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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 HLCS |
 Gene summary |
| Gene information | Gene symbol | HLCS | Gene ID | 3141 |
| Gene name | holocarboxylase synthetase | |
| Synonyms | HCS | |
| Cytomap | 21q22.13 | |
| Type of gene | protein-coding | |
| Description | biotin--protein ligasebiotin apo-protein ligasebiotin--[acetyl-CoA-carboxylase] ligasebiotin--[methylcrotonoyl-CoA-carboxylase] ligasebiotin--[methylmalonyl-CoA-carboxytransferase] ligaseholocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase | |
| 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 |
| HLCS | GO:0009305 | protein biotinylation | 7842009 |
| HLCS | GO:0016570 | histone modification | 14613969 |
| HLCS | GO:0070781 | response to biotin | 17904341 |
| HLCS | GO:0071110 | histone biotinylation | 14613969 |
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Gene structures and expression levels for HLCS |
| 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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ENSG00000159267
| 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 HLCS |
| 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_205833 | chr21 | 36938832:36938994:36947333:36948287:36962036:36962170 | 36947333:36948287 |
| exon_skip_223390 | chr21 | 36759727:36759841:36765012:36765172:36767218:36767285 | 36765012:36765172 |
| exon_skip_290134 | chr21 | 36751192:36754417:36756542:36756755:36759727:36759841 | 36756542:36756755 |
| exon_skip_44272 | chr21 | 36938832:36938994:36946009:36946154:36962036:36962170 | 36946009:36946154 |
| exon_skip_6714 | chr21 | 36937214:36937392:36938832:36938994:36962036:36962170 | 36938832:36938994 |
| exon_skip_71367 | chr21 | 36896860:36897131:36930251:36930433:36936449:36937392 | 36930251:36930433 |
| exon_skip_73232 | chr21 | 36938832:36938994:36948166:36948287:36962036:36962170 | 36948166:36948287 |
| 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 HLCS |
| 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 |
| ENST00000336648 | 36946009 | 36946154 | 3UTR-3UTR |
| ENST00000612277 | 36946009 | 36946154 | 3UTR-3UTR |
| ENST00000399120 | 36947333 | 36948287 | 3UTR-3UTR |
| ENST00000336648 | 36756542 | 36756755 | Frame-shift |
| ENST00000399120 | 36756542 | 36756755 | Frame-shift |
| ENST00000612277 | 36756542 | 36756755 | Frame-shift |
| ENST00000336648 | 36765012 | 36765172 | Frame-shift |
| ENST00000399120 | 36765012 | 36765172 | Frame-shift |
| ENST00000612277 | 36765012 | 36765172 | Frame-shift |
| ENST00000336648 | 36930251 | 36930433 | In-frame |
| ENST00000399120 | 36930251 | 36930433 | In-frame |
| ENST00000612277 | 36930251 | 36930433 | 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 |
| ENST00000336648 | 36946009 | 36946154 | 3UTR-3UTR |
| ENST00000612277 | 36946009 | 36946154 | 3UTR-3UTR |
| ENST00000336648 | 36756542 | 36756755 | Frame-shift |
| ENST00000399120 | 36756542 | 36756755 | Frame-shift |
| ENST00000612277 | 36756542 | 36756755 | Frame-shift |
| ENST00000336648 | 36765012 | 36765172 | Frame-shift |
| ENST00000399120 | 36765012 | 36765172 | Frame-shift |
| ENST00000612277 | 36765012 | 36765172 | 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 |
| ENST00000336648 | 36946009 | 36946154 | 3UTR-3UTR |
| ENST00000612277 | 36946009 | 36946154 | 3UTR-3UTR |
| ENST00000399120 | 36947333 | 36948287 | 3UTR-3UTR |
| ENST00000336648 | 36756542 | 36756755 | Frame-shift |
| ENST00000399120 | 36756542 | 36756755 | Frame-shift |
| ENST00000612277 | 36756542 | 36756755 | Frame-shift |
| ENST00000336648 | 36765012 | 36765172 | Frame-shift |
| ENST00000399120 | 36765012 | 36765172 | Frame-shift |
| ENST00000612277 | 36765012 | 36765172 | Frame-shift |
| ENST00000336648 | 36930251 | 36930433 | In-frame |
| ENST00000399120 | 36930251 | 36930433 | In-frame |
| ENST00000612277 | 36930251 | 36930433 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HLCS |
p-ENSG00000159267_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 |
| ENST00000336648 | 6027 | 726 | 36930251 | 36930433 | 1468 | 1649 | 332 | 392 |
| ENST00000399120 | 6483 | 726 | 36930251 | 36930433 | 2228 | 2409 | 332 | 392 |
| ENST00000612277 | 6129 | 726 | 36930251 | 36930433 | 1570 | 1751 | 332 | 392 |
| 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 |
| ENST00000336648 | 6027 | 726 | 36930251 | 36930433 | 1468 | 1649 | 332 | 392 |
| ENST00000399120 | 6483 | 726 | 36930251 | 36930433 | 2228 | 2409 | 332 | 392 |
| ENST00000612277 | 6129 | 726 | 36930251 | 36930433 | 1570 | 1751 | 332 | 392 |
| 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 |
| P50747 | 332 | 392 | 1 | 726 | Chain | ID=PRO_0000064979;Note=Biotin--protein ligase |
| P50747 | 332 | 392 | 1 | 726 | Chain | ID=PRO_0000064979;Note=Biotin--protein ligase |
| P50747 | 332 | 392 | 1 | 726 | Chain | ID=PRO_0000064979;Note=Biotin--protein ligase |
| P50747 | 332 | 392 | 333 | 333 | Natural variant | ID=VAR_009196;Note=In HLCS deficiency%3B <10%25 activity%3B has normal or low KM values for biotin (non-KM mutant). V->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10190325,ECO:0000269|PubMed:10590022,ECO:0000269|PubMed: |
| P50747 | 332 | 392 | 333 | 333 | Natural variant | ID=VAR_009196;Note=In HLCS deficiency%3B <10%25 activity%3B has normal or low KM values for biotin (non-KM mutant). V->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10190325,ECO:0000269|PubMed:10590022,ECO:0000269|PubMed: |
| P50747 | 332 | 392 | 333 | 333 | Natural variant | ID=VAR_009196;Note=In HLCS deficiency%3B <10%25 activity%3B has normal or low KM values for biotin (non-KM mutant). V->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10190325,ECO:0000269|PubMed:10590022,ECO:0000269|PubMed: |
| P50747 | 332 | 392 | 360 | 360 | Natural variant | ID=VAR_046508;Note=In HLCS deficiency%3B 22%25 activity%3B shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11735028;Dbxref=PMID:11735028 |
| P50747 | 332 | 392 | 360 | 360 | Natural variant | ID=VAR_046508;Note=In HLCS deficiency%3B 22%25 activity%3B shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11735028;Dbxref=PMID:11735028 |
| P50747 | 332 | 392 | 360 | 360 | Natural variant | ID=VAR_046508;Note=In HLCS deficiency%3B 22%25 activity%3B shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11735028;Dbxref=PMID:11735028 |
| P50747 | 332 | 392 | 363 | 363 | Natural variant | ID=VAR_046509;Note=In HLCS deficiency%3B has normal or low KM values for biotin (non-KM mutant). V->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10590022,ECO:0000269|PubMed:8817339;Dbxref=dbSNP:rs769499327,PMID:10590022,PMID:8817339 |
| P50747 | 332 | 392 | 363 | 363 | Natural variant | ID=VAR_046509;Note=In HLCS deficiency%3B has normal or low KM values for biotin (non-KM mutant). V->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10590022,ECO:0000269|PubMed:8817339;Dbxref=dbSNP:rs769499327,PMID:10590022,PMID:8817339 |
| P50747 | 332 | 392 | 363 | 363 | Natural variant | ID=VAR_046509;Note=In HLCS deficiency%3B has normal or low KM values for biotin (non-KM mutant). V->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10590022,ECO:0000269|PubMed:8817339;Dbxref=dbSNP:rs769499327,PMID:10590022,PMID:8817339 |
| 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 |
| P50747 | 332 | 392 | 1 | 726 | Chain | ID=PRO_0000064979;Note=Biotin--protein ligase |
| P50747 | 332 | 392 | 1 | 726 | Chain | ID=PRO_0000064979;Note=Biotin--protein ligase |
| P50747 | 332 | 392 | 1 | 726 | Chain | ID=PRO_0000064979;Note=Biotin--protein ligase |
| P50747 | 332 | 392 | 333 | 333 | Natural variant | ID=VAR_009196;Note=In HLCS deficiency%3B <10%25 activity%3B has normal or low KM values for biotin (non-KM mutant). V->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10190325,ECO:0000269|PubMed:10590022,ECO:0000269|PubMed: |
| P50747 | 332 | 392 | 333 | 333 | Natural variant | ID=VAR_009196;Note=In HLCS deficiency%3B <10%25 activity%3B has normal or low KM values for biotin (non-KM mutant). V->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10190325,ECO:0000269|PubMed:10590022,ECO:0000269|PubMed: |
| P50747 | 332 | 392 | 333 | 333 | Natural variant | ID=VAR_009196;Note=In HLCS deficiency%3B <10%25 activity%3B has normal or low KM values for biotin (non-KM mutant). V->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10190325,ECO:0000269|PubMed:10590022,ECO:0000269|PubMed: |
| P50747 | 332 | 392 | 360 | 360 | Natural variant | ID=VAR_046508;Note=In HLCS deficiency%3B 22%25 activity%3B shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11735028;Dbxref=PMID:11735028 |
| P50747 | 332 | 392 | 360 | 360 | Natural variant | ID=VAR_046508;Note=In HLCS deficiency%3B 22%25 activity%3B shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11735028;Dbxref=PMID:11735028 |
| P50747 | 332 | 392 | 360 | 360 | Natural variant | ID=VAR_046508;Note=In HLCS deficiency%3B 22%25 activity%3B shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11735028;Dbxref=PMID:11735028 |
| P50747 | 332 | 392 | 363 | 363 | Natural variant | ID=VAR_046509;Note=In HLCS deficiency%3B has normal or low KM values for biotin (non-KM mutant). V->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10590022,ECO:0000269|PubMed:8817339;Dbxref=dbSNP:rs769499327,PMID:10590022,PMID:8817339 |
| P50747 | 332 | 392 | 363 | 363 | Natural variant | ID=VAR_046509;Note=In HLCS deficiency%3B has normal or low KM values for biotin (non-KM mutant). V->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10590022,ECO:0000269|PubMed:8817339;Dbxref=dbSNP:rs769499327,PMID:10590022,PMID:8817339 |
| P50747 | 332 | 392 | 363 | 363 | Natural variant | ID=VAR_046509;Note=In HLCS deficiency%3B has normal or low KM values for biotin (non-KM mutant). V->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10590022,ECO:0000269|PubMed:8817339;Dbxref=dbSNP:rs769499327,PMID:10590022,PMID:8817339 |
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3'-UTR located exon skipping events that lost miRNA binding sites in HLCS |
| 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 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-1976 | chr21:36948195-36948202 | 8mer-1a | chr21:36948195-36948216 | 153.00 | -21.09 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-552-3p | chr21:36948163-36948170 | 8mer-1a | chr21:36948155-36948178 | 157.00 | -33.04 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-186-3p | chr21:36948046-36948053 | 8mer-1a | chr21:36948045-36948066 | 152.00 | -20.99 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6077 | chr21:36947905-36947912 | 8mer-1a | chr21:36947895-36947912 | 140.00 | -23.78 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4753-3p | chr21:36947530-36947537 | 8mer-1a | chr21:36947519-36947540 | 160.00 | -21.03 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-607 | chr21:36947996-36948003 | 8mer-1a | chr21:36947983-36948010 | 158.00 | -19.30 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-130a-5p | chr21:36947529-36947536 | 8mer-1a | chr21:36947519-36947540 | 160.00 | -21.03 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6747-3p | chr21:36948193-36948200 | 8mer-1a | chr21:36948187-36948206 | 144.00 | -25.18 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-1291 | chr21:36948007-36948014 | 8mer-1a | chr21:36948003-36948025 | 151.00 | -25.27 |
| Mayo | ENST00000612277 | 36946009 | 36946154 | hsa-miR-6757-5p | chr21:36946130-36946137 | 8mer-1a | chr21:36946129-36946149 | 152.00 | -14.24 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-617 | chr21:36947539-36947546 | 8mer-1a | chr21:36947537-36947558 | 158.00 | -15.23 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6762-3p | chr21:36947624-36947631 | 8mer-1a | chr21:36947613-36947633 | 160.00 | -20.46 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-16-5p | chr21:36947875-36947882 | 8mer-1a | chr21:36947863-36947882 | 161.00 | -24.99 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-15a-5p | chr21:36947875-36947882 | 8mer-1a | chr21:36947863-36947882 | 161.00 | -24.99 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-5580-5p | chr21:36947627-36947634 | 8mer-1a | chr21:36947613-36947634 | 155.00 | -14.19 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-345-5p | chr21:36947860-36947867 | 8mer-1a | chr21:36947845-36947867 | 154.00 | -22.88 |
| Mayo | ENST00000612277 | 36946009 | 36946154 | hsa-miR-655-5p | chr21:36946109-36946116 | 8mer-1a | chr21:36946104-36946127 | 167.00 | -18.26 |
| Mayo | ENST00000612277 | 36946009 | 36946154 | hsa-miR-4509 | chr21:36946096-36946103 | 8mer-1a | chr21:36946084-36946105 | 151.00 | -14.64 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6882-3p | chr21:36947803-36947810 | 8mer-1a | chr21:36947795-36947815 | 159.00 | -22.49 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4313 | chr21:36947790-36947797 | 8mer-1a | chr21:36947787-36947807 | 167.00 | -30.29 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-5094 | chr21:36947436-36947443 | 8mer-1a | chr21:36947425-36947446 | 153.00 | -17.21 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6126 | chr21:36947389-36947396 | 8mer-1a | chr21:36947385-36947407 | 151.00 | -18.16 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6775-3p | chr21:36948007-36948014 | 8mer-1a | chr21:36948003-36948025 | 151.00 | -25.27 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-195-5p | chr21:36947875-36947882 | 8mer-1a | chr21:36947863-36947882 | 161.00 | -24.99 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-497-5p | chr21:36947875-36947882 | 8mer-1a | chr21:36947863-36947882 | 161.00 | -24.99 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4522 | chr21:36947858-36947865 | 8mer-1a | chr21:36947845-36947867 | 154.00 | -22.88 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4524b-5p | chr21:36947876-36947883 | 8mer-1a | chr21:36947859-36947883 | 154.00 | -19.66 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4524a-5p | chr21:36947876-36947883 | 8mer-1a | chr21:36947859-36947883 | 154.00 | -19.66 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-5011-3p | chr21:36947379-36947386 | 8mer-1a | chr21:36947365-36947388 | 155.00 | -17.70 |
| Mayo | ENST00000612277 | 36946009 | 36946154 | hsa-miR-7108-5p | chr21:36946058-36946065 | 8mer-1a | chr21:36946051-36946073 | 167.00 | -29.78 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6885-3p | chr21:36947546-36947553 | 8mer-1a | chr21:36947537-36947558 | 158.00 | -15.23 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6790-3p | chr21:36948073-36948080 | 8mer-1a | chr21:36948062-36948084 | 156.00 | -24.02 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-24-2-5p | chr21:36948216-36948223 | 8mer-1a | chr21:36948216-36948238 | 181.00 | -35.17 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-23a-5p | chr21:36948209-36948216 | 8mer-1a | chr21:36948201-36948226 | 154.00 | -25.06 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-5088-3p | chr21:36947534-36947541 | 8mer-1a | chr21:36947518-36947541 | 146.00 | -21.64 |
| Mayo | ENST00000612277 | 36946009 | 36946154 | hsa-miR-663b | chr21:36946057-36946064 | 8mer-1a | chr21:36946051-36946073 | 167.00 | -29.78 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6512-3p | chr21:36947973-36947980 | 8mer-1a | chr21:36947965-36947985 | 156.00 | -21.18 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-7845-5p | chr21:36947592-36947599 | 8mer-1a | chr21:36947579-36947599 | 160.00 | -24.22 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-103a-2-5p | chr21:36947730-36947737 | 8mer-1a | chr21:36947719-36947742 | 148.00 | -20.67 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4764-5p | chr21:36947723-36947730 | 8mer-1a | chr21:36947719-36947742 | 148.00 | -20.67 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4763-5p | chr21:36947800-36947807 | 8mer-1a | chr21:36947787-36947807 | 167.00 | -30.29 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-15b-5p | chr21:36947875-36947882 | 8mer-1a | chr21:36947863-36947882 | 161.00 | -24.99 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-887-5p | chr21:36947560-36947567 | 8mer-1a | chr21:36947544-36947567 | 142.00 | -14.16 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-2277-3p | chr21:36947430-36947437 | 8mer-1a | chr21:36947414-36947437 | 149.00 | -23.07 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-12130 | chr21:36947842-36947849 | 8mer-1a | chr21:36947842-36947861 | 150.00 | -29.78 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-103a-1-5p | chr21:36947730-36947737 | 8mer-1a | chr21:36947719-36947742 | 148.00 | -20.67 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4638-5p | chr21:36948236-36948243 | 8mer-1a | chr21:36948236-36948258 | 159.00 | -24.58 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6720-5p | chr21:36947973-36947980 | 8mer-1a | chr21:36947965-36947985 | 156.00 | -21.18 |
| Mayo | ENST00000612277 | 36946009 | 36946154 | hsa-miR-6832-3p | chr21:36946032-36946039 | 8mer-1a | chr21:36946020-36946041 | 155.00 | -21.39 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6721-5p | chr21:36947780-36947787 | 8mer-1a | chr21:36947763-36947787 | 155.00 | -28.34 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6838-5p | chr21:36947875-36947882 | 8mer-1a | chr21:36947863-36947882 | 161.00 | -24.99 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-3147 | chr21:36947783-36947790 | 8mer-1a | chr21:36947767-36947790 | 154.00 | -24.29 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-183-3p | chr21:36947921-36947928 | 8mer-1a | chr21:36947919-36947938 | 141.00 | -9.86 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-490-3p | chr21:36947756-36947763 | 8mer-1a | chr21:36947748-36947770 | 151.00 | -20.72 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4468 | chr21:36947705-36947712 | 8mer-1a | chr21:36947692-36947715 | 152.00 | -27.74 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4286 | chr21:36947822-36947829 | 8mer-1a | chr21:36947816-36947836 | 158.00 | -18.32 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6849-3p | chr21:36947972-36947979 | 8mer-1a | chr21:36947958-36947979 | 155.00 | -25.56 |
| Mayo | ENST00000612277 | 36946009 | 36946154 | hsa-miR-4473 | chr21:36946026-36946033 | 8mer-1a | chr21:36946012-36946033 | 165.00 | -19.02 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-23b-5p | chr21:36948209-36948216 | 8mer-1a | chr21:36948201-36948226 | 154.00 | -25.06 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-24-1-5p | chr21:36948216-36948223 | 8mer-1a | chr21:36948216-36948238 | 181.00 | -35.17 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6854-3p | chr21:36947978-36947985 | 8mer-1a | chr21:36947965-36947985 | 156.00 | -21.18 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-532-5p | chr21:36947692-36947699 | 8mer-1a | chr21:36947681-36947700 | 162.00 | -20.03 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-424-5p | chr21:36947875-36947882 | 8mer-1a | chr21:36947863-36947882 | 161.00 | -24.99 |
| Mayo | ENST00000399120 | 36947333 | 36948287 | hsa-miR-224-5p | chr21:36947661-36947668 | 8mer-1a | chr21:36947646-36947668 | 155.00 | -15.08 |
| MSBB | ENST00000612277 | 36946009 | 36946154 | hsa-miR-6757-5p | chr21:36946130-36946137 | 8mer-1a | chr21:36946129-36946149 | 152.00 | -14.24 |
| MSBB | ENST00000612277 | 36946009 | 36946154 | hsa-miR-655-5p | chr21:36946109-36946116 | 8mer-1a | chr21:36946104-36946127 | 167.00 | -18.26 |
| MSBB | ENST00000612277 | 36946009 | 36946154 | hsa-miR-4509 | chr21:36946096-36946103 | 8mer-1a | chr21:36946084-36946105 | 151.00 | -14.64 |
| MSBB | ENST00000612277 | 36946009 | 36946154 | hsa-miR-7108-5p | chr21:36946058-36946065 | 8mer-1a | chr21:36946051-36946073 | 167.00 | -29.78 |
| MSBB | ENST00000612277 | 36946009 | 36946154 | hsa-miR-663b | chr21:36946057-36946064 | 8mer-1a | chr21:36946051-36946073 | 167.00 | -29.78 |
| MSBB | ENST00000612277 | 36946009 | 36946154 | hsa-miR-6832-3p | chr21:36946032-36946039 | 8mer-1a | chr21:36946020-36946041 | 155.00 | -21.39 |
| MSBB | ENST00000612277 | 36946009 | 36946154 | hsa-miR-4473 | chr21:36946026-36946033 | 8mer-1a | chr21:36946012-36946033 | 165.00 | -19.02 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-1976 | chr21:36948195-36948202 | 8mer-1a | chr21:36948195-36948216 | 153.00 | -21.09 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-552-3p | chr21:36948163-36948170 | 8mer-1a | chr21:36948155-36948178 | 157.00 | -33.04 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-186-3p | chr21:36948046-36948053 | 8mer-1a | chr21:36948045-36948066 | 152.00 | -20.99 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6077 | chr21:36947905-36947912 | 8mer-1a | chr21:36947895-36947912 | 140.00 | -23.78 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4753-3p | chr21:36947530-36947537 | 8mer-1a | chr21:36947519-36947540 | 160.00 | -21.03 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-607 | chr21:36947996-36948003 | 8mer-1a | chr21:36947983-36948010 | 158.00 | -19.30 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-130a-5p | chr21:36947529-36947536 | 8mer-1a | chr21:36947519-36947540 | 160.00 | -21.03 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6747-3p | chr21:36948193-36948200 | 8mer-1a | chr21:36948187-36948206 | 144.00 | -25.18 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-1291 | chr21:36948007-36948014 | 8mer-1a | chr21:36948003-36948025 | 151.00 | -25.27 |
| ROSMAP | ENST00000612277 | 36946009 | 36946154 | hsa-miR-6757-5p | chr21:36946130-36946137 | 8mer-1a | chr21:36946129-36946149 | 152.00 | -14.24 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-617 | chr21:36947539-36947546 | 8mer-1a | chr21:36947537-36947558 | 158.00 | -15.23 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6762-3p | chr21:36947624-36947631 | 8mer-1a | chr21:36947613-36947633 | 160.00 | -20.46 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-16-5p | chr21:36947875-36947882 | 8mer-1a | chr21:36947863-36947882 | 161.00 | -24.99 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-15a-5p | chr21:36947875-36947882 | 8mer-1a | chr21:36947863-36947882 | 161.00 | -24.99 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-5580-5p | chr21:36947627-36947634 | 8mer-1a | chr21:36947613-36947634 | 155.00 | -14.19 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-345-5p | chr21:36947860-36947867 | 8mer-1a | chr21:36947845-36947867 | 154.00 | -22.88 |
| ROSMAP | ENST00000612277 | 36946009 | 36946154 | hsa-miR-655-5p | chr21:36946109-36946116 | 8mer-1a | chr21:36946104-36946127 | 167.00 | -18.26 |
| ROSMAP | ENST00000612277 | 36946009 | 36946154 | hsa-miR-4509 | chr21:36946096-36946103 | 8mer-1a | chr21:36946084-36946105 | 151.00 | -14.64 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6882-3p | chr21:36947803-36947810 | 8mer-1a | chr21:36947795-36947815 | 159.00 | -22.49 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4313 | chr21:36947790-36947797 | 8mer-1a | chr21:36947787-36947807 | 167.00 | -30.29 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-5094 | chr21:36947436-36947443 | 8mer-1a | chr21:36947425-36947446 | 153.00 | -17.21 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6126 | chr21:36947389-36947396 | 8mer-1a | chr21:36947385-36947407 | 151.00 | -18.16 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6775-3p | chr21:36948007-36948014 | 8mer-1a | chr21:36948003-36948025 | 151.00 | -25.27 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-195-5p | chr21:36947875-36947882 | 8mer-1a | chr21:36947863-36947882 | 161.00 | -24.99 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-497-5p | chr21:36947875-36947882 | 8mer-1a | chr21:36947863-36947882 | 161.00 | -24.99 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4522 | chr21:36947858-36947865 | 8mer-1a | chr21:36947845-36947867 | 154.00 | -22.88 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4524b-5p | chr21:36947876-36947883 | 8mer-1a | chr21:36947859-36947883 | 154.00 | -19.66 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4524a-5p | chr21:36947876-36947883 | 8mer-1a | chr21:36947859-36947883 | 154.00 | -19.66 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-5011-3p | chr21:36947379-36947386 | 8mer-1a | chr21:36947365-36947388 | 155.00 | -17.70 |
| ROSMAP | ENST00000612277 | 36946009 | 36946154 | hsa-miR-7108-5p | chr21:36946058-36946065 | 8mer-1a | chr21:36946051-36946073 | 167.00 | -29.78 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6885-3p | chr21:36947546-36947553 | 8mer-1a | chr21:36947537-36947558 | 158.00 | -15.23 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6790-3p | chr21:36948073-36948080 | 8mer-1a | chr21:36948062-36948084 | 156.00 | -24.02 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-24-2-5p | chr21:36948216-36948223 | 8mer-1a | chr21:36948216-36948238 | 181.00 | -35.17 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-23a-5p | chr21:36948209-36948216 | 8mer-1a | chr21:36948201-36948226 | 154.00 | -25.06 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-5088-3p | chr21:36947534-36947541 | 8mer-1a | chr21:36947518-36947541 | 146.00 | -21.64 |
| ROSMAP | ENST00000612277 | 36946009 | 36946154 | hsa-miR-663b | chr21:36946057-36946064 | 8mer-1a | chr21:36946051-36946073 | 167.00 | -29.78 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6512-3p | chr21:36947973-36947980 | 8mer-1a | chr21:36947965-36947985 | 156.00 | -21.18 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-7845-5p | chr21:36947592-36947599 | 8mer-1a | chr21:36947579-36947599 | 160.00 | -24.22 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-103a-2-5p | chr21:36947730-36947737 | 8mer-1a | chr21:36947719-36947742 | 148.00 | -20.67 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4764-5p | chr21:36947723-36947730 | 8mer-1a | chr21:36947719-36947742 | 148.00 | -20.67 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4763-5p | chr21:36947800-36947807 | 8mer-1a | chr21:36947787-36947807 | 167.00 | -30.29 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-15b-5p | chr21:36947875-36947882 | 8mer-1a | chr21:36947863-36947882 | 161.00 | -24.99 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-887-5p | chr21:36947560-36947567 | 8mer-1a | chr21:36947544-36947567 | 142.00 | -14.16 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-2277-3p | chr21:36947430-36947437 | 8mer-1a | chr21:36947414-36947437 | 149.00 | -23.07 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-12130 | chr21:36947842-36947849 | 8mer-1a | chr21:36947842-36947861 | 150.00 | -29.78 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-103a-1-5p | chr21:36947730-36947737 | 8mer-1a | chr21:36947719-36947742 | 148.00 | -20.67 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4638-5p | chr21:36948236-36948243 | 8mer-1a | chr21:36948236-36948258 | 159.00 | -24.58 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6720-5p | chr21:36947973-36947980 | 8mer-1a | chr21:36947965-36947985 | 156.00 | -21.18 |
| ROSMAP | ENST00000612277 | 36946009 | 36946154 | hsa-miR-6832-3p | chr21:36946032-36946039 | 8mer-1a | chr21:36946020-36946041 | 155.00 | -21.39 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6721-5p | chr21:36947780-36947787 | 8mer-1a | chr21:36947763-36947787 | 155.00 | -28.34 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6838-5p | chr21:36947875-36947882 | 8mer-1a | chr21:36947863-36947882 | 161.00 | -24.99 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-3147 | chr21:36947783-36947790 | 8mer-1a | chr21:36947767-36947790 | 154.00 | -24.29 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-183-3p | chr21:36947921-36947928 | 8mer-1a | chr21:36947919-36947938 | 141.00 | -9.86 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-490-3p | chr21:36947756-36947763 | 8mer-1a | chr21:36947748-36947770 | 151.00 | -20.72 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4468 | chr21:36947705-36947712 | 8mer-1a | chr21:36947692-36947715 | 152.00 | -27.74 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-4286 | chr21:36947822-36947829 | 8mer-1a | chr21:36947816-36947836 | 158.00 | -18.32 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6849-3p | chr21:36947972-36947979 | 8mer-1a | chr21:36947958-36947979 | 155.00 | -25.56 |
| ROSMAP | ENST00000612277 | 36946009 | 36946154 | hsa-miR-4473 | chr21:36946026-36946033 | 8mer-1a | chr21:36946012-36946033 | 165.00 | -19.02 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-23b-5p | chr21:36948209-36948216 | 8mer-1a | chr21:36948201-36948226 | 154.00 | -25.06 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-24-1-5p | chr21:36948216-36948223 | 8mer-1a | chr21:36948216-36948238 | 181.00 | -35.17 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-6854-3p | chr21:36947978-36947985 | 8mer-1a | chr21:36947965-36947985 | 156.00 | -21.18 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-532-5p | chr21:36947692-36947699 | 8mer-1a | chr21:36947681-36947700 | 162.00 | -20.03 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-424-5p | chr21:36947875-36947882 | 8mer-1a | chr21:36947863-36947882 | 161.00 | -24.99 |
| ROSMAP | ENST00000399120 | 36947333 | 36948287 | hsa-miR-224-5p | chr21:36947661-36947668 | 8mer-1a | chr21:36947646-36947668 | 155.00 | -15.08 |
Top |
SNVs in the skipped exons for HLCS |
| - 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 |
Top |
AD stage-associated exon skippint events for HLCS |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HLCS |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for HLCS |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM4B | exon_skip_6714 | -4.012092e-01 | 3.227003e-06 |
| CB | HNRNPA2B1 | exon_skip_44272 | 4.115846e-01 | 9.445258e-07 |
Top |
RelatedDrugs for HLCS |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P50747 | approved|investigational|nutraceutical | DB00121 | Biotin | small molecule | P50747 |
Top |
RelatedDiseases for HLCS |
| 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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