mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 XAF1
Gene summary
Basic gene Info.Gene symbolXAF1
Gene nameXIAP associated factor 1
SynonymsBIRC4BP|HSXIAPAF1|XIAPAF1
CytomapUCSC genome browser: 17p13.1
Type of geneprotein-coding
RefGenesNM_017523.3,
NM_199139.2,NR_046396.1,NR_046397.1,NR_046398.1,
DescriptionBIRC4 binding proteinBIRC4-binding proteinXIAP-associated factor 1
Modification date20141207
dbXrefs MIM : 606717
HGNC : HGNC
Ensembl : ENSG00000132530
HPRD : 06978
Vega : OTTHUMG00000177908
ProteinUniProt: Q6GPH4
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_XAF1
BioGPS: 54739
PathwayNCI Pathway Interaction Database: XAF1
KEGG: XAF1
REACTOME: XAF1
Pathway Commons: XAF1
ContextiHOP: XAF1
ligand binding site mutation search in PubMed: XAF1
UCL Cancer Institute: XAF1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0035456response to interferon-beta18035482


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Ligand binding site mutations for XAF1
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
LBSAAchange of nsSNVCancer type# samples
C286R287WBRCA1
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 XAF1
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.
LBSAAchange of nsSNVRelative stability change
C286R287W-0.24620363
(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 XAF1 from PDB

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Differential gene expression and gene-gene network for XAF1
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 XAF1 and the right PPI network was created from samples without mutations in the LBS of XAF1. 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 XAF1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0009375Colonic Neoplasms3AlteredExpression, Biomarker
umls:C0038356Stomach Neoplasms2Biomarker, PostTranslationalModification
umls:C0009404Colorectal Neoplasms1Biomarker
umls:C0021400Influenza, Human1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for XAF1
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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of XAF1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of XAF1
Multiple alignments for Q6GPH4 in multiple species
LBSAA sequence# speciesSpecies
C267DILRRCSQCGI1Homo sapiens
C267DTLQNCCQCRI1Mus musculus
C267DILRRCSQCDI1Bos taurus
C270RRCSQCGILLP1Homo sapiens
C270QNCCQCRILLP1Mus musculus
C270RRCSQCDILLP1Bos taurus
C286QHQEKCRWLAS1Homo sapiens
C286EHQEKCQRLAH1Mus musculus
C286HHQEKCRRLAS1Bos taurus
H282PILNQHQEKCR1Homo sapiens
H282PILNEHQEKCQ1Mus musculus
H282PTLNHHQEKCR1Bos taurus


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