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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for BIRC3 |
 Gene summary |
| Gene information | Gene symbol | BIRC3 | Gene ID | 330 |
| Gene name | baculoviral IAP repeat containing 3 | |
| Synonyms | AIP1|API2|CIAP2|HAIP1|HIAP1|MALT2|MIHC|RNF49|c-IAP2 | |
| Cytomap | 11q22.2 | |
| Type of gene | protein-coding | |
| Description | baculoviral IAP repeat-containing protein 3IAP homolog CIAP-1RING finger protein 49RING-type E3 ubiquitin transferase BIRC3TNFR2-TRAF signaling complex proteinTNFR2-TRAF-signaling complex protein 1apoptosis inhibitor 2cellular inhibitor of apoptos | |
| Modification date | 20180523 | |
| UniProtAcc | Q13489 | |
| Context | PubMed: BIRC3 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| BIRC3 | GO:0031398 | positive regulation of protein ubiquitination | 21931591 |
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Exon skipping events across known transcript of Ensembl for BIRC3 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for BIRC3 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for BIRC3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_64629 | 11 | 102188293:102188302:102192567:102196093:102196196:102196296 | 102192567:102196093 | ENSG00000023445.9 | ENST00000263464.3 |
| exon_skip_64630 | 11 | 102190607:102190737:102191016:102191131:102192567:102192684 | 102191016:102191131 | ENSG00000023445.9 | ENST00000528940.1 |
| exon_skip_64631 | 11 | 102196196:102196296:102197459:102197582:102198782:102198861 | 102197459:102197582 | ENSG00000023445.9 | ENST00000527309.1 |
| exon_skip_64632 | 11 | 102201729:102201972:102206696:102206951:102207490:102207532 | 102206696:102206951 | ENSG00000023445.9 | ENST00000263464.3,ENST00000532808.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BIRC3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_64629 | 11 | 102188293:102188302:102192567:102196093:102196196:102196296 | 102192567:102196093 | ENSG00000023445.9 | ENST00000263464.3 |
| exon_skip_64630 | 11 | 102190607:102190737:102191016:102191131:102192567:102192684 | 102191016:102191131 | ENSG00000023445.9 | ENST00000528940.1 |
| exon_skip_64631 | 11 | 102196196:102196296:102197459:102197582:102198782:102198861 | 102197459:102197582 | ENSG00000023445.9 | ENST00000527309.1 |
| exon_skip_64632 | 11 | 102201729:102201972:102206696:102206951:102207490:102207532 | 102206696:102206951 | ENSG00000023445.9 | ENST00000263464.3,ENST00000532808.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for BIRC3 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000263464 | 102192567 | 102196093 | 5CDS-5UTR |
| ENST00000263464 | 102206696 | 102206951 | In-frame |
| ENST00000532808 | 102206696 | 102206951 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000263464 | 102192567 | 102196093 | 5CDS-5UTR |
| ENST00000263464 | 102206696 | 102206951 | In-frame |
| ENST00000532808 | 102206696 | 102206951 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BIRC3 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000263464 | 5214 | 604 | 102206696 | 102206951 | 4075 | 4329 | 441 | 526 |
| ENST00000532808 | 4255 | 604 | 102206696 | 102206951 | 1447 | 1701 | 441 | 526 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000263464 | 5214 | 604 | 102206696 | 102206951 | 4075 | 4329 | 441 | 526 |
| ENST00000532808 | 4255 | 604 | 102206696 | 102206951 | 1447 | 1701 | 441 | 526 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q13489 | 441 | 526 | 1 | 604 | Chain | ID=PRO_0000122349;Note=Baculoviral IAP repeat-containing protein 3 |
| Q13489 | 441 | 526 | 1 | 604 | Chain | ID=PRO_0000122349;Note=Baculoviral IAP repeat-containing protein 3 |
| Q13489 | 441 | 526 | 439 | 529 | Domain | Note=CARD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00046 |
| Q13489 | 441 | 526 | 439 | 529 | Domain | Note=CARD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00046 |
| Q13489 | 441 | 526 | 442 | 443 | Site | Note=Breakpoint for translocation to form BIRC3-MALT1 |
| Q13489 | 441 | 526 | 442 | 443 | Site | Note=Breakpoint for translocation to form BIRC3-MALT1 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q13489 | 441 | 526 | 1 | 604 | Chain | ID=PRO_0000122349;Note=Baculoviral IAP repeat-containing protein 3 |
| Q13489 | 441 | 526 | 1 | 604 | Chain | ID=PRO_0000122349;Note=Baculoviral IAP repeat-containing protein 3 |
| Q13489 | 441 | 526 | 439 | 529 | Domain | Note=CARD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00046 |
| Q13489 | 441 | 526 | 439 | 529 | Domain | Note=CARD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00046 |
| Q13489 | 441 | 526 | 442 | 443 | Site | Note=Breakpoint for translocation to form BIRC3-MALT1 |
| Q13489 | 441 | 526 | 442 | 443 | Site | Note=Breakpoint for translocation to form BIRC3-MALT1 |
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SNVs in the skipped exons for BIRC3 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
BIRC3_LIHC_exon_skip_64629_psi_boxplot.png |
BIRC3_STAD_exon_skip_64629_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| STAD | TCGA-BR-8363-01 | exon_skip_64629 | 102192568 | 102196093 | 102195491 | 102195491 | Frame_Shift_Del | A | - | p.E84fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_64629 | 102192568 | 102196093 | 102195911 | 102195911 | Frame_Shift_Del | A | - | p.E224fs |
| STAD | TCGA-CG-5722-01 | exon_skip_64629 | 102192568 | 102196093 | 102195974 | 102195975 | Frame_Shift_Del | AC | - | p.245_245del |
| BRCA | TCGA-EW-A1PB-01 | exon_skip_64632 | 102206697 | 102206951 | 102206908 | 102206909 | Frame_Shift_Del | CT | - | p.L514fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_64629 | 102192568 | 102196093 | 102195490 | 102195491 | Frame_Shift_Ins | - | A | p.K84fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_64629 | 102192568 | 102196093 | 102195575 | 102195576 | Frame_Shift_Ins | - | T | p.I112fs |
| KIRC | TCGA-CW-5587-01 | exon_skip_64632 | 102206697 | 102206951 | 102206888 | 102206889 | Frame_Shift_Ins | - | C | p.A506fs |
| LIHC | TCGA-EP-A2KB-01 | exon_skip_64632 | 102206697 | 102206951 | 102206786 | 102206786 | Nonsense_Mutation | G | T | p.G472X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CG-5722-01 |
| Cancer type: STAD | |
| ESID: exon_skip_64629 | |
| Skipped exon start: 102192568 | |
| Skipped exon end: 102196093 | |
| Mutation start: 102195974 | |
| Mutation end: 102195975 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: AC | |
| Mutation seq: - | |
| AAchange: p.245_245del | |
exon_skip_64629_STAD_TCGA-CG-5722-01.png | |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| HEC251_ENDOMETRIUM | 102192568 | 102196093 | 102195317 | 102195317 | Missense_Mutation | T | G | p.L26W |
| MFE319_ENDOMETRIUM | 102192568 | 102196093 | 102195343 | 102195343 | Missense_Mutation | A | G | p.T35A |
| BONNA12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102192568 | 102196093 | 102195500 | 102195500 | Missense_Mutation | A | C | p.K87T |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102192568 | 102196093 | 102195549 | 102195549 | Missense_Mutation | C | A | p.N103K |
| SNU81_LARGE_INTESTINE | 102192568 | 102196093 | 102195716 | 102195716 | Missense_Mutation | G | T | p.R159I |
| SNU1040_LARGE_INTESTINE | 102192568 | 102196093 | 102195734 | 102195734 | Missense_Mutation | C | G | p.A165G |
| PC9_LUNG | 102192568 | 102196093 | 102195761 | 102195761 | Missense_Mutation | T | G | p.L174R |
| HCT15_LARGE_INTESTINE | 102192568 | 102196093 | 102195841 | 102195841 | Missense_Mutation | G | T | p.D201Y |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102192568 | 102196093 | 102195846 | 102195846 | Missense_Mutation | A | T | p.R202S |
| KMBC2_URINARY_TRACT | 102192568 | 102196093 | 102195846 | 102195846 | Missense_Mutation | A | T | p.R202S |
| BALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102192568 | 102196093 | 102195846 | 102195846 | Missense_Mutation | A | T | p.R202S |
| SF8657_SKIN | 102192568 | 102196093 | 102195846 | 102195846 | Missense_Mutation | A | T | p.R202S |
| SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102192568 | 102196093 | 102195914 | 102195914 | Missense_Mutation | A | G | p.H225R |
| PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102192568 | 102196093 | 102195948 | 102195948 | Missense_Mutation | A | C | p.E236D |
| SNU1040_LARGE_INTESTINE | 102192568 | 102196093 | 102196013 | 102196013 | Missense_Mutation | G | A | p.R258H |
| MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102192568 | 102196093 | 102196052 | 102196052 | Missense_Mutation | T | G | p.V271G |
| MMACSF_SKIN | 102206697 | 102206951 | 102206759 | 102206759 | Missense_Mutation | C | T | p.P463S |
| SNGM_ENDOMETRIUM | 102206697 | 102206951 | 102206850 | 102206850 | Missense_Mutation | G | C | p.R493T |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102206697 | 102206951 | 102206864 | 102206864 | Missense_Mutation | A | G | p.T498A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BIRC3 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BIRC3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BIRC3 |
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RelatedDrugs for BIRC3 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for BIRC3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BIRC3 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| BIRC3 | C0015695 | Fatty Liver | 1 | CTD_human |
| BIRC3 | C0019693 | HIV Infections | 1 | CTD_human |
| BIRC3 | C0023418 | leukemia | 1 | CTD_human |
| BIRC3 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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