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 ING1

Gene summary

Basic gene Info.	Gene symbol	ING1
	Gene name	inhibitor of growth family, member 1
	Synonyms	p24ING1c\|p33\|p33ING1\|p33ING1b\|p47\|p47ING1a
	Cytomap	UCSC genome browser: 13q34
	Type of gene	protein-coding
	RefGenes	NM_001267728.1, NM_005537.5,NM_198217.2,NM_198218.2,NM_198219.2,
	Description	growth inhibitor ING1growth inhibitory protein ING1inhibitor of growth protein 1tumor suppressor ING1
	Modification date	20141207
dbXrefs	MIM : 601566
	HGNC : HGNC
	Ensembl : ENSG00000153487
	HPRD : 03337
	Vega : OTTHUMG00000017346
Protein	UniProt: Q9UK53 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ING1
	BioGPS: 3621
Pathway	NCI Pathway Interaction Database: ING1
	KEGG: ING1
	REACTOME: ING1
	Pathway Commons: ING1
Context	iHOP: ING1
	ligand binding site mutation search in PubMed: ING1
	UCL Cancer Institute: ING1
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

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Ligand binding site mutations for ING1

Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)

: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
W378	W378R	COAD	2
D370	D370Y	COAD	1
E377	E377K	COAD	1
W378	W378C	OV	1
C358	C358Y	STAD	1
D370	D370Y	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 ING1

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
D370	D370Y	0.10766016
E377	E377K	-1.4667243
W378	W378C	-1.1993326
W378	W378R	-1.0898827
C358	C358Y	-0.7133892

(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 ING1 from PDB

PDB ID	PDB title	PDB structure
2QIC	Crystal Structure of the ING1 PHD Finger in complex with a Histone H3K4ME3 peptide

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Differential gene expression and gene-gene network for ING1

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 ING1 and the right PPI network was created from samples without mutations in the LBS of ING1. 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 ING1

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C1168401	Carcinoma, squamous cell of head and neck	2	Biomarker, GeneticVariation
umls:C0242656	Disease Progression	1	Biomarker
umls:C0038356	Stomach Neoplasms	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for ING1

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.