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 RNF7

Gene summary

Basic gene Info.	Gene symbol	RNF7
	Gene name	ring finger protein 7
	Synonyms	CKBBP1\|ROC2\|SAG
	Cytomap	UCSC genome browser: 3q22-q24
	Type of gene	protein-coding
	RefGenes	NM_001201370.1, NM_014245.4,NM_183237.2,NR_037702.1,NR_037703.1, NM_183063.1,
	Description	CKII beta-binding protein 1RING-box protein 2rbx2regulator of cullins 2sensitive to apoptosis gene proteinsensitive to apoptosis, zinc RING finger protein SAG, regulator of cullins 2zinc RING finger protein SAG
	Modification date	20141207
dbXrefs	MIM : 603863
	HGNC : HGNC
	HPRD : 04840
Protein	UniProt: Q9UBF6 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_RNF7
	BioGPS: 9616
Pathway	NCI Pathway Interaction Database: RNF7
	KEGG: RNF7
	REACTOME: RNF7
	Pathway Commons: RNF7
Context	iHOP: RNF7
	ligand binding site mutation search in PubMed: RNF7
	UCL Cancer Institute: RNF7
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:0045116	protein neddylation	19250909

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Ligand binding site mutations for RNF7

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
C61	A60V	BLCA	1
C64	A66T	COAD	1
C64	A66V	COAD	1
C61	L62V	KIRC	1
C61	L62R	THCA	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 RNF7

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
C61	L62R	-0.84252815
C61	L62V	-0.80342347
C64	A66T	-0.38885597
C61	A60V	-0.36491676
C64	A66V	-0.21765159

(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 RNF7 from PDB

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Differential gene expression and gene-gene network for RNF7

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 RNF7 and the right PPI network was created from samples without mutations in the LBS of RNF7. 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 RNF7

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 RNF7

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.