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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 BMS1 |
 Gene summary |
| Gene information | Gene symbol | BMS1 | Gene ID | 9790 |
| Gene name | BMS1 ribosome biogenesis factor | |
| Synonyms | ACC|BMS1L | |
| Cytomap | 10q11.21 | |
| Type of gene | protein-coding | |
| Description | ribosome biogenesis protein BMS1 homologBMS1 homolog, ribosome assembly proteinBMS1-like, ribosome assembly proteinribosome assembly protein BMS1 homolog | |
| Modification date | 20200313 | |
| UniProtAcc | Q14692, | |
| Context |
| 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 BMS1 |
| 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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ENSG00000165733
| 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 |
| 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 BMS1 |
| 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_101803 | chr10 | 42798468:42798625:42802137:42802218:42816599:42816672 | 42802137:42802218 |
| exon_skip_17240 | chr10 | 42817318:42817494:42820236:42820424:42820508:42820688 | 42820236:42820424 |
| exon_skip_179882 | chr10 | 42820236:42820424:42820508:42820688:42820934:42820992 | 42820508:42820688 |
| exon_skip_246480 | chr10 | 42787168:42787247:42790323:42790511:42791627:42791769 | 42790323:42790511 |
| exon_skip_250369 | chr10 | 42822062:42822184:42823118:42823265:42823609:42823784 | 42823118:42823265 |
| exon_skip_261938 | chr10 | 42802137:42802218:42816599:42816672:42817318:42817494 | 42816599:42816672 |
| exon_skip_45891 | chr10 | 42790323:42790511:42791627:42791769:42792493:42792614 | 42791627:42791769 |
| 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 BMS1 |
| 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 |
| ENST00000374518 | 42802137 | 42802218 | Frame-shift |
| ENST00000374518 | 42816599 | 42816672 | Frame-shift |
| ENST00000374518 | 42823118 | 42823265 | 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 |
| ENST00000374518 | 42820236 | 42820424 | 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 |
| ENST00000374518 | 42791627 | 42791769 | Frame-shift |
| ENST00000374518 | 42802137 | 42802218 | Frame-shift |
| ENST00000374518 | 42816599 | 42816672 | Frame-shift |
| ENST00000374518 | 42820508 | 42820688 | Frame-shift |
| ENST00000374518 | 42790323 | 42790511 | In-frame |
| ENST00000374518 | 42820236 | 42820424 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BMS1 |
p-ENSG00000165733_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 |
| ENST00000374518 | 7770 | 1282 | 42820236 | 42820424 | 2645 | 2832 | 860 | 923 |
| 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 |
| ENST00000374518 | 7770 | 1282 | 42790323 | 42790511 | 512 | 699 | 149 | 212 |
| ENST00000374518 | 7770 | 1282 | 42820236 | 42820424 | 2645 | 2832 | 860 | 923 |
| 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 |
| Q14692 | 860 | 923 | 1 | 1282 | Chain | ID=PRO_0000195004;Note=Ribosome biogenesis protein BMS1 homolog |
| Q14692 | 860 | 923 | 884 | 884 | Natural variant | ID=VAR_057506;Note=M->V;Dbxref=dbSNP:rs2419109 |
| 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 |
| Q14692 | 149 | 212 | 1 | 1282 | Chain | ID=PRO_0000195004;Note=Ribosome biogenesis protein BMS1 homolog |
| Q14692 | 149 | 212 | 80 | 246 | Domain | Note=Bms1-type G |
| Q14692 | 149 | 212 | 188 | 188 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q14692 | 860 | 923 | 1 | 1282 | Chain | ID=PRO_0000195004;Note=Ribosome biogenesis protein BMS1 homolog |
| Q14692 | 860 | 923 | 884 | 884 | Natural variant | ID=VAR_057506;Note=M->V;Dbxref=dbSNP:rs2419109 |
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3'-UTR located exon skipping events that lost miRNA binding sites in BMS1 |
| 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 BMS1 |
| - 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 BMS1 |
| 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 BMS1 |
| 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 BMS1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SNRPA | exon_skip_261938 | -4.143863e-01 | 7.539439e-08 |
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RelatedDrugs for BMS1 |
| 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 BMS1 |
| 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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