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 RNF31

Gene summary

Basic gene Info.	Gene symbol	RNF31
	Gene name	ring finger protein 31
	Synonyms	HOIP\|ZIBRA
	Cytomap	UCSC genome browser: 14q11.2
	Type of gene	protein-coding
	RefGenes	NM_017999.4,
	Description	E3 ubiquitin-protein ligase RNF31HOIL-1-interacting proteinzinc in-between-RING-finger ubiquitin-associated domain protein
	Modification date	20141207
dbXrefs	MIM : 612487
	HGNC : HGNC
	Ensembl : ENSG00000092098
	HPRD : 11516
	Vega : OTTHUMG00000028798
Protein	UniProt: Q96EP0 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_RNF31
	BioGPS: 55072
Pathway	NCI Pathway Interaction Database: RNF31
	KEGG: RNF31
	REACTOME: RNF31
	Pathway Commons: RNF31
Context	iHOP: RNF31
	ligand binding site mutation search in PubMed: RNF31
	UCL Cancer Institute: RNF31
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:0000209	protein polyubiquitination	12629548
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	19136968
GO:0050852	T cell receptor signaling pathway	20005846
GO:0051092	positive regulation of NF-kappaB transcription factor activity	19136968
GO:0097039	protein linear polyubiquitination	21455173

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Ligand binding site mutations for RNF31

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
H836	R837Q	COAD	1
H923	S921Y	GBM	1
C890	T891S	LUSC	1
C817	P818L	SKCM	1
C911	K910I	STAD	1
G97	G97S	UCEC	1
C986	A985V	UCEC	1
H923,H925	G924S	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 RNF31

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
C890	T891S	-1.1620088
C986	A985V	-1.0786427
H923	G924S	-0.80579729
H925	G924S	-0.80579729
G97	G97S	-0.69201264
H923	S921Y	-0.64035281
H836	R837Q	-0.39219003
C911	K910I	-0.24856136
C817	P818L	-0.21526133

(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 RNF31 from PDB

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Differential gene expression and gene-gene network for RNF31

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 RNF31 and the right PPI network was created from samples without mutations in the LBS of RNF31. 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 RNF31

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 RNF31

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 RNF31 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
ZN		ZINC(2+)	4ljo	A	C890
ZN		ZINC(2+)	4ljp	A	C890
ZN		ZINC(2+)	4ljq	B	C890
ZN		ZINC(2+)	4ljq	A	C890
ZN		ZINC(2+)	4ljq	C	C890
ZN		ZINC(2+)	4ljq	D	C890
ZN		ZINC(2+)	4ljo	A	C911 H923 H925
ZN		ZINC(2+)	4ljp	A	C911 H923 H925
ZN		ZINC(2+)	4ljq	B	C911 H923 H925
ZN		ZINC(2+)	4ljq	A	C911 H923 H925
ZN		ZINC(2+)	4ljq	C	C911 H923 H925
ZN		ZINC(2+)	4ljq	D	C911 H923 H925
ZN		ZINC(2+)	4ljo	A	C986
ZN		ZINC(2+)	4ljp	A	C986
ZN		ZINC(2+)	4ljq	B	C986
ZN		ZINC(2+)	4ljq	A	C986
ZN		ZINC(2+)	4ljq	C	C986
ZN		ZINC(2+)	4ljq	D	C986
III		Peptide ligand (ASP,LEU,TYR,GLY)	4p0a	A	G97
III		Peptide ligand (ASP,MET,TYR,ARG)	4p0b	A	G97
III		Peptide ligand (ASP,MET,TYR,ARG)	4p0b	C	G97
III		Peptide ligand (GLU,ASP,MET,TYR,ARG,ALA,ALA,ASP,GLU,ILE,GLU,LYS,GLU)	4oyk	A	G97
III		Peptide ligand (GLU,ASP,MET,TYR,ARG,ALA,ALA,ASP,GLU,ILE,GLU,LYS,GLU,LYS,GLU)	4oyk	B	G97

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Conservation information for LBS of RNF31

Multiple alignments for Q96EP0 in multiple species

LBS

AA sequence

# species

Species