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C26	LVNPECYHRIC	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C26	LINPECYHKIC	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
C26	LVNPECYHKIC	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
C31	CGHTLCESCVD	2	Homo sapiens, Mus musculus
C31	CYHKICESCVD	2	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
C31	CYHKMCESCVD	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C31	CYHRICESCVD	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C34	TLCESCVDLLF	2	Homo sapiens, Mus musculus
C34	KICESCVDRIF	2	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
C34	KMCESCVDRIF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C34	RICESCVDRIF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C46	RGAGNCP--EC	2	Homo sapiens, Mus musculus
C46	LGPAQCPYEGC	2	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
C46	TGPAQCPTPGC	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C46	LGPAQCPYKGC	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C49	CP--ECGTPLR	2	Homo sapiens, Mus musculus
C49	CPYEGCDKILR	2	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
C49	CPTPGCNKILR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C49	CPYKGCDKILR	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C6	DM---CPICKT	3	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
C6	-----CPRCKT	2	Homo sapiens, Mus musculus
C6	KVDEKCPLCQA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C9	--CPICKTDRY	3	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
C9	--CPRCKTTKY	2	Homo sapiens, Mus musculus
C9	EKCPLCQADRY	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H28	NV-CGHTLCES	2	Homo sapiens, Mus musculus
H28	NPECYHKICES	2	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
H28	NPECYHKMCES	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H28	NPECYHRICES	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)