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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 BLM |
 Gene summary |
| Gene information | Gene symbol | BLM | Gene ID | 641 |
| Gene name | BLM RecQ like helicase | |
| Synonyms | BS|MGRISCE1|RECQ2|RECQL2|RECQL3 | |
| Cytomap | 15q26.1 | |
| Type of gene | protein-coding | |
| Description | Bloom syndrome proteinBloom syndrome RecQ like helicaseBloom syndrome, RecQ helicase-likeDNA helicase, RecQ-like type 2recQ protein-like 3 | |
| 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 |
| BLM | GO:0000729 | DNA double-strand break processing | 21325134 |
| BLM | GO:0006974 | cellular response to DNA damage stimulus | 23509288 |
| BLM | GO:0007095 | mitotic G2 DNA damage checkpoint | 11309417 |
| BLM | GO:0010165 | response to X-ray | 11309417 |
| BLM | GO:0031297 | replication fork processing | 17115688 |
| BLM | GO:0032508 | DNA duplex unwinding | 11735402|24816114|25901030 |
| BLM | GO:0044806 | G-quadruplex DNA unwinding | 11735402 |
| BLM | GO:0045893 | positive regulation of transcription, DNA-templated | 11781842 |
| BLM | GO:0051259 | protein complex oligomerization | 28228481 |
| BLM | GO:0051260 | protein homooligomerization | 28228481 |
| BLM | GO:0061820 | telomeric D-loop disassembly | 19734539 |
| BLM | GO:0071479 | cellular response to ionizing radiation | 23509288 |
| BLM | GO:0072711 | cellular response to hydroxyurea | 23509288 |
| BLM | GO:0072757 | cellular response to camptothecin | 23509288 |
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Gene structures and expression levels for BLM |
| 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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ENSG00000197299
| 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 |
| TC | UP | ENST00000558599.1 | BLM-202:lncRNA:BLM | 2.451119e+00 | 8.314269e-01 | 7.132607e-03 | 4.365247e-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 BLM |
| 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_106981 | chr15 | 90811205:90811406:90811678:90811800:90815102:90815328 | 90811678:90811800 |
| exon_skip_109771 | chr15 | 90765296:90765414:90766910:90767023:90769133:90769181 | 90766910:90767023 |
| exon_skip_162565 | chr15 | 90754811:90754938:90760147:90760279:90760594:90760822 | 90760147:90760279 |
| exon_skip_184167 | chr15 | 90790649:90790844:90794167:90794357:90798190:90798337 | 90794167:90794357 |
| exon_skip_218628 | chr15 | 90769438:90769586:90782822:90782928:90784921:90785081 | 90782822:90782928 |
| exon_skip_48881 | chr15 | 90754811:90754938:90759981:90760279:90760594:90760822 | 90759981:90760279 |
| 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 BLM |
| 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 |
| ENST00000355112 | 90760147 | 90760279 | Frame-shift |
| ENST00000355112 | 90782822 | 90782928 | 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 |
| ENST00000355112 | 90760147 | 90760279 | Frame-shift |
| 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 |
| ENST00000355112 | 90760147 | 90760279 | Frame-shift |
| ENST00000355112 | 90782822 | 90782928 | Frame-shift |
| ENST00000355112 | 90794167 | 90794357 | Frame-shift |
| ENST00000355112 | 90766910 | 90767023 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BLM |
p-ENSG00000197299_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 |
| ENST00000355112 | 5275 | 1417 | 90766910 | 90767023 | 2313 | 2425 | 731 | 769 |
| 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 |
| P54132 | 731 | 769 | 734 | 741 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4O3M |
| P54132 | 731 | 769 | 755 | 757 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4O3M |
| P54132 | 731 | 769 | 762 | 765 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4O3M |
| P54132 | 731 | 769 | 1 | 1417 | Chain | ID=PRO_0000205039;Note=Bloom syndrome protein |
| P54132 | 731 | 769 | 676 | 851 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|PROSITE-ProRule:PRU00541,ECO:0000305|PubMed:24816114;Dbxref=PMID:24816114 |
| P54132 | 731 | 769 | 743 | 753 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4O3M |
| P54132 | 731 | 769 | 769 | 772 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4O3M |
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3'-UTR located exon skipping events that lost miRNA binding sites in BLM |
| 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 BLM |
| - 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 BLM |
| 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 BLM |
| 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 BLM |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for BLM |
| 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 BLM |
| 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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