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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for BAX |
 Gene summary |
| Gene information | Gene symbol | BAX | Gene ID | 581 |
| Gene name | BCL2 associated X, apoptosis regulator | |
| Synonyms | BCL2L4 | |
| Cytomap | 19q13.33 | |
| Type of gene | protein-coding | |
| Description | apoptosis regulator BAXBCL2 associated X proteinBCL2-associated X protein omegaBaxdelta2G9Baxdelta2G9omegaBaxdelta2omegabcl-2-like protein 4bcl2-L-4 | |
| Modification date | 20200322 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| BAX | GO:0001783 | B cell apoptotic process | 15214043|16424160 |
| BAX | GO:0001836 | release of cytochrome c from mitochondria | 9843949|16199525|17052454 |
| BAX | GO:0006915 | apoptotic process | 9660918 |
| BAX | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 11912183 |
| BAX | GO:0008053 | mitochondrial fusion | 14769861 |
| BAX | GO:0008635 | activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c | 15214043 |
| BAX | GO:0008637 | apoptotic mitochondrial changes | 9843949 |
| BAX | GO:0009636 | response to toxic substance | 16307838 |
| BAX | GO:0010248 | establishment or maintenance of transmembrane electrochemical gradient | 9843949 |
| BAX | GO:0010917 | negative regulation of mitochondrial membrane potential | 16751333 |
| BAX | GO:0031334 | positive regulation of protein complex assembly | 9111042|19805544 |
| BAX | GO:0032091 | negative regulation of protein binding | 9388232 |
| BAX | GO:0032976 | release of matrix enzymes from mitochondria | 9843949 |
| BAX | GO:0043065 | positive regulation of apoptotic process | 16751333|17464193 |
| BAX | GO:0043525 | positive regulation of neuron apoptotic process | 15637643 |
| BAX | GO:0043653 | mitochondrial fragmentation involved in apoptotic process | 12499352 |
| BAX | GO:0051881 | regulation of mitochondrial membrane potential | 9843949 |
| BAX | GO:0090200 | positive regulation of release of cytochrome c from mitochondria | 14963330 |
| BAX | GO:0097190 | apoptotic signaling pathway | 16424160 |
| BAX | GO:0097191 | extrinsic apoptotic signaling pathway | 15214043 |
| BAX | GO:0097193 | intrinsic apoptotic signaling pathway | 9219694|16462759 |
| BAX | GO:1990117 | B cell receptor apoptotic signaling pathway | 15214043 |
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Gene structures and expression levels for BAX |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000087088
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| STG | UP | ENST00000293288.12 | BAX-201:protein_coding:BAX | 1.117354e+01 | 8.373443e-01 | 2.606017e-04 | 1.922050e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for BAX |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_127547 | chr19 | 48954929:48954962:48955548:48955599:48956198:48956316 | 48955548:48955599 |
| exon_skip_149569 | chr19 | 48956307:48956333:48960239:48960336:48960810:48960835 | 48960239:48960336 |
| exon_skip_153265 | chr19 | 48954929:48954962:48955548:48955599:48956198:48956263 | 48955548:48955599 |
| exon_skip_162437 | chr19 | 48956198:48956333:48960239:48960336:48960810:48960835 | 48960239:48960336 |
| exon_skip_188849 | chr19 | 48954929:48954962:48955687:48955833:48956198:48956263 | 48955687:48955833 |
| exon_skip_190809 | chr19 | 48954929:48954962:48955548:48955599:48956198:48956333 | 48955548:48955599 |
| exon_skip_198478 | chr19 | 48956198:48956333:48960239:48960336:48960810:48960906 | 48960239:48960336 |
| exon_skip_211493 | chr19 | 48955548:48955599:48955687:48955833:48956198:48956263 | 48955687:48955833 |
| exon_skip_25136 | chr19 | 48955548:48955599:48955687:48955833:48956198:48956316 | 48955687:48955833 |
| exon_skip_271714 | chr19 | 48956198:48956333:48960239:48960336:48960810:48960914 | 48960239:48960336 |
| exon_skip_282090 | chr19 | 48954929:48954962:48955548:48955599:48955687:48955713 | 48955548:48955599 |
| exon_skip_35791 | chr19 | 48954929:48954962:48955548:48955833:48956198:48956316 | 48955548:48955833 |
| exon_skip_55399 | chr19 | 48954929:48954962:48955687:48955833:48956198:48956316 | 48955687:48955833 |
| exon_skip_74108 | chr19 | 48955548:48955599:48955687:48955833:48956198:48956333 | 48955687:48955833 |
| exon_skip_82577 | chr19 | 48954929:48954962:48955548:48955833:48956198:48956263 | 48955548:48955833 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for BAX |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000345358 | 48955548 | 48955599 | Frame-shift |
| ENST00000345358 | 48955687 | 48955833 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000345358 | 48955548 | 48955599 | Frame-shift |
| ENST00000345358 | 48955687 | 48955833 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000345358 | 48955548 | 48955599 | Frame-shift |
| ENST00000345358 | 48955687 | 48955833 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BAX |
p-ENSG00000087088_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000345358 | 810 | 192 | 48955687 | 48955833 | 140 | 285 | 29 | 77 |
| Loci of skipped exons in MSBB 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 |
| ENST00000345358 | 810 | 192 | 48955687 | 48955833 | 140 | 285 | 29 | 77 |
| Loci of skipped exons in Mayo 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 |
| ENST00000345358 | 810 | 192 | 48955687 | 48955833 | 140 | 285 | 29 | 77 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q07812 | 29 | 77 | 1 | 78 | Alternative sequence | ID=VSP_031239;Note=In isoform Zeta. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.6 |
| Q07812 | 29 | 77 | 12 | 41 | Alternative sequence | ID=VSP_031234;Note=In isoform Gamma. GPTSSEQIMKTGALLLQGFIQDRAGRMGGE->VSSRIEQGEWGGRHPSWPWTRCLRMRPPRS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8358790;Dbxref=PMID:8358790 |
| Q07812 | 29 | 77 | 30 | 78 | Alternative sequence | ID=VSP_031235;Note=In isoform Delta. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7607685;Dbxref=PMID:7607685 |
| Q07812 | 29 | 77 | 42 | 192 | Alternative sequence | ID=VSP_031236;Note=In isoform Gamma. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8358790;Dbxref=PMID:8358790 |
| Q07812 | 29 | 77 | 1 | 192 | Chain | ID=PRO_0000143053;Note=Apoptosis regulator BAX |
| Q07812 | 29 | 77 | 16 | 34 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZIE |
| Q07812 | 29 | 77 | 36 | 38 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2K7W |
| Q07812 | 29 | 77 | 43 | 45 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4S0O |
| Q07812 | 29 | 77 | 54 | 71 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZIE |
| Q07812 | 29 | 77 | 74 | 82 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZIE |
| Q07812 | 29 | 77 | 59 | 73 | Motif | Note=BH3 |
| Q07812 | 29 | 77 | 74 | 74 | Mutagenesis | Note=Strongly reduced interaction with MCL1%2C BCL2%2C BCL2L1 and BCL2L2. No effect on cytochrome c release and subsequent apoptosis triggered by etoposide. M->D%2CE;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21199865;Dbxref=PMID:21199865 |
| Q07812 | 29 | 77 | 39 | 39 | Natural variant | ID=VAR_047053;Note=G->R;Dbxref=dbSNP:rs36017265 |
| Q07812 | 29 | 77 | 67 | 67 | Natural variant | ID=VAR_007809;Note=In a T-cell acute lymphoblastic leukemia cell line%3B loss of heterodimerization with Bcl-2 or Bcl-X(L). G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7475270,ECO:0000269|PubMed:9531611;Dbxref=dbSNP:rs398122513, |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Q07812 | 29 | 77 | 1 | 78 | Alternative sequence | ID=VSP_031239;Note=In isoform Zeta. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.6 |
| Q07812 | 29 | 77 | 12 | 41 | Alternative sequence | ID=VSP_031234;Note=In isoform Gamma. GPTSSEQIMKTGALLLQGFIQDRAGRMGGE->VSSRIEQGEWGGRHPSWPWTRCLRMRPPRS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8358790;Dbxref=PMID:8358790 |
| Q07812 | 29 | 77 | 30 | 78 | Alternative sequence | ID=VSP_031235;Note=In isoform Delta. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7607685;Dbxref=PMID:7607685 |
| Q07812 | 29 | 77 | 42 | 192 | Alternative sequence | ID=VSP_031236;Note=In isoform Gamma. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8358790;Dbxref=PMID:8358790 |
| Q07812 | 29 | 77 | 1 | 192 | Chain | ID=PRO_0000143053;Note=Apoptosis regulator BAX |
| Q07812 | 29 | 77 | 16 | 34 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZIE |
| Q07812 | 29 | 77 | 36 | 38 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2K7W |
| Q07812 | 29 | 77 | 43 | 45 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4S0O |
| Q07812 | 29 | 77 | 54 | 71 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZIE |
| Q07812 | 29 | 77 | 74 | 82 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZIE |
| Q07812 | 29 | 77 | 59 | 73 | Motif | Note=BH3 |
| Q07812 | 29 | 77 | 74 | 74 | Mutagenesis | Note=Strongly reduced interaction with MCL1%2C BCL2%2C BCL2L1 and BCL2L2. No effect on cytochrome c release and subsequent apoptosis triggered by etoposide. M->D%2CE;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21199865;Dbxref=PMID:21199865 |
| Q07812 | 29 | 77 | 39 | 39 | Natural variant | ID=VAR_047053;Note=G->R;Dbxref=dbSNP:rs36017265 |
| Q07812 | 29 | 77 | 67 | 67 | Natural variant | ID=VAR_007809;Note=In a T-cell acute lymphoblastic leukemia cell line%3B loss of heterodimerization with Bcl-2 or Bcl-X(L). G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7475270,ECO:0000269|PubMed:9531611;Dbxref=dbSNP:rs398122513, |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| Q07812 | 29 | 77 | 1 | 78 | Alternative sequence | ID=VSP_031239;Note=In isoform Zeta. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.6 |
| Q07812 | 29 | 77 | 12 | 41 | Alternative sequence | ID=VSP_031234;Note=In isoform Gamma. GPTSSEQIMKTGALLLQGFIQDRAGRMGGE->VSSRIEQGEWGGRHPSWPWTRCLRMRPPRS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8358790;Dbxref=PMID:8358790 |
| Q07812 | 29 | 77 | 30 | 78 | Alternative sequence | ID=VSP_031235;Note=In isoform Delta. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7607685;Dbxref=PMID:7607685 |
| Q07812 | 29 | 77 | 42 | 192 | Alternative sequence | ID=VSP_031236;Note=In isoform Gamma. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8358790;Dbxref=PMID:8358790 |
| Q07812 | 29 | 77 | 1 | 192 | Chain | ID=PRO_0000143053;Note=Apoptosis regulator BAX |
| Q07812 | 29 | 77 | 16 | 34 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZIE |
| Q07812 | 29 | 77 | 36 | 38 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2K7W |
| Q07812 | 29 | 77 | 43 | 45 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4S0O |
| Q07812 | 29 | 77 | 54 | 71 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZIE |
| Q07812 | 29 | 77 | 74 | 82 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZIE |
| Q07812 | 29 | 77 | 59 | 73 | Motif | Note=BH3 |
| Q07812 | 29 | 77 | 74 | 74 | Mutagenesis | Note=Strongly reduced interaction with MCL1%2C BCL2%2C BCL2L1 and BCL2L2. No effect on cytochrome c release and subsequent apoptosis triggered by etoposide. M->D%2CE;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21199865;Dbxref=PMID:21199865 |
| Q07812 | 29 | 77 | 39 | 39 | Natural variant | ID=VAR_047053;Note=G->R;Dbxref=dbSNP:rs36017265 |
| Q07812 | 29 | 77 | 67 | 67 | Natural variant | ID=VAR_007809;Note=In a T-cell acute lymphoblastic leukemia cell line%3B loss of heterodimerization with Bcl-2 or Bcl-X(L). G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7475270,ECO:0000269|PubMed:9531611;Dbxref=dbSNP:rs398122513, |
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3'-UTR located exon skipping events that lost miRNA binding sites in BAX |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for BAX |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for BAX |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BAX |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| TC | exon_skip_188849 | rs2387583 | chr19:48958048 | 7.735672e-07 | 2.699572e-04 |
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Correlation with RNA binding proteins (RBPs) for BAX |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_282090 | -4.774308e-01 | 1.977790e-10 |
| CB | RBM4 | exon_skip_282090 | -5.582113e-01 | 2.094946e-14 |
| IFG | HNRNPF | exon_skip_282090 | -4.577988e-01 | 2.804764e-02 |
| TC | HNRNPH2 | exon_skip_282090 | 4.339527e-01 | 9.887619e-09 |
| TC | NOVA1 | exon_skip_282090 | 4.250560e-01 | 2.113831e-08 |
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RelatedDrugs for BAX |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for BAX |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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