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 CECR1

Gene summary

Basic gene Info.	Gene symbol	CECR1
	Gene name	cat eye syndrome chromosome region, candidate 1
	Synonyms	ADA2\|ADGF\|IDGFL\|PAN\|SNEDS
	Cytomap	UCSC genome browser: 22q11.2
	Type of gene	protein-coding
	RefGenes	NM_001282225.1, NM_001282226.1,NM_001282227.1,NM_001282228.1,NM_001282229.1, NM_177405.2,NM_017424.2,
	Description	adenosine deaminase 2adenosine deaminase CECR1cat eye syndrome critical region protein 1
	Modification date	20141207
dbXrefs	MIM : 607575
	HGNC : HGNC
	Ensembl : ENSG00000093072
	HPRD : 10462
	Vega : OTTHUMG00000030726
Protein	UniProt: Q9NZK5 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_CECR1
	BioGPS: 51816
Pathway	NCI Pathway Interaction Database: CECR1
	KEGG: CECR1
	REACTOME: CECR1
	Pathway Commons: CECR1
Context	iHOP: CECR1
	ligand binding site mutation search in PubMed: CECR1
	UCL Cancer Institute: CECR1
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:0006154	adenosine catabolic process	20147294

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Ligand binding site mutations for CECR1

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
F207	F207C	COAD	1
H356	F355L	LUAD	1
E359	G358R	LUSC	1
F211	I210N	SKCM	1
D441	D441N	SKCM	1
E208	E208K	SKCM	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 CECR1

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
F211	I210N	-1.4831459
E208	E208K	-1.0550801
F207	F207C	-0.77859408
H356	F355L	-0.76485115
D441	D441N	-0.57191993
E359	G358R	-0.55702909

(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 CECR1 from PDB

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Differential gene expression and gene-gene network for CECR1

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 CECR1 and the right PPI network was created from samples without mutations in the LBS of CECR1. 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 CECR1

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0031036	Polyarteritis Nodosa	3	Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for CECR1

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.