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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 GJB6 |
 Gene summary |
| Gene information | Gene symbol | GJB6 | Gene ID | 10804 |
| Gene name | gap junction protein beta 6 | |
| Synonyms | CX30|DFNA3|DFNA3B|DFNB1B|ECTD2|ED2|EDH|HED|HED2 | |
| Cytomap | 13q12.11 | |
| Type of gene | protein-coding | |
| Description | gap junction beta-6 proteinconnexin 30ectodermal dysplasia 2, hidrotic (Clouston syndrome)gap junction protein, beta 6, 30kDa | |
| Modification date | 20200328 | |
| 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 |
| GJB6 | GO:0055085 | transmembrane transport | 12767933 |
| GJB6 | GO:1990349 | gap junction-mediated intercellular transport | 12767933 |
Top |
Gene structures and expression levels for GJB6 |
| 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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ENSG00000121742
| 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 | ENST00000644283.1 | GJB6-209:protein_coding:GJB6 | 2.651192e+02 | 1.106084e+00 | 3.290537e-05 | 6.640744e-04 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for GJB6 |
| 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_105403 | chr13 | 20229580:20229749:20230866:20231061:20231382:20231505 | 20230866:20231061 |
| exon_skip_108152 | chr13 | 20229580:20229749:20230866:20231061:20231382:20231409 | 20230866:20231061 |
| exon_skip_126829 | chr13 | 20229580:20229749:20230698:20230807:20230915:20230978 | 20230698:20230807 |
| exon_skip_137713 | chr13 | 20229580:20229749:20230742:20230813:20231382:20231409 | 20230742:20230813 |
| exon_skip_186421 | chr13 | 20229580:20229749:20231382:20231492:20232194:20232340 | 20231382:20231492 |
| exon_skip_19918 | chr13 | 20229580:20229749:20231382:20231492:20232194:20232303 | 20231382:20231492 |
| exon_skip_222705 | chr13 | 20223345:20223495:20229580:20229770:20230866:20230978 | 20229580:20229770 |
| exon_skip_235833 | chr13 | 20230698:20230807:20231382:20231505:20232194:20232303 | 20231382:20231505 |
| exon_skip_237286 | chr13 | 20229580:20229749:20231382:20231505:20232194:20232303 | 20231382:20231505 |
| exon_skip_243640 | chr13 | 20229580:20229749:20230698:20230807:20231382:20231409 | 20230698:20230807 |
| exon_skip_24497 | chr13 | 20223345:20223495:20229580:20229749:20232194:20232303 | 20229580:20229749 |
| exon_skip_276248 | chr13 | 20229580:20229749:20230698:20230813:20231382:20231409 | 20230698:20230813 |
| exon_skip_70712 | chr13 | 20223345:20223495:20229580:20229749:20230866:20230978 | 20229580:20229749 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_237286 | ROSMAP_HCC | 7.014201e-01 | 5.921591e-01 | 1.092610e-01 | 1.973333e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for GJB6 |
| 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 |
| ENST00000643121 | 20229580 | 20229749 | 3UTR-3UTR |
| ENST00000643211 | 20230698 | 20230813 | 3UTR-3UTR |
| ENST00000644667 | 20230698 | 20230807 | 3UTR-3UTR |
| ENST00000647029 | 20230698 | 20230807 | 3UTR-3UTR |
| ENST00000647243 | 20230698 | 20230807 | 3UTR-3UTR |
| ENST00000643121 | 20230866 | 20231061 | 3UTR-3UTR |
| ENST00000400066 | 20231382 | 20231492 | 3UTR-3UTR |
| ENST00000644283 | 20231382 | 20231505 | 3UTR-3UTR |
| ENST00000647029 | 20231382 | 20231505 | 3UTR-3UTR |
| 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 |
| ENST00000643211 | 20230698 | 20230813 | 3UTR-3UTR |
| ENST00000647029 | 20230698 | 20230807 | 3UTR-3UTR |
| ENST00000647243 | 20230698 | 20230807 | 3UTR-3UTR |
| ENST00000643121 | 20230866 | 20231061 | 3UTR-3UTR |
| ENST00000400066 | 20231382 | 20231492 | 3UTR-3UTR |
| ENST00000644283 | 20231382 | 20231505 | 3UTR-3UTR |
| 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 |
| ENST00000400065 | 20229580 | 20229749 | 3UTR-3UTR |
| ENST00000643211 | 20230698 | 20230813 | 3UTR-3UTR |
| ENST00000644667 | 20230698 | 20230807 | 3UTR-3UTR |
| ENST00000647029 | 20230698 | 20230807 | 3UTR-3UTR |
| ENST00000647243 | 20230698 | 20230807 | 3UTR-3UTR |
| ENST00000643121 | 20230866 | 20231061 | 3UTR-3UTR |
| ENST00000400066 | 20231382 | 20231492 | 3UTR-3UTR |
| ENST00000644283 | 20231382 | 20231505 | 3UTR-3UTR |
| ENST00000647029 | 20231382 | 20231505 | 3UTR-3UTR |
Top |
Infer the effects of exon skipping event on protein functional features for GJB6 |
p-ENSG00000121742_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 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in GJB6 |
| 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 | ENST00000643121 | 20230866 | 20231061 | hsa-miR-4252 | chr13:20230941-20230948 | 8mer-1a | chr13:20230938-20230960 | 161.00 | -26.02 |
| Mayo | ENST00000643211 | 20230698 | 20230813 | hsa-miR-4794 | chr13:20230778-20230785 | 8mer-1a | chr13:20230764-20230785 | 150.00 | -17.45 |
| Mayo | ENST00000647243 | 20230698 | 20230807 | hsa-miR-4794 | chr13:20230778-20230785 | 8mer-1a | chr13:20230764-20230785 | 150.00 | -17.45 |
| Mayo | ENST00000643121 | 20230866 | 20231061 | hsa-miR-320b | chr13:20230926-20230933 | 8mer-1a | chr13:20230920-20230941 | 167.00 | -25.27 |
| Mayo | ENST00000643211 | 20230698 | 20230813 | hsa-miR-664a-5p | chr13:20230778-20230785 | 8mer-1a | chr13:20230764-20230785 | 150.00 | -17.45 |
| Mayo | ENST00000647243 | 20230698 | 20230807 | hsa-miR-664a-5p | chr13:20230778-20230785 | 8mer-1a | chr13:20230764-20230785 | 150.00 | -17.45 |
| Mayo | ENST00000400066 | 20231382 | 20231492 | hsa-miR-1343-3p | chr13:20231399-20231406 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| Mayo | ENST00000647029 | 20231382 | 20231505 | hsa-miR-1343-3p | chr13:20231399-20231406 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| Mayo | ENST00000643121 | 20230866 | 20231061 | hsa-miR-6752-5p | chr13:20230964-20230971 | 8mer-1a | chr13:20230951-20230971 | 173.00 | -35.52 |
| Mayo | ENST00000643121 | 20230866 | 20231061 | hsa-miR-320d | chr13:20230926-20230933 | 8mer-1a | chr13:20230920-20230941 | 167.00 | -25.27 |
| Mayo | ENST00000400066 | 20231382 | 20231492 | hsa-miR-19a-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| Mayo | ENST00000647029 | 20231382 | 20231505 | hsa-miR-19a-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| Mayo | ENST00000400066 | 20231382 | 20231492 | hsa-miR-19b-1-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| Mayo | ENST00000647029 | 20231382 | 20231505 | hsa-miR-19b-1-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| Mayo | ENST00000643121 | 20230866 | 20231061 | hsa-miR-127-5p | chr13:20231033-20231040 | 8mer-1a | chr13:20231025-20231052 | 150.00 | -32.34 |
| Mayo | ENST00000400065 | 20229580 | 20229749 | hsa-miR-6506-3p | chr13:20229708-20229715 | 8mer-1a | chr13:20229694-20229715 | 140.00 | -14.22 |
| Mayo | ENST00000400066 | 20231382 | 20231492 | hsa-miR-6783-3p | chr13:20231399-20231406 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| Mayo | ENST00000647029 | 20231382 | 20231505 | hsa-miR-6783-3p | chr13:20231399-20231406 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| Mayo | ENST00000400066 | 20231382 | 20231492 | hsa-miR-3185 | chr13:20231461-20231468 | 8mer-1a | chr13:20231449-20231468 | 153.00 | -23.70 |
| Mayo | ENST00000647029 | 20231382 | 20231505 | hsa-miR-3185 | chr13:20231461-20231468 | 8mer-1a | chr13:20231449-20231468 | 153.00 | -23.70 |
| Mayo | ENST00000643121 | 20230866 | 20231061 | hsa-miR-4317 | chr13:20230945-20230952 | 8mer-1a | chr13:20230938-20230960 | 161.00 | -26.02 |
| Mayo | ENST00000643121 | 20230866 | 20231061 | hsa-miR-320c | chr13:20230926-20230933 | 8mer-1a | chr13:20230920-20230941 | 167.00 | -25.27 |
| Mayo | ENST00000643121 | 20230866 | 20231061 | hsa-miR-4429 | chr13:20230926-20230933 | 8mer-1a | chr13:20230920-20230941 | 167.00 | -25.27 |
| Mayo | ENST00000643211 | 20230698 | 20230813 | hsa-miR-1258 | chr13:20230806-20230813 | 8mer-1a | chr13:20230795-20230813 | 142.00 | -13.24 |
| Mayo | ENST00000643121 | 20230866 | 20231061 | hsa-miR-4758-3p | chr13:20230896-20230903 | 8mer-1a | chr13:20230892-20230915 | 143.00 | -34.41 |
| Mayo | ENST00000400065 | 20229580 | 20229749 | hsa-miR-6815-3p | chr13:20229686-20229693 | 8mer-1a | chr13:20229679-20229701 | 166.00 | -27.15 |
| Mayo | ENST00000643121 | 20230866 | 20231061 | hsa-miR-7110-5p | chr13:20230964-20230971 | 8mer-1a | chr13:20230951-20230971 | 173.00 | -35.52 |
| Mayo | ENST00000643121 | 20230866 | 20231061 | hsa-miR-320a-3p | chr13:20230926-20230933 | 8mer-1a | chr13:20230920-20230941 | 167.00 | -25.27 |
| Mayo | ENST00000643211 | 20230698 | 20230813 | hsa-miR-6876-5p | chr13:20230803-20230810 | 8mer-1a | chr13:20230791-20230810 | 159.00 | -18.90 |
| Mayo | ENST00000643121 | 20230866 | 20231061 | hsa-miR-6842-5p | chr13:20230964-20230971 | 8mer-1a | chr13:20230951-20230971 | 173.00 | -35.52 |
| Mayo | ENST00000400066 | 20231382 | 20231492 | hsa-miR-6852-5p | chr13:20231398-20231405 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| Mayo | ENST00000647029 | 20231382 | 20231505 | hsa-miR-6852-5p | chr13:20231398-20231405 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| Mayo | ENST00000643211 | 20230698 | 20230813 | hsa-miR-4476 | chr13:20230803-20230810 | 8mer-1a | chr13:20230791-20230810 | 159.00 | -18.90 |
| Mayo | ENST00000400066 | 20231382 | 20231492 | hsa-miR-19b-2-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| Mayo | ENST00000647029 | 20231382 | 20231505 | hsa-miR-19b-2-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| Mayo | ENST00000400066 | 20231382 | 20231492 | hsa-miR-450b-5p | chr13:20231423-20231430 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| Mayo | ENST00000647029 | 20231382 | 20231505 | hsa-miR-450b-5p | chr13:20231423-20231430 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| Mayo | ENST00000647029 | 20231382 | 20231505 | hsa-miR-424-3p | chr13:20231497-20231504 | 8mer-1a | chr13:20231483-20231504 | 164.00 | -21.37 |
| Mayo | ENST00000400065 | 20229580 | 20229749 | hsa-miR-767-5p | chr13:20229694-20229701 | 8mer-1a | chr13:20229679-20229701 | 166.00 | -27.15 |
| MSBB | ENST00000643121 | 20230866 | 20231061 | hsa-miR-4252 | chr13:20230941-20230948 | 8mer-1a | chr13:20230938-20230960 | 161.00 | -26.02 |
| MSBB | ENST00000643211 | 20230698 | 20230813 | hsa-miR-4794 | chr13:20230778-20230785 | 8mer-1a | chr13:20230764-20230785 | 150.00 | -17.45 |
| MSBB | ENST00000647243 | 20230698 | 20230807 | hsa-miR-4794 | chr13:20230778-20230785 | 8mer-1a | chr13:20230764-20230785 | 150.00 | -17.45 |
| MSBB | ENST00000643121 | 20230866 | 20231061 | hsa-miR-320b | chr13:20230926-20230933 | 8mer-1a | chr13:20230920-20230941 | 167.00 | -25.27 |
| MSBB | ENST00000643211 | 20230698 | 20230813 | hsa-miR-664a-5p | chr13:20230778-20230785 | 8mer-1a | chr13:20230764-20230785 | 150.00 | -17.45 |
| MSBB | ENST00000647243 | 20230698 | 20230807 | hsa-miR-664a-5p | chr13:20230778-20230785 | 8mer-1a | chr13:20230764-20230785 | 150.00 | -17.45 |
| MSBB | ENST00000400066 | 20231382 | 20231492 | hsa-miR-1343-3p | chr13:20231399-20231406 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| MSBB | ENST00000644283 | 20231382 | 20231505 | hsa-miR-1343-3p | chr13:20231399-20231406 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| MSBB | ENST00000643121 | 20230866 | 20231061 | hsa-miR-6752-5p | chr13:20230964-20230971 | 8mer-1a | chr13:20230951-20230971 | 173.00 | -35.52 |
| MSBB | ENST00000643121 | 20230866 | 20231061 | hsa-miR-320d | chr13:20230926-20230933 | 8mer-1a | chr13:20230920-20230941 | 167.00 | -25.27 |
| MSBB | ENST00000400066 | 20231382 | 20231492 | hsa-miR-19a-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| MSBB | ENST00000644283 | 20231382 | 20231505 | hsa-miR-19a-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| MSBB | ENST00000400066 | 20231382 | 20231492 | hsa-miR-19b-1-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| MSBB | ENST00000644283 | 20231382 | 20231505 | hsa-miR-19b-1-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| MSBB | ENST00000643121 | 20230866 | 20231061 | hsa-miR-127-5p | chr13:20231033-20231040 | 8mer-1a | chr13:20231025-20231052 | 150.00 | -32.34 |
| MSBB | ENST00000400066 | 20231382 | 20231492 | hsa-miR-6783-3p | chr13:20231399-20231406 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| MSBB | ENST00000644283 | 20231382 | 20231505 | hsa-miR-6783-3p | chr13:20231399-20231406 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| MSBB | ENST00000400066 | 20231382 | 20231492 | hsa-miR-3185 | chr13:20231461-20231468 | 8mer-1a | chr13:20231449-20231468 | 153.00 | -23.70 |
| MSBB | ENST00000644283 | 20231382 | 20231505 | hsa-miR-3185 | chr13:20231461-20231468 | 8mer-1a | chr13:20231449-20231468 | 153.00 | -23.70 |
| MSBB | ENST00000643121 | 20230866 | 20231061 | hsa-miR-4317 | chr13:20230945-20230952 | 8mer-1a | chr13:20230938-20230960 | 161.00 | -26.02 |
| MSBB | ENST00000643121 | 20230866 | 20231061 | hsa-miR-320c | chr13:20230926-20230933 | 8mer-1a | chr13:20230920-20230941 | 167.00 | -25.27 |
| MSBB | ENST00000643121 | 20230866 | 20231061 | hsa-miR-4429 | chr13:20230926-20230933 | 8mer-1a | chr13:20230920-20230941 | 167.00 | -25.27 |
| MSBB | ENST00000643211 | 20230698 | 20230813 | hsa-miR-1258 | chr13:20230806-20230813 | 8mer-1a | chr13:20230795-20230813 | 142.00 | -13.24 |
| MSBB | ENST00000643121 | 20230866 | 20231061 | hsa-miR-4758-3p | chr13:20230896-20230903 | 8mer-1a | chr13:20230892-20230915 | 143.00 | -34.41 |
| MSBB | ENST00000643121 | 20230866 | 20231061 | hsa-miR-7110-5p | chr13:20230964-20230971 | 8mer-1a | chr13:20230951-20230971 | 173.00 | -35.52 |
| MSBB | ENST00000643121 | 20230866 | 20231061 | hsa-miR-320a-3p | chr13:20230926-20230933 | 8mer-1a | chr13:20230920-20230941 | 167.00 | -25.27 |
| MSBB | ENST00000643211 | 20230698 | 20230813 | hsa-miR-6876-5p | chr13:20230803-20230810 | 8mer-1a | chr13:20230791-20230810 | 159.00 | -18.90 |
| MSBB | ENST00000643121 | 20230866 | 20231061 | hsa-miR-6842-5p | chr13:20230964-20230971 | 8mer-1a | chr13:20230951-20230971 | 173.00 | -35.52 |
| MSBB | ENST00000400066 | 20231382 | 20231492 | hsa-miR-6852-5p | chr13:20231398-20231405 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| MSBB | ENST00000644283 | 20231382 | 20231505 | hsa-miR-6852-5p | chr13:20231398-20231405 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| MSBB | ENST00000643211 | 20230698 | 20230813 | hsa-miR-4476 | chr13:20230803-20230810 | 8mer-1a | chr13:20230791-20230810 | 159.00 | -18.90 |
| MSBB | ENST00000400066 | 20231382 | 20231492 | hsa-miR-19b-2-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| MSBB | ENST00000644283 | 20231382 | 20231505 | hsa-miR-19b-2-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| MSBB | ENST00000400066 | 20231382 | 20231492 | hsa-miR-450b-5p | chr13:20231423-20231430 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| MSBB | ENST00000644283 | 20231382 | 20231505 | hsa-miR-450b-5p | chr13:20231423-20231430 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| MSBB | ENST00000644283 | 20231382 | 20231505 | hsa-miR-424-3p | chr13:20231497-20231504 | 8mer-1a | chr13:20231483-20231504 | 164.00 | -21.37 |
| ROSMAP | ENST00000643121 | 20230866 | 20231061 | hsa-miR-4252 | chr13:20230941-20230948 | 8mer-1a | chr13:20230938-20230960 | 161.00 | -26.02 |
| ROSMAP | ENST00000643211 | 20230698 | 20230813 | hsa-miR-4794 | chr13:20230778-20230785 | 8mer-1a | chr13:20230764-20230785 | 150.00 | -17.45 |
| ROSMAP | ENST00000647243 | 20230698 | 20230807 | hsa-miR-4794 | chr13:20230778-20230785 | 8mer-1a | chr13:20230764-20230785 | 150.00 | -17.45 |
| ROSMAP | ENST00000643121 | 20230866 | 20231061 | hsa-miR-320b | chr13:20230926-20230933 | 8mer-1a | chr13:20230920-20230941 | 167.00 | -25.27 |
| ROSMAP | ENST00000643211 | 20230698 | 20230813 | hsa-miR-664a-5p | chr13:20230778-20230785 | 8mer-1a | chr13:20230764-20230785 | 150.00 | -17.45 |
| ROSMAP | ENST00000647243 | 20230698 | 20230807 | hsa-miR-664a-5p | chr13:20230778-20230785 | 8mer-1a | chr13:20230764-20230785 | 150.00 | -17.45 |
| ROSMAP | ENST00000400066 | 20231382 | 20231492 | hsa-miR-1343-3p | chr13:20231399-20231406 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| ROSMAP | ENST00000647029 | 20231382 | 20231505 | hsa-miR-1343-3p | chr13:20231399-20231406 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| ROSMAP | ENST00000643121 | 20230866 | 20231061 | hsa-miR-6752-5p | chr13:20230964-20230971 | 8mer-1a | chr13:20230951-20230971 | 173.00 | -35.52 |
| ROSMAP | ENST00000643121 | 20230866 | 20231061 | hsa-miR-320d | chr13:20230926-20230933 | 8mer-1a | chr13:20230920-20230941 | 167.00 | -25.27 |
| ROSMAP | ENST00000400066 | 20231382 | 20231492 | hsa-miR-19a-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| ROSMAP | ENST00000647029 | 20231382 | 20231505 | hsa-miR-19a-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| ROSMAP | ENST00000400066 | 20231382 | 20231492 | hsa-miR-19b-1-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| ROSMAP | ENST00000647029 | 20231382 | 20231505 | hsa-miR-19b-1-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| ROSMAP | ENST00000643121 | 20230866 | 20231061 | hsa-miR-127-5p | chr13:20231033-20231040 | 8mer-1a | chr13:20231025-20231052 | 150.00 | -32.34 |
| ROSMAP | ENST00000643121 | 20229580 | 20229749 | hsa-miR-6506-3p | chr13:20229708-20229715 | 8mer-1a | chr13:20229694-20229715 | 140.00 | -14.22 |
| ROSMAP | ENST00000400066 | 20231382 | 20231492 | hsa-miR-6783-3p | chr13:20231399-20231406 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| ROSMAP | ENST00000647029 | 20231382 | 20231505 | hsa-miR-6783-3p | chr13:20231399-20231406 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| ROSMAP | ENST00000400066 | 20231382 | 20231492 | hsa-miR-3185 | chr13:20231461-20231468 | 8mer-1a | chr13:20231449-20231468 | 153.00 | -23.70 |
| ROSMAP | ENST00000647029 | 20231382 | 20231505 | hsa-miR-3185 | chr13:20231461-20231468 | 8mer-1a | chr13:20231449-20231468 | 153.00 | -23.70 |
| ROSMAP | ENST00000643121 | 20230866 | 20231061 | hsa-miR-4317 | chr13:20230945-20230952 | 8mer-1a | chr13:20230938-20230960 | 161.00 | -26.02 |
| ROSMAP | ENST00000643121 | 20230866 | 20231061 | hsa-miR-320c | chr13:20230926-20230933 | 8mer-1a | chr13:20230920-20230941 | 167.00 | -25.27 |
| ROSMAP | ENST00000643121 | 20230866 | 20231061 | hsa-miR-4429 | chr13:20230926-20230933 | 8mer-1a | chr13:20230920-20230941 | 167.00 | -25.27 |
| ROSMAP | ENST00000643211 | 20230698 | 20230813 | hsa-miR-1258 | chr13:20230806-20230813 | 8mer-1a | chr13:20230795-20230813 | 142.00 | -13.24 |
| ROSMAP | ENST00000643121 | 20230866 | 20231061 | hsa-miR-4758-3p | chr13:20230896-20230903 | 8mer-1a | chr13:20230892-20230915 | 143.00 | -34.41 |
| ROSMAP | ENST00000643121 | 20229580 | 20229749 | hsa-miR-6815-3p | chr13:20229686-20229693 | 8mer-1a | chr13:20229679-20229701 | 166.00 | -27.15 |
| ROSMAP | ENST00000643121 | 20230866 | 20231061 | hsa-miR-7110-5p | chr13:20230964-20230971 | 8mer-1a | chr13:20230951-20230971 | 173.00 | -35.52 |
| ROSMAP | ENST00000643121 | 20230866 | 20231061 | hsa-miR-320a-3p | chr13:20230926-20230933 | 8mer-1a | chr13:20230920-20230941 | 167.00 | -25.27 |
| ROSMAP | ENST00000643211 | 20230698 | 20230813 | hsa-miR-6876-5p | chr13:20230803-20230810 | 8mer-1a | chr13:20230791-20230810 | 159.00 | -18.90 |
| ROSMAP | ENST00000643121 | 20230866 | 20231061 | hsa-miR-6842-5p | chr13:20230964-20230971 | 8mer-1a | chr13:20230951-20230971 | 173.00 | -35.52 |
| ROSMAP | ENST00000400066 | 20231382 | 20231492 | hsa-miR-6852-5p | chr13:20231398-20231405 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| ROSMAP | ENST00000647029 | 20231382 | 20231505 | hsa-miR-6852-5p | chr13:20231398-20231405 | 8mer-1a | chr13:20231398-20231421 | 175.00 | -35.60 |
| ROSMAP | ENST00000643211 | 20230698 | 20230813 | hsa-miR-4476 | chr13:20230803-20230810 | 8mer-1a | chr13:20230791-20230810 | 159.00 | -18.90 |
| ROSMAP | ENST00000400066 | 20231382 | 20231492 | hsa-miR-19b-2-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| ROSMAP | ENST00000647029 | 20231382 | 20231505 | hsa-miR-19b-2-5p | chr13:20231425-20231432 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| ROSMAP | ENST00000400066 | 20231382 | 20231492 | hsa-miR-450b-5p | chr13:20231423-20231430 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| ROSMAP | ENST00000647029 | 20231382 | 20231505 | hsa-miR-450b-5p | chr13:20231423-20231430 | 8mer-1a | chr13:20231405-20231432 | 151.00 | -16.36 |
| ROSMAP | ENST00000647029 | 20231382 | 20231505 | hsa-miR-424-3p | chr13:20231497-20231504 | 8mer-1a | chr13:20231483-20231504 | 164.00 | -21.37 |
| ROSMAP | ENST00000643121 | 20229580 | 20229749 | hsa-miR-767-5p | chr13:20229694-20229701 | 8mer-1a | chr13:20229679-20229701 | 166.00 | -27.15 |
Top |
SNVs in the skipped exons for GJB6 |
| - 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 GJB6 |
| 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 GJB6 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_237286 | rs12866227 | chr13:20236598 | 7.152584e-04 | 4.500186e-02 |
Top |
Correlation with RNA binding proteins (RBPs) for GJB6 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| DLPFC | RBM3 | exon_skip_243640 | 4.007565e-01 | 5.910361e-12 |
| HCC | RBM3 | exon_skip_243640 | 4.889967e-01 | 1.127768e-16 |
| PCC | RBM3 | exon_skip_243640 | 6.088451e-01 | 1.801699e-21 |
| PCC | SRSF4 | exon_skip_237286 | 4.318972e-01 | 1.897112e-10 |
| PCC | HNRNPF | exon_skip_237286 | 4.030233e-01 | 3.596726e-09 |
| PCC | ZC3H10 | exon_skip_237286 | 4.006532e-01 | 4.523808e-09 |
| TC | RBM3 | exon_skip_243640 | 6.544633e-01 | 3.167173e-18 |
| TC | HNRNPDL | exon_skip_243640 | 4.370586e-01 | 8.339678e-08 |
| TC | HNRNPD | exon_skip_243640 | 4.282169e-01 | 1.612109e-07 |
| TC | NOVA1 | exon_skip_243640 | 4.022119e-01 | 1.007951e-06 |
| TC | RBM3 | exon_skip_276248 | 4.285576e-01 | 4.993705e-07 |
Top |
RelatedDrugs for GJB6 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for GJB6 |
| 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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