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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for BAIAP2 |
Gene summary |
Gene information | Gene symbol | BAIAP2 | Gene ID | 10458 |
Gene name | BAR/IMD domain containing adaptor protein 2 | |
Synonyms | BAP2|FLAF3|IRSP53|WAML | |
Cytomap | 17q25.3 | |
Type of gene | protein-coding | |
Description | brain-specific angiogenesis inhibitor 1-associated protein 2BAI1 associated protein 2IRS-58IRSp53/58WASP and MIM likefas ligand-associated factor 3insulin receptor substrate of 53 kDainsulin receptor substrate p53/p58insulin receptor substrate pro | |
Modification date | 20200327 | |
UniProtAcc | B4DWA1, I3L0M4, | |
Context | - 26560964(Severe learning deficits of IRSp53 mutant mice are caused by altered NMDA receptor-dependent signal transduction) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for BAIAP2 |
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. |
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. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
PG | DOWN | ENST00000572918.5 | BAIAP2-211:protein_coding:BAIAP2 | 2.047562e+01 | -8.707022e-01 | 3.000128e-03 | 3.184256e-02 |
CB | UP | ENST00000576470.5 | BAIAP2-227:retained_intron:BAIAP2 | 1.755016e+01 | 1.080200e+00 | 1.028259e-04 | 7.583702e-04 |
TC | UP | ENST00000576756.5 | BAIAP2-228:protein_coding:BAIAP2 | 5.020836e+00 | 8.394166e-01 | 7.824405e-03 | 4.672225e-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 BAIAP2 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_106851 | chr17 | 81035176:81035308:81036863:81036961:81053668:81053733 | 81036863:81036961 |
exon_skip_187459 | chr17 | 81035176:81035308:81036863:81036961:81053668:81053739 | 81036863:81036961 |
exon_skip_19338 | chr17 | 81108475:81108509:81110914:81110955:81115770:81116225 | 81110914:81110955 |
exon_skip_199329 | chr17 | 81108475:81108509:81110914:81110959:81115770:81115817 | 81110914:81110959 |
exon_skip_201525 | chr17 | 81103502:81103723:81103907:81104108:81104514:81104566 | 81103907:81104108 |
exon_skip_248624 | chr17 | 81106078:81106146:81106745:81106907:81108475:81108509 | 81106745:81106907 |
exon_skip_290420 | chr17 | 81035176:81035308:81053668:81053743:81057881:81057967 | 81053668:81053743 |
exon_skip_44410 | chr17 | 81035176:81035308:81053668:81053791:81057881:81057967 | 81053668:81053791 |
exon_skip_53063 | chr17 | 81108475:81108509:81110914:81110955:81115770:81115817 | 81110914:81110955 |
exon_skip_68332 | chr17 | 81104002:81104108:81104511:81104715:81106078:81106146 | 81104511:81104715 |
exon_skip_73807 | chr17 | 81104002:81104108:81104514:81104715:81106078:81106146 | 81104514:81104715 |
exon_skip_74967 | chr17 | 81036003:81036057:81036863:81036961:81053668:81053739 | 81036863:81036961 |
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 BAIAP2 |
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 |
ENST00000321300 | 81104514 | 81104715 | Frame-shift |
ENST00000321300 | 81106745 | 81106907 | Frame-shift |
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 |
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 |
ENST00000321300 | 81053668 | 81053743 | Frame-shift |
ENST00000321300 | 81103907 | 81104108 | Frame-shift |
ENST00000321300 | 81104514 | 81104715 | Frame-shift |
ENST00000321300 | 81106745 | 81106907 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for BAIAP2 |
p-ENSG00000175866_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 |
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 |
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 |
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 |
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 |
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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in BAIAP2 |
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 BAIAP2 |
- 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 BAIAP2 |
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 |
ADstage | MSBB | IFG | exon_skip_187459 | 4.113197e-01 | 2.966362e-02 | chr17 | + | 81035176 | 81035308 | 81036863 | 81036961 | 81053668 | 81053739 |
CDR | MSBB | IFG | exon_skip_187459 | 4.245916e-01 | 2.431861e-02 | chr17 | + | 81035176 | 81035308 | 81036863 | 81036961 | 81053668 | 81053739 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BAIAP2 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
HCC | exon_skip_199329 | rs12103867 | chr17:81176854 | 4.013783e-04 | 2.847546e-02 |
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Correlation with RNA binding proteins (RBPs) for BAIAP2 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
HCC | SRSF4 | exon_skip_24059 | -4.169771e-01 | 1.578016e-12 |
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RelatedDrugs for BAIAP2 |
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 BAIAP2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |