mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

	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 RUFY1

Gene summary

Basic gene Info.	Gene symbol	RUFY1
	Gene name	RUN and FYVE domain containing 1
	Synonyms	RABIP4\|ZFYVE12
	Cytomap	UCSC genome browser: 5q35.3
	Type of gene	protein-coding
	RefGenes	NM_001040451.2, NM_001040452.2,NM_025158.4,
	Description	FYVE-finger protein EIP1RUN and FYVE domain-containing protein 1la-binding protein 1rab4-interacting proteinzinc finger FYVE domain-containing protein 12
	Modification date	20141207
dbXrefs	MIM : 610327
	HGNC : HGNC
	Ensembl : ENSG00000176783
	HPRD : 15282
	Vega : OTTHUMG00000130913
Protein	UniProt: Q96T51 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_RUFY1
	BioGPS: 80230
Pathway	NCI Pathway Interaction Database: RUFY1
	KEGG: RUFY1
	REACTOME: RUFY1
	Pathway Commons: RUFY1
Context	iHOP: RUFY1
	ligand binding site mutation search in PubMed: RUFY1
	UCL Cancer Institute: RUFY1
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

Top

Ligand binding site mutations for RUFY1

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
C675	S677I	COAD	1
C675	S677T	OV	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.

Top

Protein structure related information for RUFY1

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
C675	S677I	0.082371159
C675	S677T	-0.26066141

(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 RUFY1 from PDB

Top

Differential gene expression and gene-gene network for RUFY1

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 RUFY1 and the right PPI network was created from samples without mutations in the LBS of RUFY1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.

Top

Phenotype information for RUFY1

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

Top

Pharmacological information for RUFY1

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.