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mutLBSgeneDB |
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| Gene summary for BIRC7 |
 Gene summary |
| Basic gene Info. | Gene symbol | BIRC7 |
| Gene name | baculoviral IAP repeat containing 7 | |
| Synonyms | KIAP|LIVIN|ML-IAP|MLIAP|RNF50 | |
| Cytomap | UCSC genome browser: 20q13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_022161.3, NM_139317.2, | |
| Description | RING finger protein 50baculoviral IAP repeat-containing protein 7kidney inhibitor of apoptosis proteinlivin inhibitor of apoptosismelanoma inhibitor of apoptosis protein | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 605737 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000101197 | ||
| HPRD : 05761 | ||
| Vega : OTTHUMG00000032957 | ||
| Protein | UniProt: Q96CA5 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BIRC7 | |
| BioGPS: 79444 | ||
| Pathway | NCI Pathway Interaction Database: BIRC7 | |
| KEGG: BIRC7 | ||
| REACTOME: BIRC7 | ||
| Pathway Commons: BIRC7 | ||
| Context | iHOP: BIRC7 | |
| ligand binding site mutation search in PubMed: BIRC7 | ||
| UCL Cancer Institute: BIRC7 | ||
| 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 | 16729033 | GO:0042127 | regulation of cell proliferation | 21617971 | GO:0070247 | regulation of natural killer cell apoptotic process | 18034418 |
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| Ligand binding site mutations for BIRC7 |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D138 | G137R | BRCA | 1 | D138 | D139N | COAD | 1 | C267 | P266S | LUAD | 1 | C252 | K253N | LUAD | 1 | T116 | G117C | LUSC | 1 | D138,W134 | R136H | LUSC | 1 | C275 | E274K | LUSC | 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 BIRC7 |
| 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 |
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| 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 | C275 | E274K | -1.2486155 | D138 | R136H | -1.1164647 | W134 | R136H | -1.1164647 | C267 | P266S | -1.0480587 | C252 | K253N | -1.0071483 | T116 | G117C | -0.841667 | D138 | D139N | -0.68669821 | D138 | G137R | -0.3904282 |
| (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 BIRC7 from PDB |
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| Differential gene expression and gene-gene network for BIRC7 |
| 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 BIRC7 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0007134 | Carcinoma, Renal Cell | 4 | AlteredExpression, Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for BIRC7 |
| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of BIRC7 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 4auq | B | C252 C275 | ZN | ZINC(2+) | 4auq | E | C252 C275 | ZN | ZINC(2+) | 4auq | B | C267 | ZN | ZINC(2+) | 4auq | E | C267 | III | Peptide ligand (ALA,VAL,PRO,TRP) | 2i3h | A | T116 W134 D138 | III | Peptide ligand (ALA,VAL,PRO,TRP) | 2i3h | B | T116 W134 D138 | III | Peptide ligand (ALA,GLU,ALA,VAL) | 1oxn | E | W134 D138 | III | Peptide ligand (ALA,VAL,PRO,ILE) | 1oxq | E | W134 D138 | III | Peptide ligand (ALA,GLU,VAL,VAL) | 1oy7 | E | W134 D138 | III | Peptide ligand (ALA,VAL,PRO,ILE) | 1tw6 | A | W134 D138 | III | Peptide ligand (ALA,VAL,PRO,ILE,ALA,GLN) | 1tw6 | B | W134 D138 | 618 | (3R,6R,9AR)-2,2-DIMETHYL-6-[(N-METHYL-L-ALANYL)AMINO]-N-(3-METHYL-1-PHENYL-1H-PYRAZOL-5-YL)-5-OXO-2,3,5,6,9,9A-HEXAHYDRO[1,3]THIAZOLO[3,2-A]AZEPINE-3-CARBOXAMIDE | 2i3i | A | W134 D138 | 618 | (3R,6R,9AR)-2,2-DIMETHYL-6-[(N-METHYL-L-ALANYL)AMINO]-N-(3-METHYL-1-PHENYL-1H-PYRAZOL-5-YL)-5-OXO-2,3,5,6,9,9A-HEXAHYDRO[1,3]THIAZOLO[3,2-A]AZEPINE-3-CARBOXAMIDE | 2i3i | B | W134 D138 | 389 | L-ALANYL-L-VALYL-N-(2,2-DIPHENYLETHYL)-L-PROLINAMIDE | 3f7g | E | W134 D138 | 419 | N-[(3AR,6S,6AS)-1-(N-METHYL-L-ALANYL-3-METHYL-L-VALYL)OCTAHYDROCYCLOPENTA[B]PYRROL-6-YL]-2,2-DIPHENYLACETAMIDE | 3f7h | A | W134 D138 | 419 | N-[(3AR,6S,6AS)-1-(N-METHYL-L-ALANYL-3-METHYL-L-VALYL)OCTAHYDROCYCLOPENTA[B]PYRROL-6-YL]-2,2-DIPHENYLACETAMIDE | 3f7h | B | W134 D138 | G13 | N-[(3AR,6S,6AS)-1-(N-METHYL-L-ALANYL-3-METHYL-L-VALYL)OCTAHYDROCYCLOPENTA[B]PYRROL-6-YL]NAPHTHALENE-1-CARBOXAMIDE | 3f7i | A | W134 D138 | G13 | N-[(3AR,6S,6AS)-1-(N-METHYL-L-ALANYL-3-METHYL-L-VALYL)OCTAHYDROCYCLOPENTA[B]PYRROL-6-YL]NAPHTHALENE-1-CARBOXAMIDE | 3f7i | B | W134 D138 | 516 | N-{(1S)-1-CYCLOHEXYL-2-[(2S)-2-(4-NAPHTHALEN-1-YL-1,3-THIAZOL-2-YL)PYRROLIDIN-1-YL]-2-OXOETHYL}-N~2~-METHYL-L-ALANINAMIDE | 3gt9 | A | W134 D138 | 516 | N-{(1S)-1-CYCLOHEXYL-2-[(2S)-2-(4-NAPHTHALEN-1-YL-1,3-THIAZOL-2-YL)PYRROLIDIN-1-YL]-2-OXOETHYL}-N~2~-METHYL-L-ALANINAMIDE | 3gt9 | B | W134 D138 | 851 | N-{(1S)-1-CYCLOHEXYL-2-OXO-2-[(2S)-2-(4-PHENYL-1,3-BENZOTHIAZOL-2-YL)PYRROLIDIN-1-YL]ETHYL}-N~2~-METHYL-L-ALANINAMIDE | 3gta | A | W134 D138 | 851 | N-{(1S)-1-CYCLOHEXYL-2-OXO-2-[(2S)-2-(4-PHENYL-1,3-BENZOTHIAZOL-2-YL)PYRROLIDIN-1-YL]ETHYL}-N~2~-METHYL-L-ALANINAMIDE | 3gta | B | W134 D138 | III | Peptide ligand (ALA,CHG,PRO,0DQ) | 3uw5 | A | W134 D138 |
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| Conservation information for LBS of BIRC7 |
| Multiple alignments for Q96CA5 in multiple species |
| LBS | AA sequence | # species | Species |
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