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 NUP153

Gene summary

Basic gene Info.	Gene symbol	NUP153
	Gene name	nucleoporin 153kDa
	Synonyms	HNUP153\|N153
	Cytomap	UCSC genome browser: 6p22.3
	Type of gene	protein-coding
	RefGenes	NM_001278209.1, NM_001278210.1,NM_005124.3,
	Description	153 kDa nucleoporinnuclear pore complex protein Nup153nuclear pore complex protein hnup153nucleoporin 153kDnucleoporin Nup153
	Modification date	20141207
dbXrefs	MIM : 603948
	HGNC : HGNC
	Ensembl : ENSG00000124789
	HPRD : 04899
	Vega : OTTHUMG00000014312
Protein	UniProt: P49790 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_NUP153
	BioGPS: 9972
Pathway	NCI Pathway Interaction Database: NUP153
	KEGG: NUP153
	REACTOME: NUP153
	Pathway Commons: NUP153
Context	iHOP: NUP153
	ligand binding site mutation search in PubMed: NUP153
	UCL Cancer Institute: NUP153
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:0046832	negative regulation of RNA export from nucleus	22253824

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Ligand binding site mutations for NUP153

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
C857	D856E	LUAD	1
C871	L872S	STAD	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 NUP153

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
C871	L872S	-1.6953188
C857	D856E	-0.26612445

(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 NUP153 from PDB

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Differential gene expression and gene-gene network for NUP153

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 NUP153 and the right PPI network was created from samples without mutations in the LBS of NUP153. 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 NUP153

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 NUP153

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.