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 TRIM33

Gene summary

Basic gene Info.	Gene symbol	TRIM33
	Gene name	tripartite motif containing 33
	Synonyms	ECTO\|PTC7\|RFG7\|TF1G\|TIF1G\|TIF1GAMMA\|TIFGAMMA
	Cytomap	UCSC genome browser: 1p13.1
	Type of gene	protein-coding
	RefGenes	NM_015906.3, NM_033020.2,
	Description	E3 ubiquitin-protein ligase TRIM33RET-fused gene 7 proteinTIF1-gammaectodermin homologprotein Rfg7transcriptional intermediary factor 1 gammatripartite motif-containing 33
	Modification date	20141207
dbXrefs	MIM : 605769
	HGNC : HGNC
	Ensembl : ENSG00000197323
	HPRD : 10423
	Vega : OTTHUMG00000011891
Protein	UniProt: Q9UPN9 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_TRIM33
	BioGPS: 51592
Pathway	NCI Pathway Interaction Database: TRIM33
	KEGG: TRIM33
	REACTOME: TRIM33
	Pathway Commons: TRIM33
Context	iHOP: TRIM33
	ligand binding site mutation search in PubMed: TRIM33
	UCL Cancer Institute: TRIM33
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
GO:0016567	protein ubiquitination	19135894
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	19135894
GO:0030514	negative regulation of BMP signaling pathway	19135894

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Ligand binding site mutations for TRIM33

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
E977	C975R	BRCA	1
G896	G896R	COAD	1
Y993	Y994C	COAD	1
P885	P885Q	COAD	1
P885	P885S	COAD	1
D1022	P1021Q	KIRC	1
E903,C905	K904Q	UCEC	1
C1035	K1033N	UCEC	1
I990	S989L	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 TRIM33

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
G896	G896R	0.091929905
P885	P885S	-1.5866046
P885	P885Q	-1.5265805
Y993	Y994C	-1.4046914
C1035	K1033N	-1.327077
D1022	P1021Q	-1.0435374
C905	K904Q	-0.92760332
E903	K904Q	-0.92760332
E977	C975R	-0.8181331
I990	S989L	-0.52504224

(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 TRIM33 from PDB

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Differential gene expression and gene-gene network for TRIM33

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 TRIM33 and the right PPI network was created from samples without mutations in the LBS of TRIM33. 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 TRIM33

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 TRIM33

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.

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 TRIM33 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
ZN		ZINC(2+)	3u5m	A	C905
ZN		ZINC(2+)	3u5m	B	C905
ZN		ZINC(2+)	3u5m	C	C905
ZN		ZINC(2+)	3u5m	D	C905
ZN		ZINC(2+)	3u5m	E	C905
ZN		ZINC(2+)	3u5m	F	C905
ZN		ZINC(2+)	3u5m	G	C905
ZN		ZINC(2+)	3u5m	H	C905
ZN		ZINC(2+)	3u5m	I	C905
ZN		ZINC(2+)	3u5m	J	C905
ZN		ZINC(2+)	3u5m	K	C905
ZN		ZINC(2+)	3u5m	L	C905
ZN		ZINC(2+)	3u5n	A	C905
ZN		ZINC(2+)	3u5n	B	C905
ZN		ZINC(2+)	3u5o	A	C905
ZN		ZINC(2+)	3u5o	B	C905
ZN		ZINC(2+)	3u5o	C	C905
ZN		ZINC(2+)	3u5o	D	C905
ZN		ZINC(2+)	3u5o	E	C905
ZN		ZINC(2+)	3u5o	F	C905
ZN		ZINC(2+)	3u5o	G	C905
ZN		ZINC(2+)	3u5o	H	C905
ZN		ZINC(2+)	3u5p	A	C905
ZN		ZINC(2+)	3u5p	B	C905
ZN		ZINC(2+)	3u5p	C	C905
ZN		ZINC(2+)	3u5p	D	C905
ZN		ZINC(2+)	3u5p	E	C905
ZN		ZINC(2+)	3u5p	F	C905
ZN		ZINC(2+)	3u5p	G	C905
ZN		ZINC(2+)	3u5p	H	C905
CA		CALCIUM(2+)	3u5m	A	D1022
CA		CALCIUM(2+)	3u5m	I	D1022
III		Peptide ligand (ALA,PRO,ARG,LYS)	3u5p	F	E977 C1035
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY,GLY,LYS,ALA,PRO,ARG,LYS,GLN,LEU)	3u5n	B	G896 E903
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY,GLY,LYS,ALA,PRO,ARG,LYS,GLN,LEU)	3u5o	A	G896 E903
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY,GLY,LYS,ALA,PRO,ARG,LYS,GLN,LEU)	3u5o	D	G896 E903
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY)	3u5p	B	G896 E903
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY)	3u5p	H	G896 E903
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY,GLY,LYS,ALA,PRO,ARG,LYS,GLN,LEU)	3u5o	C	G896 E903 E977
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY,GLY,LYS,ALA,PRO,ARG,LYS,GLN)	3u5p	E	G896 E903 E977 C1035
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY,GLY,LYS,ALA,PRO,ARG,LYS,GLN,LEU)	3u5o	H	G896 E903 E977 I990
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY,GLY,LYS,ALA,PRO,ARG,LYS,GLN,LEU)	3u5o	G	G896 E903 E977 I990 C1035
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY,GLY,LYS,ALA,PRO,ARG,LYS)	3u5p	D	G896 I990 C1035
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY,GLY,LYS,ALA,PRO,ARG,LYS)	3u5p	G	G896 Y993
III		Peptide ligand (ALA,PRO,ARG,LYS)	3u5p	B	I990
III		Peptide ligand (ALA,PRO,ARG,LYS)	3u5p	C	I990
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY)	3u5p	F	P885 G896
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER)	3u5n	A	P885 G896 E903
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY)	3u5p	C	P885 G896 E903
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY,GLY,LYS,ALA,PRO,ARG,LYS,GLN,LEU)	3u5o	B	P885 G896 E903 E977 I990
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY,GLY,LYS,ALA,PRO,ARG,LYS,GLN,LEU)	3u5o	E	P885 G896 E903 E977 I990
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY,GLY,LYS,ALA,PRO,ARG,LYS,GLN,LEU)	3u5o	F	P885 G896 E903 E977 I990
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER,THR,GLY,GLY,LYS,ALA,PRO,ARG,LYS)	3u5p	A	P885 G896 E903 E977 I990

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Conservation information for LBS of TRIM33

Multiple alignments for Q9UPN9 in multiple species

LBS

AA sequence

# species

Species