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 KIAA1045

Gene summary

Basic gene Info.	Gene symbol	KIAA1045
	Gene name	KIAA1045
	Synonyms	-
	Cytomap	UCSC genome browser: 9p13.3
	Type of gene	protein-coding
	RefGenes	NM_015297.1,
	Description	protein KIAA1045
	Modification date	20141207
dbXrefs	HGNC : HGNC
	Ensembl : ENSG00000122733
	Vega : OTTHUMG00000019844
Protein	UniProt: Q9UPV7 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_KIAA1045
	BioGPS: 23349
Pathway	NCI Pathway Interaction Database: KIAA1045
	KEGG: KIAA1045
	REACTOME: KIAA1045
	Pathway Commons: KIAA1045
Context	iHOP: KIAA1045
	ligand binding site mutation search in PubMed: KIAA1045
	UCL Cancer Institute: KIAA1045
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

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Ligand binding site mutations for KIAA1045

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
C185	C185F	COAD	1
C147	P146S	SKCM	1
C150	R152K	SKCM	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 KIAA1045

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
C147	P146S	-1.2585112
C150	R152K	-0.90338936
C185	C185F	-0.45307448

(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 KIAA1045 from PDB

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Differential gene expression and gene-gene network for KIAA1045

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 KIAA1045 and the right PPI network was created from samples without mutations in the LBS of KIAA1045. 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 KIAA1045

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