mutLBSgeneDB |
Gene summary for XAF1 |
Gene summary |
Basic gene Info. | Gene symbol | XAF1 |
Gene name | XIAP associated factor 1 | |
Synonyms | BIRC4BP|HSXIAPAF1|XIAPAF1 | |
Cytomap | UCSC genome browser: 17p13.1 | |
Type of gene | protein-coding | |
RefGenes | NM_017523.3, NM_199139.2,NR_046396.1,NR_046397.1,NR_046398.1, | |
Description | BIRC4 binding proteinBIRC4-binding proteinXIAP-associated factor 1 | |
Modification date | 20141207 | |
dbXrefs | MIM : 606717 | |
HGNC : HGNC | ||
Ensembl : ENSG00000132530 | ||
HPRD : 06978 | ||
Vega : OTTHUMG00000177908 | ||
Protein | UniProt: Q6GPH4 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_XAF1 | |
BioGPS: 54739 | ||
Pathway | NCI Pathway Interaction Database: XAF1 | |
KEGG: XAF1 | ||
REACTOME: XAF1 | ||
Pathway Commons: XAF1 | ||
Context | iHOP: XAF1 | |
ligand binding site mutation search in PubMed: XAF1 | ||
UCL Cancer Institute: XAF1 | ||
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:0035456 | response to interferon-beta | 18035482 |
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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 |
LBS | AAchange of nsSNV | Cancer type | # samples | C286 | R287W | BRCA | 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 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. |
LBS | AAchange of nsSNV | Relative stability change | C286 | R287W | -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) |
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Phenotype information for XAF1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0009375 | Colonic Neoplasms | 3 | AlteredExpression, Biomarker |
umls:C0038356 | Stomach Neoplasms | 2 | Biomarker, PostTranslationalModification |
umls:C0009404 | Colorectal Neoplasms | 1 | Biomarker |
umls:C0021400 | Influenza, Human | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype 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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of XAF1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of XAF1 |
Multiple alignments for Q6GPH4 in multiple species |
LBS | AA sequence | # species | Species | C267 | DILRRCSQCGI | 1 | Homo sapiens | C267 | DTLQNCCQCRI | 1 | Mus musculus | C267 | DILRRCSQCDI | 1 | Bos taurus | C270 | RRCSQCGILLP | 1 | Homo sapiens | C270 | QNCCQCRILLP | 1 | Mus musculus | C270 | RRCSQCDILLP | 1 | Bos taurus | C286 | QHQEKCRWLAS | 1 | Homo sapiens | C286 | EHQEKCQRLAH | 1 | Mus musculus | C286 | HHQEKCRRLAS | 1 | Bos taurus | H282 | PILNQHQEKCR | 1 | Homo sapiens | H282 | PILNEHQEKCQ | 1 | Mus musculus | H282 | PTLNHHQEKCR | 1 | Bos taurus |
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