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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 RFWD3 |
 Gene summary |
| Gene information | Gene symbol | RFWD3 | Gene ID | 55159 |
| Gene name | ring finger and WD repeat domain 3 | |
| Synonyms | FANCW|RNF201 | |
| Cytomap | 16q23.1 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase RFWD3RING finger and WD repeat domain-containing protein 3RING finger protein 201RING-type E3 ubiquitin transferase RFWD3 | |
| 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 |
| RFWD3 | GO:0000724 | double-strand break repair via homologous recombination | 26474068|28575657|28575658 |
| RFWD3 | GO:0006974 | cellular response to DNA damage stimulus | 26474068|28575657|28575658 |
| RFWD3 | GO:0010212 | response to ionizing radiation | 20173098 |
| RFWD3 | GO:0016567 | protein ubiquitination | 20173098|26474068|28575657|28575658 |
| RFWD3 | GO:0031297 | replication fork processing | 26474068 |
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Gene structures and expression levels for RFWD3 |
| 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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ENSG00000168411
| 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 RFWD3 |
| 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_102459 | chr16 | 74644620:74644735:74649132:74649202:74651920:74652122 | 74649132:74649202 |
| exon_skip_104682 | chr16 | 74628508:74628666:74630781:74630957:74632523:74632673 | 74630781:74630957 |
| exon_skip_155236 | chr16 | 74632523:74632673:74636346:74636577:74637856:74637970 | 74636346:74636577 |
| exon_skip_172865 | chr16 | 74651920:74652122:74660932:74661451:74664624:74664745 | 74660932:74661451 |
| exon_skip_214479 | chr16 | 74661101:74661451:74664624:74664745:74666786:74666832 | 74664624:74664745 |
| exon_skip_233895 | chr16 | 74649132:74649202:74651920:74652122:74660932:74661451 | 74651920:74652122 |
| exon_skip_261064 | chr16 | 74636346:74636577:74637856:74637970:74644362:74644453 | 74637856:74637970 |
| 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 RFWD3 |
| 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 |
| ENST00000571750 | 74664624 | 74664745 | 3UTR-3UTR |
| ENST00000361070 | 74651920 | 74652122 | Frame-shift |
| ENST00000571750 | 74651920 | 74652122 | Frame-shift |
| ENST00000361070 | 74630781 | 74630957 | In-frame |
| ENST00000571750 | 74630781 | 74630957 | 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 |
| ENST00000571750 | 74660932 | 74661451 | 3UTR-3CDS |
| ENST00000571750 | 74664624 | 74664745 | 3UTR-3UTR |
| ENST00000361070 | 74630781 | 74630957 | In-frame |
| ENST00000571750 | 74630781 | 74630957 | 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 |
| ENST00000571750 | 74664624 | 74664745 | 3UTR-3UTR |
| ENST00000361070 | 74636346 | 74636577 | Frame-shift |
| ENST00000571750 | 74636346 | 74636577 | Frame-shift |
| ENST00000361070 | 74637856 | 74637970 | Frame-shift |
| ENST00000571750 | 74637856 | 74637970 | Frame-shift |
| ENST00000361070 | 74649132 | 74649202 | Frame-shift |
| ENST00000571750 | 74649132 | 74649202 | Frame-shift |
| ENST00000361070 | 74651920 | 74652122 | Frame-shift |
| ENST00000571750 | 74651920 | 74652122 | Frame-shift |
| ENST00000361070 | 74630781 | 74630957 | In-frame |
| ENST00000571750 | 74630781 | 74630957 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RFWD3 |
p-ENSG00000168411_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 |
| ENST00000361070 | 4974 | 774 | 74630781 | 74630957 | 1676 | 1851 | 526 | 584 |
| ENST00000571750 | 3050 | 774 | 74630781 | 74630957 | 1787 | 1962 | 526 | 584 |
| 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 |
| ENST00000361070 | 4974 | 774 | 74630781 | 74630957 | 1676 | 1851 | 526 | 584 |
| ENST00000571750 | 3050 | 774 | 74630781 | 74630957 | 1787 | 1962 | 526 | 584 |
| 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 |
| ENST00000361070 | 4974 | 774 | 74630781 | 74630957 | 1676 | 1851 | 526 | 584 |
| ENST00000571750 | 3050 | 774 | 74630781 | 74630957 | 1787 | 1962 | 526 | 584 |
| 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 |
| Q6PCD5 | 526 | 584 | 520 | 526 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 520 | 526 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 531 | 537 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 531 | 537 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 542 | 547 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 542 | 547 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 550 | 552 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 550 | 552 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 554 | 559 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 554 | 559 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 564 | 568 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 564 | 568 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 572 | 574 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 572 | 574 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 576 | 579 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 576 | 579 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 1 | 774 | Chain | ID=PRO_0000278234;Note=E3 ubiquitin-protein ligase RFWD3 |
| Q6PCD5 | 526 | 584 | 1 | 774 | Chain | ID=PRO_0000278234;Note=E3 ubiquitin-protein ligase RFWD3 |
| Q6PCD5 | 526 | 584 | 543 | 543 | Mutagenesis | Note=Abolishes interaction with the RPA complex and subsequent recruitment at DNA damage sites. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28575657;Dbxref=PMID:28575657 |
| Q6PCD5 | 526 | 584 | 543 | 543 | Mutagenesis | Note=Abolishes interaction with the RPA complex and subsequent recruitment at DNA damage sites. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28575657;Dbxref=PMID:28575657 |
| Q6PCD5 | 526 | 584 | 564 | 564 | Natural variant | ID=VAR_030702;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs7193541 |
| Q6PCD5 | 526 | 584 | 564 | 564 | Natural variant | ID=VAR_030702;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs7193541 |
| Q6PCD5 | 526 | 584 | 495 | 537 | Repeat | Note=WD 1 |
| Q6PCD5 | 526 | 584 | 495 | 537 | Repeat | Note=WD 1 |
| Q6PCD5 | 526 | 584 | 539 | 577 | Repeat | Note=WD 2 |
| Q6PCD5 | 526 | 584 | 539 | 577 | Repeat | Note=WD 2 |
| Q6PCD5 | 526 | 584 | 583 | 628 | Repeat | Note=WD 3 |
| Q6PCD5 | 526 | 584 | 583 | 628 | Repeat | Note=WD 3 |
| Q6PCD5 | 526 | 584 | 552 | 552 | Sequence conflict | Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6PCD5 | 526 | 584 | 552 | 552 | Sequence conflict | Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6PCD5 | 526 | 584 | 527 | 530 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 527 | 530 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| 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 |
| Q6PCD5 | 526 | 584 | 520 | 526 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 520 | 526 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 531 | 537 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 531 | 537 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 542 | 547 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 542 | 547 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 550 | 552 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 550 | 552 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 554 | 559 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 554 | 559 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 564 | 568 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 564 | 568 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 572 | 574 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 572 | 574 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 576 | 579 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 576 | 579 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 1 | 774 | Chain | ID=PRO_0000278234;Note=E3 ubiquitin-protein ligase RFWD3 |
| Q6PCD5 | 526 | 584 | 1 | 774 | Chain | ID=PRO_0000278234;Note=E3 ubiquitin-protein ligase RFWD3 |
| Q6PCD5 | 526 | 584 | 543 | 543 | Mutagenesis | Note=Abolishes interaction with the RPA complex and subsequent recruitment at DNA damage sites. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28575657;Dbxref=PMID:28575657 |
| Q6PCD5 | 526 | 584 | 543 | 543 | Mutagenesis | Note=Abolishes interaction with the RPA complex and subsequent recruitment at DNA damage sites. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28575657;Dbxref=PMID:28575657 |
| Q6PCD5 | 526 | 584 | 564 | 564 | Natural variant | ID=VAR_030702;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs7193541 |
| Q6PCD5 | 526 | 584 | 564 | 564 | Natural variant | ID=VAR_030702;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs7193541 |
| Q6PCD5 | 526 | 584 | 495 | 537 | Repeat | Note=WD 1 |
| Q6PCD5 | 526 | 584 | 495 | 537 | Repeat | Note=WD 1 |
| Q6PCD5 | 526 | 584 | 539 | 577 | Repeat | Note=WD 2 |
| Q6PCD5 | 526 | 584 | 539 | 577 | Repeat | Note=WD 2 |
| Q6PCD5 | 526 | 584 | 583 | 628 | Repeat | Note=WD 3 |
| Q6PCD5 | 526 | 584 | 583 | 628 | Repeat | Note=WD 3 |
| Q6PCD5 | 526 | 584 | 552 | 552 | Sequence conflict | Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6PCD5 | 526 | 584 | 552 | 552 | Sequence conflict | Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6PCD5 | 526 | 584 | 527 | 530 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 527 | 530 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| 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 |
| Q6PCD5 | 526 | 584 | 520 | 526 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 520 | 526 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 531 | 537 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 531 | 537 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 542 | 547 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 542 | 547 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 550 | 552 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 550 | 552 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 554 | 559 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 554 | 559 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 564 | 568 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 564 | 568 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 572 | 574 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 572 | 574 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 576 | 579 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 576 | 579 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 1 | 774 | Chain | ID=PRO_0000278234;Note=E3 ubiquitin-protein ligase RFWD3 |
| Q6PCD5 | 526 | 584 | 1 | 774 | Chain | ID=PRO_0000278234;Note=E3 ubiquitin-protein ligase RFWD3 |
| Q6PCD5 | 526 | 584 | 543 | 543 | Mutagenesis | Note=Abolishes interaction with the RPA complex and subsequent recruitment at DNA damage sites. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28575657;Dbxref=PMID:28575657 |
| Q6PCD5 | 526 | 584 | 543 | 543 | Mutagenesis | Note=Abolishes interaction with the RPA complex and subsequent recruitment at DNA damage sites. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28575657;Dbxref=PMID:28575657 |
| Q6PCD5 | 526 | 584 | 564 | 564 | Natural variant | ID=VAR_030702;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs7193541 |
| Q6PCD5 | 526 | 584 | 564 | 564 | Natural variant | ID=VAR_030702;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs7193541 |
| Q6PCD5 | 526 | 584 | 495 | 537 | Repeat | Note=WD 1 |
| Q6PCD5 | 526 | 584 | 495 | 537 | Repeat | Note=WD 1 |
| Q6PCD5 | 526 | 584 | 539 | 577 | Repeat | Note=WD 2 |
| Q6PCD5 | 526 | 584 | 539 | 577 | Repeat | Note=WD 2 |
| Q6PCD5 | 526 | 584 | 583 | 628 | Repeat | Note=WD 3 |
| Q6PCD5 | 526 | 584 | 583 | 628 | Repeat | Note=WD 3 |
| Q6PCD5 | 526 | 584 | 552 | 552 | Sequence conflict | Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6PCD5 | 526 | 584 | 552 | 552 | Sequence conflict | Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6PCD5 | 526 | 584 | 527 | 530 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
| Q6PCD5 | 526 | 584 | 527 | 530 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CVZ |
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3'-UTR located exon skipping events that lost miRNA binding sites in RFWD3 |
| 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 | ENST00000571750 | 74664624 | 74664745 | hsa-miR-1976 | chr16:74664653-74664660 | 8mer-1a | chr16:74664645-74664664 | 160.00 | -23.08 |
| Mayo | ENST00000571750 | 74664624 | 74664745 | hsa-miR-6747-3p | chr16:74664651-74664658 | 8mer-1a | chr16:74664645-74664664 | 160.00 | -23.08 |
| Mayo | ENST00000571750 | 74664624 | 74664745 | hsa-miR-6777-3p | chr16:74664676-74664683 | 8mer-1a | chr16:74664664-74664683 | 157.00 | -24.18 |
| Mayo | ENST00000571750 | 74664624 | 74664745 | hsa-miR-4638-5p | chr16:74664694-74664701 | 8mer-1a | chr16:74664694-74664716 | 163.00 | -26.24 |
| Mayo | ENST00000571750 | 74664624 | 74664745 | hsa-miR-550b-3p | chr16:74664732-74664739 | 8mer-1a | chr16:74664720-74664741 | 162.00 | -22.08 |
| Mayo | ENST00000571750 | 74664624 | 74664745 | hsa-miR-504-3p | chr16:74664712-74664719 | 8mer-1a | chr16:74664698-74664719 | 162.00 | -31.89 |
| MSBB | ENST00000571750 | 74664624 | 74664745 | hsa-miR-1976 | chr16:74664653-74664660 | 8mer-1a | chr16:74664645-74664664 | 160.00 | -23.08 |
| MSBB | ENST00000571750 | 74664624 | 74664745 | hsa-miR-6747-3p | chr16:74664651-74664658 | 8mer-1a | chr16:74664645-74664664 | 160.00 | -23.08 |
| MSBB | ENST00000571750 | 74664624 | 74664745 | hsa-miR-6777-3p | chr16:74664676-74664683 | 8mer-1a | chr16:74664664-74664683 | 157.00 | -24.18 |
| MSBB | ENST00000571750 | 74664624 | 74664745 | hsa-miR-4638-5p | chr16:74664694-74664701 | 8mer-1a | chr16:74664694-74664716 | 163.00 | -26.24 |
| MSBB | ENST00000571750 | 74664624 | 74664745 | hsa-miR-550b-3p | chr16:74664732-74664739 | 8mer-1a | chr16:74664720-74664741 | 162.00 | -22.08 |
| MSBB | ENST00000571750 | 74664624 | 74664745 | hsa-miR-504-3p | chr16:74664712-74664719 | 8mer-1a | chr16:74664698-74664719 | 162.00 | -31.89 |
| ROSMAP | ENST00000571750 | 74664624 | 74664745 | hsa-miR-1976 | chr16:74664653-74664660 | 8mer-1a | chr16:74664645-74664664 | 160.00 | -23.08 |
| ROSMAP | ENST00000571750 | 74664624 | 74664745 | hsa-miR-6747-3p | chr16:74664651-74664658 | 8mer-1a | chr16:74664645-74664664 | 160.00 | -23.08 |
| ROSMAP | ENST00000571750 | 74664624 | 74664745 | hsa-miR-6777-3p | chr16:74664676-74664683 | 8mer-1a | chr16:74664664-74664683 | 157.00 | -24.18 |
| ROSMAP | ENST00000571750 | 74664624 | 74664745 | hsa-miR-4638-5p | chr16:74664694-74664701 | 8mer-1a | chr16:74664694-74664716 | 163.00 | -26.24 |
| ROSMAP | ENST00000571750 | 74664624 | 74664745 | hsa-miR-550b-3p | chr16:74664732-74664739 | 8mer-1a | chr16:74664720-74664741 | 162.00 | -22.08 |
| ROSMAP | ENST00000571750 | 74664624 | 74664745 | hsa-miR-504-3p | chr16:74664712-74664719 | 8mer-1a | chr16:74664698-74664719 | 162.00 | -31.89 |
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SNVs in the skipped exons for RFWD3 |
| - 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 RFWD3 |
| 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 RFWD3 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_104682 | rs7193541 | chr16:74630845 | 1.602811e-11 | 1.898536e-08 |
| CB | exon_skip_104682 | rs4402594 | chr16:74667462 | 2.578964e-11 | 2.971668e-08 |
| CB | exon_skip_104682 | rs4888262 | chr16:74636560 | 3.696531e-08 | 2.003626e-05 |
| CB | exon_skip_104682 | rs10871295 | chr16:74691035 | 1.779920e-04 | 2.719801e-02 |
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Correlation with RNA binding proteins (RBPs) for RFWD3 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for RFWD3 |
| 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 RFWD3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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