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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 CBWD5 |
 Gene summary |
| Gene information | Gene symbol | CBWD5 | Gene ID | 220869 |
| Gene name | COBW domain containing 5 | |
| Synonyms | CBWD3|DC36 | |
| Cytomap | 9q21.11 | |
| Type of gene | protein-coding | |
| Description | COBW domain-containing protein 5COBW domain-containing protein 3COBW-like placental proteinCobalamin synthase W domain-containing protein 3cobalamin synthase W domain-containing protein 5cobalamin synthetase W domain-containing protein 5dopamine res | |
| 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 |
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Gene structures and expression levels for CBWD5 |
| 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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ENSG00000147996
| 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 |
| STG | UP | ENST00000497250.5 | CBWD5-233:nonsense_mediated_decay:CBWD5 | 1.048358e+01 | 6.545175e+00 | 1.459068e-03 | 4.664273e-02 |
| CB | DOWN | ENST00000441808.5 | CBWD5-210:lncRNA:CBWD5 | 5.690622e+01 | -9.239206e-01 | 1.887818e-13 | 3.777281e-11 |
| CB | DOWN | ENST00000480819.6 | CBWD5-224:retained_intron:CBWD5 | 3.866823e+01 | -1.943206e+00 | 6.971473e-09 | 2.224812e-07 |
| CB | DOWN | ENST00000486191.5 | CBWD5-226:lncRNA:CBWD5 | 7.793288e+01 | -1.631526e+00 | 1.859592e-07 | 3.586907e-06 |
| CB | UP | ENST00000382404.6 | CBWD5-206:retained_intron:CBWD5 | 1.855001e+01 | 9.196943e-01 | 2.670507e-06 | 3.454605e-05 |
| CB | DOWN | ENST00000377392.9 | CBWD5-204:protein_coding:CBWD5 | 6.213778e+01 | -1.075904e+00 | 1.872190e-05 | 1.789970e-04 |
| CB | UP | ENST00000377395.8 | CBWD5-205:protein_coding:CBWD5 | 1.885916e+01 | 1.189231e+00 | 1.107608e-04 | 8.068038e-04 |
| CB | UP | ENST00000429800.6 | CBWD5-208:protein_coding:CBWD5 | 6.044909e+00 | 8.411885e-01 | 1.507625e-02 | 4.846576e-02 |
| TC | DOWN | ENST00000486191.5 | CBWD5-226:lncRNA:CBWD5 | 2.898376e+01 | -8.786972e-01 | 2.530131e-03 | 2.005733e-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 CBWD5 |
| 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_111950 | chr9 | 65688401:65689021:65690967:65691026:65692571:65692608 | 65690967:65691026 |
| exon_skip_11313 | chr9 | 65675941:65676130:65677128:65677229:65679166:65679212 | 65677128:65677229 |
| exon_skip_116255 | chr9 | 65719955:65720092:65731630:65731698:65731802:65731867 | 65731630:65731698 |
| exon_skip_116718 | chr9 | 65682766:65682857:65690967:65691026:65692571:65692607 | 65690967:65691026 |
| exon_skip_132232 | chr9 | 65675987:65676130:65679166:65679252:65681574:65681662 | 65679166:65679252 |
| exon_skip_133988 | chr9 | 65693393:65693473:65698515:65698561:65700251:65700337 | 65698515:65698561 |
| exon_skip_13785 | chr9 | 65731802:65731867:65732947:65733122:65733510:65733580 | 65732947:65733122 |
| exon_skip_139741 | chr9 | 65675987:65676130:65677128:65677229:65679166:65679212 | 65677128:65677229 |
| exon_skip_162819 | chr9 | 65682766:65682857:65690967:65691026:65692571:65692608 | 65690967:65691026 |
| exon_skip_185738 | chr9 | 65682813:65682857:65690556:65690601:65692571:65692608 | 65690556:65690601 |
| exon_skip_186386 | chr9 | 65698515:65698561:65702970:65703014:65720041:65720092 | 65702970:65703014 |
| exon_skip_190410 | chr9 | 65692571:65692608:65694905:65695049:65698515:65698561 | 65694905:65695049 |
| exon_skip_193529 | chr9 | 65675930:65676130:65677128:65677225:65679166:65679212 | 65677128:65677225 |
| exon_skip_202663 | chr9 | 65702970:65703014:65704331:65704547:65708902:65708958 | 65704331:65704547 |
| exon_skip_213436 | chr9 | 65702970:65703014:65704331:65704414:65708902:65708958 | 65704331:65704414 |
| exon_skip_215411 | chr9 | 65682766:65682857:65690556:65690601:65692571:65692608 | 65690556:65690601 |
| exon_skip_226407 | chr9 | 65731630:65731698:65731802:65731867:65732993:65733122 | 65731802:65731867 |
| exon_skip_227900 | chr9 | 65682813:65682857:65690967:65691026:65692571:65692608 | 65690967:65691026 |
| exon_skip_230651 | chr9 | 65700287:65700337:65708902:65708958:65720041:65720092 | 65708902:65708958 |
| exon_skip_238840 | chr9 | 65692571:65692608:65693386:65693473:65694905:65695049 | 65693386:65693473 |
| exon_skip_243125 | chr9 | 65681615:65681670:65682766:65682857:65690967:65691026 | 65682766:65682857 |
| exon_skip_245262 | chr9 | 65720041:65720092:65731630:65731698:65731802:65731867 | 65731630:65731698 |
| exon_skip_24740 | chr9 | 65693393:65693473:65694905:65695044:65698515:65698561 | 65694905:65695044 |
| exon_skip_255124 | chr9 | 65675930:65676130:65677128:65677225:65679166:65679252 | 65677128:65677225 |
| exon_skip_26444 | chr9 | 65731802:65731867:65732993:65733122:65733510:65733580 | 65732993:65733122 |
| exon_skip_26790 | chr9 | 65675987:65676130:65677128:65677225:65679166:65679212 | 65677128:65677225 |
| exon_skip_37824 | chr9 | 65702970:65703014:65707013:65707152:65708902:65708958 | 65707013:65707152 |
| exon_skip_4343 | chr9 | 65700287:65700337:65702970:65703014:65708902:65708958 | 65702970:65703014 |
| exon_skip_5081 | chr9 | 65693393:65693473:65698515:65698561:65702970:65703014 | 65698515:65698561 |
| exon_skip_52544 | chr9 | 65720048:65720092:65731630:65731698:65731802:65731867 | 65731630:65731698 |
| exon_skip_55845 | chr9 | 65692571:65692608:65693386:65693473:65698515:65698561 | 65693386:65693473 |
| exon_skip_60754 | chr9 | 65698515:65698561:65700251:65700337:65702970:65703014 | 65700251:65700337 |
| exon_skip_61311 | chr9 | 65702970:65703014:65708902:65708958:65720041:65720092 | 65708902:65708958 |
| exon_skip_6938 | chr9 | 65700287:65700337:65702970:65703014:65720041:65720092 | 65702970:65703014 |
| exon_skip_80845 | chr9 | 65692571:65692608:65698515:65698561:65700251:65700337 | 65698515:65698561 |
| exon_skip_8242 | chr9 | 65692571:65692608:65693386:65693473:65694905:65695044 | 65693386:65693473 |
| exon_skip_9425 | chr9 | 65698515:65698561:65700251:65700337:65702970:65703013 | 65700251:65700337 |
| exon_skip_99540 | chr9 | 65702970:65703014:65720041:65720092:65731630:65731698 | 65720041:65720092 |
| 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_55845 | Mayo_CB | 5.893902e-01 | 7.028571e-01 | -1.134669e-01 | 1.566682e-05 |
| exon_skip_55845 | Mayo_TC | 6.021951e-01 | 7.200000e-01 | -1.178049e-01 | 4.457233e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for CBWD5 |
| 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 |
| ENST00000382405 | 65682766 | 65682857 | Frame-shift |
| ENST00000382405 | 65732993 | 65733122 | Frame-shift |
| ENST00000382405 | 65679166 | 65679252 | In-frame |
| ENST00000382405 | 65690967 | 65691026 | In-frame |
| ENST00000382405 | 65700251 | 65700337 | In-frame |
| ENST00000382405 | 65702970 | 65703014 | In-frame |
| ENST00000382405 | 65708902 | 65708958 | In-frame |
| ENST00000382405 | 65731630 | 65731698 | In-frame |
| ENST00000382405 | 65731802 | 65731867 | 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 |
| ENST00000382405 | 65682766 | 65682857 | Frame-shift |
| ENST00000382405 | 65679166 | 65679252 | In-frame |
| ENST00000382405 | 65690967 | 65691026 | In-frame |
| ENST00000382405 | 65700251 | 65700337 | In-frame |
| ENST00000382405 | 65702970 | 65703014 | In-frame |
| ENST00000382405 | 65708902 | 65708958 | In-frame |
| ENST00000382405 | 65731630 | 65731698 | 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 |
| ENST00000382405 | 65682766 | 65682857 | Frame-shift |
| ENST00000382405 | 65698515 | 65698561 | Frame-shift |
| ENST00000382405 | 65732993 | 65733122 | Frame-shift |
| ENST00000382405 | 65679166 | 65679252 | In-frame |
| ENST00000382405 | 65690967 | 65691026 | In-frame |
| ENST00000382405 | 65700251 | 65700337 | In-frame |
| ENST00000382405 | 65702970 | 65703014 | In-frame |
| ENST00000382405 | 65708902 | 65708958 | In-frame |
| ENST00000382405 | 65731630 | 65731698 | In-frame |
| ENST00000382405 | 65731802 | 65731867 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CBWD5 |
p-ENSG00000147996_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 |
| ENST00000382405 | 1808 | 395 | 65679166 | 65679252 | 334 | 419 | 52 | 80 |
| ENST00000382405 | 1808 | 395 | 65690967 | 65691026 | 610 | 668 | 144 | 163 |
| ENST00000382405 | 1808 | 395 | 65700251 | 65700337 | 755 | 840 | 192 | 220 |
| ENST00000382405 | 1808 | 395 | 65702970 | 65703014 | 842 | 885 | 221 | 235 |
| ENST00000382405 | 1808 | 395 | 65708902 | 65708958 | 887 | 942 | 236 | 254 |
| ENST00000382405 | 1808 | 395 | 65731630 | 65731698 | 996 | 1063 | 272 | 295 |
| ENST00000382405 | 1808 | 395 | 65731802 | 65731867 | 1065 | 1129 | 295 | 317 |
| 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 |
| ENST00000382405 | 1808 | 395 | 65679166 | 65679252 | 334 | 419 | 52 | 80 |
| ENST00000382405 | 1808 | 395 | 65690967 | 65691026 | 610 | 668 | 144 | 163 |
| ENST00000382405 | 1808 | 395 | 65700251 | 65700337 | 755 | 840 | 192 | 220 |
| ENST00000382405 | 1808 | 395 | 65702970 | 65703014 | 842 | 885 | 221 | 235 |
| ENST00000382405 | 1808 | 395 | 65708902 | 65708958 | 887 | 942 | 236 | 254 |
| ENST00000382405 | 1808 | 395 | 65731630 | 65731698 | 996 | 1063 | 272 | 295 |
| 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 |
| ENST00000382405 | 1808 | 395 | 65679166 | 65679252 | 334 | 419 | 52 | 80 |
| ENST00000382405 | 1808 | 395 | 65690967 | 65691026 | 610 | 668 | 144 | 163 |
| ENST00000382405 | 1808 | 395 | 65700251 | 65700337 | 755 | 840 | 192 | 220 |
| ENST00000382405 | 1808 | 395 | 65702970 | 65703014 | 842 | 885 | 221 | 235 |
| ENST00000382405 | 1808 | 395 | 65708902 | 65708958 | 887 | 942 | 236 | 254 |
| ENST00000382405 | 1808 | 395 | 65731630 | 65731698 | 996 | 1063 | 272 | 295 |
| ENST00000382405 | 1808 | 395 | 65731802 | 65731867 | 1065 | 1129 | 295 | 317 |
| 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 |
| Q5RIA9 | 52 | 80 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 52 | 80 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 52 | 80 | 49 | 56 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5RIA9 | 144 | 163 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 144 | 163 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 144 | 163 | 147 | 147 | Natural variant | ID=VAR_067710;Note=T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs7874545,PMID:15489334 |
| Q5RIA9 | 192 | 220 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 192 | 220 | 192 | 220 | Alternative sequence | ID=VSP_040475;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5RIA9 | 192 | 220 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 192 | 220 | 203 | 206 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5RIA9 | 221 | 235 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 221 | 235 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 236 | 254 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 236 | 254 | 236 | 254 | Alternative sequence | ID=VSP_040476;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5RIA9 | 236 | 254 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 272 | 295 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 272 | 295 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 272 | 295 | 274 | 377 | Domain | Note=CobW C-terminal |
| Q5RIA9 | 272 | 295 | 288 | 288 | Natural variant | ID=VAR_067711;Note=E->D;Dbxref=dbSNP:rs1127334 |
| Q5RIA9 | 295 | 317 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 295 | 317 | 274 | 377 | Domain | Note=CobW C-terminal |
| 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 |
| Q5RIA9 | 52 | 80 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 52 | 80 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 52 | 80 | 49 | 56 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5RIA9 | 144 | 163 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 144 | 163 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 144 | 163 | 147 | 147 | Natural variant | ID=VAR_067710;Note=T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs7874545,PMID:15489334 |
| Q5RIA9 | 192 | 220 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 192 | 220 | 192 | 220 | Alternative sequence | ID=VSP_040475;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5RIA9 | 192 | 220 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 192 | 220 | 203 | 206 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5RIA9 | 221 | 235 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 221 | 235 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 236 | 254 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 236 | 254 | 236 | 254 | Alternative sequence | ID=VSP_040476;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5RIA9 | 236 | 254 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 272 | 295 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 272 | 295 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 272 | 295 | 274 | 377 | Domain | Note=CobW C-terminal |
| Q5RIA9 | 272 | 295 | 288 | 288 | Natural variant | ID=VAR_067711;Note=E->D;Dbxref=dbSNP:rs1127334 |
| 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 |
| Q5RIA9 | 52 | 80 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 52 | 80 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 52 | 80 | 49 | 56 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5RIA9 | 144 | 163 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 144 | 163 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 144 | 163 | 147 | 147 | Natural variant | ID=VAR_067710;Note=T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs7874545,PMID:15489334 |
| Q5RIA9 | 192 | 220 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 192 | 220 | 192 | 220 | Alternative sequence | ID=VSP_040475;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5RIA9 | 192 | 220 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 192 | 220 | 203 | 206 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5RIA9 | 221 | 235 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 221 | 235 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 236 | 254 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 236 | 254 | 236 | 254 | Alternative sequence | ID=VSP_040476;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5RIA9 | 236 | 254 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 272 | 295 | 1 | 291 | Alternative sequence | ID=VSP_033808;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5RIA9 | 272 | 295 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 272 | 295 | 274 | 377 | Domain | Note=CobW C-terminal |
| Q5RIA9 | 272 | 295 | 288 | 288 | Natural variant | ID=VAR_067711;Note=E->D;Dbxref=dbSNP:rs1127334 |
| Q5RIA9 | 295 | 317 | 1 | 395 | Chain | ID=PRO_0000317239;Note=COBW domain-containing protein 5 |
| Q5RIA9 | 295 | 317 | 274 | 377 | Domain | Note=CobW C-terminal |
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3'-UTR located exon skipping events that lost miRNA binding sites in CBWD5 |
| 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 CBWD5 |
| - Differential PSIs between mutated versus non-mutated samples. |
ENSG00000147996.exon_skip_243125.MSBB_FL.WGS.boxplot.svg |
ENSG00000147996.exon_skip_243125.MSBB_IFG.WGS.boxplot.svg |
ENSG00000147996.exon_skip_243125.MSBB_PG.WGS.boxplot.svg |
ENSG00000147996.exon_skip_243125.Mayo_CB.WGS.boxplot.svg |
ENSG00000147996.exon_skip_243125.Mayo_TC.WGS.boxplot.svg |
ENSG00000147996.exon_skip_243125.ROSMAP_HCC.WGS.boxplot.svg |
ENSG00000147996.exon_skip_243125.ROSMAP_PCC.WGS.boxplot.svg |
| - 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 CBWD5 |
| 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 CBWD5 |
| 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 CBWD5 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PCBP4 | exon_skip_55845 | 5.860748e-01 | 4.831128e-16 |
| CB | TRA2A | exon_skip_55845 | -5.400822e-01 | 2.027837e-13 |
| CB | HNRNPAB | exon_skip_55845 | -4.009819e-01 | 1.625210e-07 |
| CB | NUP42 | exon_skip_55845 | 4.146468e-01 | 5.514557e-08 |
| CB | TARDBP | exon_skip_37824 | -4.556040e-01 | 2.573265e-09 |
| CB | CNOT4 | exon_skip_37824 | -4.479167e-01 | 5.097907e-09 |
| IFG | DAZAP1 | exon_skip_60754 | -4.664482e-01 | 1.630509e-02 |
| IFG | MSI1 | exon_skip_60754 | -5.000107e-01 | 9.291949e-03 |
| IFG | PABPN1 | exon_skip_60754 | -7.666275e-01 | 4.943083e-06 |
| IFG | TRA2A | exon_skip_60754 | -5.859003e-01 | 1.660675e-03 |
| IFG | KHDRBS2 | exon_skip_60754 | -6.334057e-01 | 5.137190e-04 |
| IFG | SF1 | exon_skip_60754 | -5.831464e-01 | 1.767930e-03 |
| IFG | KHSRP | exon_skip_60754 | -4.072386e-01 | 3.893550e-02 |
| IFG | RBM45 | exon_skip_60754 | -6.612252e-01 | 2.352722e-04 |
| IFG | HNRNPD | exon_skip_60754 | -5.662032e-01 | 2.567876e-03 |
| IFG | NOVA1 | exon_skip_60754 | -6.073471e-01 | 1.000317e-03 |
| IFG | MBNL1 | exon_skip_145616 | 4.493344e-01 | 3.591242e-02 |
| TC | SRSF2 | exon_skip_55845 | 4.520286e-01 | 5.040629e-09 |
| TC | KHDRBS2 | exon_skip_55845 | 4.934384e-01 | 1.054235e-10 |
| TC | NUP42 | exon_skip_55845 | 4.338304e-01 | 2.358384e-08 |
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RelatedDrugs for CBWD5 |
| 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 CBWD5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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