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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 BAZ1A |
 Gene summary |
| Gene information | Gene symbol | BAZ1A | Gene ID | 11177 |
| Gene name | bromodomain adjacent to zinc finger domain 1A | |
| Synonyms | ACF1|WALp1|WCRF180|hACF1 | |
| Cytomap | 14q13.1-q13.2 | |
| Type of gene | protein-coding | |
| Description | bromodomain adjacent to zinc finger domain protein 1AATP-dependent chromatin remodeling proteinATP-utilizing chromatin assembly and remodeling factor 1CHRAC subunit ACF1hWALp1williams syndrome transcription factor-related chromatin-remodeling factor | |
| Modification date | 20200313 | |
| 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 |
| BAZ1A | GO:0006261 | DNA-dependent DNA replication | 12434153 |
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Gene structures and expression levels for BAZ1A |
| 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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ENSG00000198604
| 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 |
| CB | UP | ENST00000358716.8 | BAZ1A-201:protein_coding:BAZ1A | 1.032571e+02 | 8.356609e-01 | 2.391688e-04 | 1.549075e-03 |
| 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 BAZ1A |
| 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_12826 | chr14 | 34758704:34758846:34761757:34762223:34764707:34764933 | 34761757:34762223 |
| exon_skip_18523 | chr14 | 34807451:34807538:34810935:34811036:34826013:34826156 | 34810935:34811036 |
| exon_skip_198713 | chr14 | 34785777:34786001:34786126:34786221:34792775:34792835 | 34786126:34786221 |
| exon_skip_265188 | chr14 | 34794749:34794887:34795670:34795765:34800224:34800390 | 34795670:34795765 |
| exon_skip_53422 | chr14 | 34754827:34754914:34758704:34758846:34761757:34761776 | 34758704:34758846 |
| exon_skip_62339 | chr14 | 34785777:34786001:34786126:34786221:34792775:34792921 | 34786126:34786221 |
| exon_skip_63430 | chr14 | 34802854:34802988:34807451:34807538:34810935:34811036 | 34807451:34807538 |
| exon_skip_73652 | chr14 | 34801094:34801193:34802854:34802988:34807451:34807538 | 34802854:34802988 |
| exon_skip_93371 | chr14 | 34753234:34753704:34754827:34754914:34758704:34758846 | 34754827:34754914 |
| 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 BAZ1A |
| 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 |
| ENST00000360310 | 34761757 | 34762223 | Frame-shift |
| ENST00000382422 | 34761757 | 34762223 | Frame-shift |
| ENST00000360310 | 34807451 | 34807538 | Frame-shift |
| ENST00000382422 | 34807451 | 34807538 | Frame-shift |
| ENST00000360310 | 34786126 | 34786221 | In-frame |
| ENST00000382422 | 34786126 | 34786221 | In-frame |
| ENST00000360310 | 34795670 | 34795765 | In-frame |
| ENST00000382422 | 34795670 | 34795765 | In-frame |
| ENST00000360310 | 34802854 | 34802988 | In-frame |
| ENST00000382422 | 34802854 | 34802988 | In-frame |
| ENST00000360310 | 34810935 | 34811036 | In-frame |
| ENST00000382422 | 34810935 | 34811036 | 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 |
| ENST00000360310 | 34761757 | 34762223 | Frame-shift |
| ENST00000382422 | 34761757 | 34762223 | Frame-shift |
| ENST00000360310 | 34786126 | 34786221 | In-frame |
| ENST00000382422 | 34786126 | 34786221 | In-frame |
| ENST00000360310 | 34810935 | 34811036 | In-frame |
| ENST00000382422 | 34810935 | 34811036 | 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 |
| ENST00000360310 | 34754827 | 34754914 | Frame-shift |
| ENST00000382422 | 34754827 | 34754914 | Frame-shift |
| ENST00000360310 | 34758704 | 34758846 | Frame-shift |
| ENST00000382422 | 34758704 | 34758846 | Frame-shift |
| ENST00000360310 | 34761757 | 34762223 | Frame-shift |
| ENST00000382422 | 34761757 | 34762223 | Frame-shift |
| ENST00000360310 | 34807451 | 34807538 | Frame-shift |
| ENST00000382422 | 34807451 | 34807538 | Frame-shift |
| ENST00000360310 | 34786126 | 34786221 | In-frame |
| ENST00000382422 | 34786126 | 34786221 | In-frame |
| ENST00000360310 | 34810935 | 34811036 | In-frame |
| ENST00000382422 | 34810935 | 34811036 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BAZ1A |
p-ENSG00000198604_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 |
| ENST00000360310 | 6027 | 1556 | 34810935 | 34811036 | 1105 | 1205 | 179 | 212 |
| ENST00000382422 | 5792 | 1556 | 34810935 | 34811036 | 865 | 965 | 179 | 212 |
| ENST00000360310 | 6027 | 1556 | 34802854 | 34802988 | 1295 | 1428 | 242 | 286 |
| ENST00000382422 | 5792 | 1556 | 34802854 | 34802988 | 1055 | 1188 | 242 | 286 |
| ENST00000360310 | 6027 | 1556 | 34795670 | 34795765 | 1697 | 1791 | 376 | 407 |
| ENST00000382422 | 5792 | 1556 | 34795670 | 34795765 | 1457 | 1551 | 376 | 407 |
| ENST00000360310 | 6027 | 1556 | 34786126 | 34786221 | 2079 | 2173 | 503 | 535 |
| ENST00000382422 | 5792 | 1556 | 34786126 | 34786221 | 1839 | 1933 | 503 | 535 |
| 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 |
| ENST00000360310 | 6027 | 1556 | 34810935 | 34811036 | 1105 | 1205 | 179 | 212 |
| ENST00000382422 | 5792 | 1556 | 34810935 | 34811036 | 865 | 965 | 179 | 212 |
| ENST00000360310 | 6027 | 1556 | 34786126 | 34786221 | 2079 | 2173 | 503 | 535 |
| ENST00000382422 | 5792 | 1556 | 34786126 | 34786221 | 1839 | 1933 | 503 | 535 |
| 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 |
| ENST00000360310 | 6027 | 1556 | 34810935 | 34811036 | 1105 | 1205 | 179 | 212 |
| ENST00000382422 | 5792 | 1556 | 34810935 | 34811036 | 865 | 965 | 179 | 212 |
| ENST00000360310 | 6027 | 1556 | 34786126 | 34786221 | 2079 | 2173 | 503 | 535 |
| ENST00000382422 | 5792 | 1556 | 34786126 | 34786221 | 1839 | 1933 | 503 | 535 |
| 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 |
| Q9NRL2 | 179 | 212 | 1 | 1556 | Chain | ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A |
| Q9NRL2 | 179 | 212 | 1 | 1556 | Chain | ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A |
| Q9NRL2 | 242 | 286 | 1 | 1556 | Chain | ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A |
| Q9NRL2 | 242 | 286 | 1 | 1556 | Chain | ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A |
| Q9NRL2 | 242 | 286 | 270 | 270 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231;Dbxref=PMID:19690332,PMID:20068231 |
| Q9NRL2 | 242 | 286 | 270 | 270 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231;Dbxref=PMID:19690332,PMID:20068231 |
| Q9NRL2 | 376 | 407 | 1 | 1556 | Chain | ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A |
| Q9NRL2 | 376 | 407 | 1 | 1556 | Chain | ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A |
| Q9NRL2 | 376 | 407 | 306 | 397 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NRL2 | 376 | 407 | 306 | 397 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NRL2 | 503 | 535 | 504 | 535 | Alternative sequence | ID=VSP_000551;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10655480;Dbxref=PMID:10655480 |
| Q9NRL2 | 503 | 535 | 504 | 535 | Alternative sequence | ID=VSP_000551;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10655480;Dbxref=PMID:10655480 |
| Q9NRL2 | 503 | 535 | 1 | 1556 | Chain | ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A |
| Q9NRL2 | 503 | 535 | 1 | 1556 | Chain | ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A |
| Q9NRL2 | 503 | 535 | 503 | 508 | Sequence conflict | Note=KDLTEA->QDFTEP;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRL2 | 503 | 535 | 503 | 508 | Sequence conflict | Note=KDLTEA->QDFTEP;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRL2 | 503 | 535 | 525 | 525 | Sequence conflict | Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRL2 | 503 | 535 | 525 | 525 | Sequence conflict | Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9NRL2 | 179 | 212 | 1 | 1556 | Chain | ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A |
| Q9NRL2 | 179 | 212 | 1 | 1556 | Chain | ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A |
| Q9NRL2 | 503 | 535 | 504 | 535 | Alternative sequence | ID=VSP_000551;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10655480;Dbxref=PMID:10655480 |
| Q9NRL2 | 503 | 535 | 504 | 535 | Alternative sequence | ID=VSP_000551;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10655480;Dbxref=PMID:10655480 |
| Q9NRL2 | 503 | 535 | 1 | 1556 | Chain | ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A |
| Q9NRL2 | 503 | 535 | 1 | 1556 | Chain | ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A |
| Q9NRL2 | 503 | 535 | 503 | 508 | Sequence conflict | Note=KDLTEA->QDFTEP;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRL2 | 503 | 535 | 503 | 508 | Sequence conflict | Note=KDLTEA->QDFTEP;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRL2 | 503 | 535 | 525 | 525 | Sequence conflict | Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRL2 | 503 | 535 | 525 | 525 | Sequence conflict | Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9NRL2 | 179 | 212 | 1 | 1556 | Chain | ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A |
| Q9NRL2 | 179 | 212 | 1 | 1556 | Chain | ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A |
| Q9NRL2 | 503 | 535 | 504 | 535 | Alternative sequence | ID=VSP_000551;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10655480;Dbxref=PMID:10655480 |
| Q9NRL2 | 503 | 535 | 504 | 535 | Alternative sequence | ID=VSP_000551;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10655480;Dbxref=PMID:10655480 |
| Q9NRL2 | 503 | 535 | 1 | 1556 | Chain | ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A |
| Q9NRL2 | 503 | 535 | 1 | 1556 | Chain | ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A |
| Q9NRL2 | 503 | 535 | 503 | 508 | Sequence conflict | Note=KDLTEA->QDFTEP;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRL2 | 503 | 535 | 503 | 508 | Sequence conflict | Note=KDLTEA->QDFTEP;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRL2 | 503 | 535 | 525 | 525 | Sequence conflict | Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRL2 | 503 | 535 | 525 | 525 | Sequence conflict | Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in BAZ1A |
| 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 BAZ1A |
| - 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 BAZ1A |
| 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 BAZ1A |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for BAZ1A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for BAZ1A |
| 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 BAZ1A |
| 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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