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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 BCL2L12 |
Gene summary |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
BCL2L12 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 22262180 |
BCL2L12 | GO:1990001 | inhibition of cysteine-type endopeptidase activity involved in apoptotic process | 22262180 |
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Gene structures and expression levels for BCL2L12 |
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 | UP | ENST00000598979.5 | BCL2L12-207:nonsense_mediated_decay:BCL2L12 | 1.890165e+00 | 1.077931e+00 | 5.315091e-03 | 4.769972e-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 BCL2L12 |
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_128849 | chr19 | 49668851:49668937:49669024:49669164:49673698:49673859 | 49669024:49669164 |
exon_skip_229410 | chr19 | 49668851:49668937:49669024:49669115:49673698:49673916 | 49669024:49669115 |
exon_skip_56132 | chr19 | 49666685:49666799:49667019:49667161:49668851:49668937 | 49667019:49667161 |
exon_skip_87347 | chr19 | 49668851:49668937:49669024:49669115:49673698:49673859 | 49669024:49669115 |
exon_skip_88454 | chr19 | 49669024:49669115:49670216:49670488:49673698:49673859 | 49670216:49670488 |
exon_skip_96889 | chr19 | 49666685:49666799:49667022:49667161:49668851:49668937 | 49667022:49667161 |
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 BCL2L12 |
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 |
ENST00000246785 | 49667019 | 49667161 | Frame-shift |
ENST00000616144 | 49667019 | 49667161 | Frame-shift |
ENST00000246785 | 49670216 | 49670488 | In-frame |
ENST00000616144 | 49670216 | 49670488 | 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 |
ENST00000246785 | 49667019 | 49667161 | Frame-shift |
ENST00000616144 | 49667019 | 49667161 | Frame-shift |
ENST00000246785 | 49670216 | 49670488 | In-frame |
ENST00000616144 | 49670216 | 49670488 | 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 |
ENST00000246785 | 49667019 | 49667161 | Frame-shift |
ENST00000616144 | 49667019 | 49667161 | Frame-shift |
ENST00000246785 | 49670216 | 49670488 | In-frame |
ENST00000616144 | 49670216 | 49670488 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BCL2L12 |
p-ENSG00000126453_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 |
ENST00000246785 | 1448 | 334 | 49670216 | 49670488 | 941 | 1212 | 227 | 318 |
ENST00000616144 | 1871 | 334 | 49670216 | 49670488 | 1365 | 1636 | 227 | 318 |
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 |
ENST00000246785 | 1448 | 334 | 49670216 | 49670488 | 941 | 1212 | 227 | 318 |
ENST00000616144 | 1871 | 334 | 49670216 | 49670488 | 1365 | 1636 | 227 | 318 |
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 |
ENST00000246785 | 1448 | 334 | 49670216 | 49670488 | 941 | 1212 | 227 | 318 |
ENST00000616144 | 1871 | 334 | 49670216 | 49670488 | 1365 | 1636 | 227 | 318 |
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 |
Q9HB09 | 227 | 318 | 177 | 334 | Alternative sequence | ID=VSP_000523;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q9HB09 | 227 | 318 | 177 | 334 | Alternative sequence | ID=VSP_000523;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q9HB09 | 227 | 318 | 1 | 334 | Chain | ID=PRO_0000143072;Note=Bcl-2-like protein 12 |
Q9HB09 | 227 | 318 | 1 | 334 | Chain | ID=PRO_0000143072;Note=Bcl-2-like protein 12 |
Q9HB09 | 227 | 318 | 242 | 242 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692 |
Q9HB09 | 227 | 318 | 242 | 242 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692 |
Q9HB09 | 227 | 318 | 243 | 243 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
Q9HB09 | 227 | 318 | 243 | 243 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
Q9HB09 | 227 | 318 | 245 | 245 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q9HB09 | 227 | 318 | 245 | 245 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q9HB09 | 227 | 318 | 273 | 273 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q9HB09 | 227 | 318 | 273 | 273 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q9HB09 | 227 | 318 | 311 | 322 | Motif | Note=BH2 |
Q9HB09 | 227 | 318 | 311 | 322 | Motif | Note=BH2 |
Q9HB09 | 227 | 318 | 270 | 270 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q9HB09 | 227 | 318 | 270 | 270 | Sequence conflict | Note=P->S;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 |
Q9HB09 | 227 | 318 | 177 | 334 | Alternative sequence | ID=VSP_000523;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q9HB09 | 227 | 318 | 177 | 334 | Alternative sequence | ID=VSP_000523;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q9HB09 | 227 | 318 | 1 | 334 | Chain | ID=PRO_0000143072;Note=Bcl-2-like protein 12 |
Q9HB09 | 227 | 318 | 1 | 334 | Chain | ID=PRO_0000143072;Note=Bcl-2-like protein 12 |
Q9HB09 | 227 | 318 | 242 | 242 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692 |
Q9HB09 | 227 | 318 | 242 | 242 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692 |
Q9HB09 | 227 | 318 | 243 | 243 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
Q9HB09 | 227 | 318 | 243 | 243 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
Q9HB09 | 227 | 318 | 245 | 245 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q9HB09 | 227 | 318 | 245 | 245 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q9HB09 | 227 | 318 | 273 | 273 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q9HB09 | 227 | 318 | 273 | 273 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q9HB09 | 227 | 318 | 311 | 322 | Motif | Note=BH2 |
Q9HB09 | 227 | 318 | 311 | 322 | Motif | Note=BH2 |
Q9HB09 | 227 | 318 | 270 | 270 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q9HB09 | 227 | 318 | 270 | 270 | Sequence conflict | Note=P->S;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 |
Q9HB09 | 227 | 318 | 177 | 334 | Alternative sequence | ID=VSP_000523;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q9HB09 | 227 | 318 | 177 | 334 | Alternative sequence | ID=VSP_000523;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q9HB09 | 227 | 318 | 1 | 334 | Chain | ID=PRO_0000143072;Note=Bcl-2-like protein 12 |
Q9HB09 | 227 | 318 | 1 | 334 | Chain | ID=PRO_0000143072;Note=Bcl-2-like protein 12 |
Q9HB09 | 227 | 318 | 242 | 242 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692 |
Q9HB09 | 227 | 318 | 242 | 242 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692 |
Q9HB09 | 227 | 318 | 243 | 243 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
Q9HB09 | 227 | 318 | 243 | 243 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
Q9HB09 | 227 | 318 | 245 | 245 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q9HB09 | 227 | 318 | 245 | 245 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q9HB09 | 227 | 318 | 273 | 273 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q9HB09 | 227 | 318 | 273 | 273 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q9HB09 | 227 | 318 | 311 | 322 | Motif | Note=BH2 |
Q9HB09 | 227 | 318 | 311 | 322 | Motif | Note=BH2 |
Q9HB09 | 227 | 318 | 270 | 270 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q9HB09 | 227 | 318 | 270 | 270 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in BCL2L12 |
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 BCL2L12 |
- 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 BCL2L12 |
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 BCL2L12 |
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 BCL2L12 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for BCL2L12 |
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 BCL2L12 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |