mutLBSgeneDB |
Gene summary for BIRC3 |
Gene summary |
Basic gene Info. | Gene symbol | BIRC3 |
Gene name | baculoviral IAP repeat containing 3 | |
Synonyms | AIP1|API2|CIAP2|HAIP1|HIAP1|MALT2|MIHC|RNF49|c-IAP2 | |
Cytomap | UCSC genome browser: 11q22 | |
Type of gene | protein-coding | |
RefGenes | NM_001165.4, NM_182962.2, | |
Description | IAP homolog CIAP-1RING finger protein 49TNFR2-TRAF signaling complex proteinTNFR2-TRAF-signaling complex protein 1apoptosis inhibitor 2baculoviral IAP repeat-containing 3baculoviral IAP repeat-containing protein 3inhibitor of apoptosis protein 1m | |
Modification date | 20141207 | |
dbXrefs | MIM : 601721 | |
HGNC : HGNC | ||
Ensembl : ENSG00000023445 | ||
HPRD : 03426 | ||
Vega : OTTHUMG00000167324 | ||
Protein | UniProt: Q13489 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_BIRC3 | |
BioGPS: 330 | ||
Pathway | NCI Pathway Interaction Database: BIRC3 | |
KEGG: BIRC3 | ||
REACTOME: BIRC3 | ||
Pathway Commons: BIRC3 | ||
Context | iHOP: BIRC3 | |
ligand binding site mutation search in PubMed: BIRC3 | ||
UCL Cancer Institute: BIRC3 | ||
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 | 16395405 | GO:0031398 | positive regulation of protein ubiquitination | 21931591 |
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Ligand binding site mutations for BIRC3 |
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 | C295 | G297R | COAD | 1 | C295 | G297C | COAD | 1 | C572 | P571S | SKCM | 1 | C591 | R592K | 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 BIRC3 |
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 | C295 | G297R | 0.083226207 | C591 | R592K | -1.3218866 | C572 | P571S | -1.308876 | C295 | G297C | -0.053642002 |
(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 BIRC3 from PDB |
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Differential gene expression and gene-gene network for BIRC3 |
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 BIRC3 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0019693 | HIV Infections | 2 | Biomarker |
umls:C0005695 | Urinary Bladder Neoplasms | 1 | AlteredExpression, Biomarker |
umls:C0015695 | Fatty Liver | 1 | Biomarker |
umls:C0023418 | Leukemia | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for BIRC3 |
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 BIRC3 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2uvl | A | C295 | ZN | ZINC(2+) | 2uvl | B | C295 | ZN | ZINC(2+) | 3eb5 | A | C572 C591 | ZN | ZINC(2+) | 3eb6 | A | C572 C591 |
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Conservation information for LBS of BIRC3 |
Multiple alignments for Q13489 in multiple species |
LBS | AA sequence | # species | Species | C292 | SDDVKCFCCDG | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | C295 | VKCFCCDGGLR | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | C319 | KWFPRCEYLIR | 2 | Homo sapiens, Canis lupus familiaris | C319 | KWFPRCEYLLR | 1 | Mus musculus | C557 | QEERTCKVCMD | 2 | Homo sapiens, Canis lupus familiaris | C557 | QEERMCKVCMD | 1 | Mus musculus | C560 | RTCKVCMDKEV | 2 | Homo sapiens, Canis lupus familiaris | C560 | RMCKVCMDREV | 1 | Mus musculus | C572 | IVFIPCGHLVV | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | C578 | GHLVVCKDCAP | 2 | Homo sapiens, Mus musculus | C578 | GHLVVCRDCAP | 1 | Canis lupus familiaris | C581 | VVCKDCAPSLR | 2 | Homo sapiens, Mus musculus | C581 | VVCRDCAPSLR | 1 | Canis lupus familiaris | C588 | PSLRKCPICRG | 2 | Mus musculus, Canis lupus familiaris | C588 | PSLRKCPICRS | 1 | Homo sapiens | C591 | RKCPICRSTIK | 1 | Homo sapiens | C591 | RKCPICRGTIK | 1 | Mus musculus | C591 | RKCPICRGTVR | 1 | Canis lupus familiaris | C66 | NDKVKCFCCGL | 2 | Homo sapiens, Mus musculus | C66 | KDRVRCFCCGL | 1 | Canis lupus familiaris | C69 | VKCFCCGLMLD | 2 | Homo sapiens, Mus musculus | C69 | VRCFCCGLMLD | 1 | Canis lupus familiaris | C93 | KLYPSCRFVQS | 1 | Homo sapiens | C93 | KLYPSCNFVQT | 1 | Mus musculus | C93 | NLYPSCSFIQN | 1 | Canis lupus familiaris | H312 | DPWVEHAKWFP | 2 | Mus musculus, Canis lupus familiaris | H312 | DPWVQHAKWFP | 1 | Homo sapiens | H574 | FIPCGHLVVCK | 2 | Homo sapiens, Mus musculus | H574 | FIPCGHLVVCR | 1 | Canis lupus familiaris | H86 | SPTEKHKKLYP | 1 | Homo sapiens | H86 | SPMEKHRKLYP | 1 | Mus musculus | H86 | SPTGKHRNLYP | 1 | Canis lupus familiaris |
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