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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for SAFB |
 Gene summary |
| Gene information | Gene symbol | SAFB | Gene ID | 6294 |
| Gene name | scaffold attachment factor B | |
| Synonyms | HAP|HET|SAB-B1|SAF-B|SAF-B1|SAFB1 | |
| Cytomap | 19p13.3 | |
| Type of gene | protein-coding | |
| Description | scaffold attachment factor B1HSP27 ERE-TATA-binding proteinHSP27 estrogen response element-TATA box-binding proteinHsp27 ERE-TATA binding proteinglutathione S-transferase fusion proteinheat-shock protein (HSP27) estrogen response element and TATA box | |
| Modification date | 20180523 | |
| UniProtAcc | Q15424 | |
| Context | PubMed: SAFB [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for SAFB from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for SAFB |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for SAFB |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_301183 | 19 | 5626415:5626500:5641604:5641669:5645347:5645410 | 5641604:5641669 | ENSG00000160633.8 | ENST00000454510.1 |
| exon_skip_301184 | 19 | 5641604:5641669:5641750:5641957:5645347:5645410 | 5641750:5641957 | ENSG00000160633.8 | ENST00000588852.1,ENST00000592224.1,ENST00000586934.1,ENST00000433404.1,ENST00000292123.5 |
| exon_skip_301187 | 19 | 5648026:5648054:5648999:5649510:5649936:5649986 | 5648999:5649510 | ENSG00000160633.8 | ENST00000454510.1,ENST00000589863.1,ENST00000538656.1,ENST00000588852.1,ENST00000592224.1,ENST00000433404.1,ENST00000292123.5 |
| exon_skip_301188 | 19 | 5649936:5649986:5650988:5651083:5653125:5653253 | 5650988:5651083 | ENSG00000160633.8 | ENST00000454510.1,ENST00000592396.1,ENST00000589863.1,ENST00000538656.1,ENST00000592707.1,ENST00000588852.1,ENST00000592224.1,ENST00000586934.1,ENST00000433404.1,ENST00000292123.5 |
| exon_skip_301189 | 19 | 5650988:5651083:5653125:5653275:5653348:5653431 | 5653125:5653275 | ENSG00000160633.8 | ENST00000454510.1,ENST00000592396.1,ENST00000589863.1,ENST00000538656.1,ENST00000588852.1,ENST00000592224.1,ENST00000433404.1,ENST00000292123.5 |
| exon_skip_301194 | 19 | 5653348:5653431:5654071:5654211:5654378:5654467 | 5654071:5654211 | ENSG00000160633.8 | ENST00000454510.1,ENST00000589863.1,ENST00000538656.1,ENST00000588852.1,ENST00000592224.1,ENST00000433404.1,ENST00000292123.5 |
| exon_skip_301197 | 19 | 5654071:5654211:5654378:5654467:5657251:5657358 | 5654378:5654467 | ENSG00000160633.8 | ENST00000454510.1,ENST00000589863.1,ENST00000538656.1,ENST00000588852.1,ENST00000592224.1,ENST00000433404.1,ENST00000292123.5 |
| exon_skip_301199 | 19 | 5654378:5654467:5657251:5657358:5661528:5661819 | 5657251:5657358 | ENSG00000160633.8 | ENST00000454510.1,ENST00000588852.1,ENST00000433404.1,ENST00000292123.5 |
| exon_skip_301200 | 19 | 5654378:5654467:5657251:5657358:5661531:5661819 | 5657251:5657358 | ENSG00000160633.8 | ENST00000589863.1,ENST00000538656.1,ENST00000592224.1 |
| exon_skip_301201 | 19 | 5657335:5657358:5661498:5661819:5664032:5664147 | 5661498:5661819 | ENSG00000160633.8 | ENST00000589006.1 |
| exon_skip_301203 | 19 | 5657335:5657358:5661528:5661819:5664032:5664147 | 5661528:5661819 | ENSG00000160633.8 | ENST00000454510.1,ENST00000588852.1,ENST00000433404.1,ENST00000292123.5 |
| exon_skip_301204 | 19 | 5657335:5657358:5661531:5661819:5664032:5664147 | 5661531:5661819 | ENSG00000160633.8 | ENST00000589863.1,ENST00000538656.1,ENST00000592224.1 |
| exon_skip_301206 | 19 | 5664139:5664170:5664407:5664450:5667056:5667175 | 5664407:5664450 | ENSG00000160633.8 | ENST00000454510.1,ENST00000589863.1,ENST00000538656.1,ENST00000588852.1,ENST00000592224.1,ENST00000433404.1,ENST00000292123.5 |
| exon_skip_301207 | 19 | 5667056:5667175:5667357:5667461:5667830:5667897 | 5667357:5667461 | ENSG00000160633.8 | ENST00000454510.1,ENST00000589863.1,ENST00000538656.1,ENST00000588852.1,ENST00000592224.1,ENST00000433404.1 |
| exon_skip_301208 | 19 | 5667056:5667175:5667363:5667461:5667830:5667897 | 5667363:5667461 | ENSG00000160633.8 | ENST00000292123.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SAFB |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_301183 | 19 | 5626415:5626500:5641604:5641669:5645347:5645410 | 5641604:5641669 | ENSG00000160633.8 | ENST00000454510.1 |
| exon_skip_301184 | 19 | 5641604:5641669:5641750:5641957:5645347:5645410 | 5641750:5641957 | ENSG00000160633.8 | ENST00000292123.5,ENST00000592224.1,ENST00000586934.1,ENST00000433404.1,ENST00000588852.1 |
| exon_skip_301187 | 19 | 5648026:5648054:5648999:5649510:5649936:5649986 | 5648999:5649510 | ENSG00000160633.8 | ENST00000589863.1,ENST00000292123.5,ENST00000592224.1,ENST00000454510.1,ENST00000433404.1,ENST00000588852.1,ENST00000538656.1 |
| exon_skip_301188 | 19 | 5649936:5649986:5650988:5651083:5653125:5653253 | 5650988:5651083 | ENSG00000160633.8 | ENST00000589863.1,ENST00000292123.5,ENST00000592224.1,ENST00000586934.1,ENST00000454510.1,ENST00000433404.1,ENST00000588852.1,ENST00000538656.1,ENST00000592707.1,ENST00000592396.1 |
| exon_skip_301189 | 19 | 5650988:5651083:5653125:5653275:5653348:5653431 | 5653125:5653275 | ENSG00000160633.8 | ENST00000589863.1,ENST00000292123.5,ENST00000592224.1,ENST00000454510.1,ENST00000433404.1,ENST00000588852.1,ENST00000538656.1,ENST00000592396.1 |
| exon_skip_301194 | 19 | 5653348:5653431:5654071:5654211:5654378:5654467 | 5654071:5654211 | ENSG00000160633.8 | ENST00000589863.1,ENST00000292123.5,ENST00000592224.1,ENST00000454510.1,ENST00000433404.1,ENST00000588852.1,ENST00000538656.1 |
| exon_skip_301197 | 19 | 5654071:5654211:5654378:5654467:5657251:5657358 | 5654378:5654467 | ENSG00000160633.8 | ENST00000589863.1,ENST00000292123.5,ENST00000592224.1,ENST00000454510.1,ENST00000433404.1,ENST00000588852.1,ENST00000538656.1 |
| exon_skip_301199 | 19 | 5654378:5654467:5657251:5657358:5661528:5661819 | 5657251:5657358 | ENSG00000160633.8 | ENST00000292123.5,ENST00000454510.1,ENST00000433404.1,ENST00000588852.1 |
| exon_skip_301200 | 19 | 5654378:5654467:5657251:5657358:5661531:5661819 | 5657251:5657358 | ENSG00000160633.8 | ENST00000589863.1,ENST00000592224.1,ENST00000538656.1 |
| exon_skip_301201 | 19 | 5657335:5657358:5661498:5661819:5664032:5664147 | 5661498:5661819 | ENSG00000160633.8 | ENST00000589006.1 |
| exon_skip_301203 | 19 | 5657335:5657358:5661528:5661819:5664032:5664147 | 5661528:5661819 | ENSG00000160633.8 | ENST00000292123.5,ENST00000454510.1,ENST00000433404.1,ENST00000588852.1 |
| exon_skip_301204 | 19 | 5657335:5657358:5661531:5661819:5664032:5664147 | 5661531:5661819 | ENSG00000160633.8 | ENST00000589863.1,ENST00000592224.1,ENST00000538656.1 |
| exon_skip_301206 | 19 | 5664139:5664170:5664407:5664450:5667056:5667175 | 5664407:5664450 | ENSG00000160633.8 | ENST00000589863.1,ENST00000292123.5,ENST00000592224.1,ENST00000454510.1,ENST00000433404.1,ENST00000588852.1,ENST00000538656.1 |
| exon_skip_301207 | 19 | 5667056:5667175:5667357:5667461:5667830:5667897 | 5667357:5667461 | ENSG00000160633.8 | ENST00000589863.1,ENST00000592224.1,ENST00000454510.1,ENST00000433404.1,ENST00000588852.1,ENST00000538656.1 |
| exon_skip_301208 | 19 | 5667056:5667175:5667363:5667461:5667830:5667897 | 5667363:5667461 | ENSG00000160633.8 | ENST00000292123.5 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for SAFB |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000292123 | 5648999 | 5649510 | Frame-shift |
| ENST00000292123 | 5650988 | 5651083 | Frame-shift |
| ENST00000292123 | 5654071 | 5654211 | Frame-shift |
| ENST00000292123 | 5654378 | 5654467 | Frame-shift |
| ENST00000292123 | 5657251 | 5657358 | Frame-shift |
| ENST00000292123 | 5664407 | 5664450 | Frame-shift |
| ENST00000292123 | 5667363 | 5667461 | Frame-shift |
| ENST00000292123 | 5641750 | 5641957 | In-frame |
| ENST00000292123 | 5653125 | 5653275 | In-frame |
| ENST00000292123 | 5661528 | 5661819 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000292123 | 5648999 | 5649510 | Frame-shift |
| ENST00000292123 | 5650988 | 5651083 | Frame-shift |
| ENST00000292123 | 5654071 | 5654211 | Frame-shift |
| ENST00000292123 | 5654378 | 5654467 | Frame-shift |
| ENST00000292123 | 5657251 | 5657358 | Frame-shift |
| ENST00000292123 | 5664407 | 5664450 | Frame-shift |
| ENST00000292123 | 5667363 | 5667461 | Frame-shift |
| ENST00000292123 | 5641750 | 5641957 | In-frame |
| ENST00000292123 | 5653125 | 5653275 | In-frame |
| ENST00000292123 | 5661528 | 5661819 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SAFB |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000292123 | 3059 | 915 | 5641750 | 5641957 | 447 | 653 | 113 | 182 |
| ENST00000292123 | 3059 | 915 | 5653125 | 5653275 | 1401 | 1550 | 431 | 481 |
| ENST00000292123 | 3059 | 915 | 5661528 | 5661819 | 1970 | 2260 | 621 | 717 |
| Loci of skipped exons in GTEx 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 |
| ENST00000292123 | 3059 | 915 | 5641750 | 5641957 | 447 | 653 | 113 | 182 |
| ENST00000292123 | 3059 | 915 | 5653125 | 5653275 | 1401 | 1550 | 431 | 481 |
| ENST00000292123 | 3059 | 915 | 5661528 | 5661819 | 1970 | 2260 | 621 | 717 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Q15424 | 113 | 182 | 114 | 182 | Alternative sequence | ID=VSP_045838;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q15424 | 113 | 182 | 2 | 915 | Chain | ID=PRO_0000081905;Note=Scaffold attachment factor B1 |
| Q15424 | 113 | 182 | 172 | 172 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733 |
| Q15424 | 431 | 481 | 2 | 915 | Chain | ID=PRO_0000081905;Note=Scaffold attachment factor B1 |
| Q15424 | 431 | 481 | 406 | 484 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q15424 | 431 | 481 | 463 | 463 | Sequence conflict | Note=C->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15424 | 621 | 717 | 621 | 621 | Alternative sequence | ID=VSP_046902;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.5;Dbxref=PMID:15489334 |
| Q15424 | 621 | 717 | 2 | 915 | Chain | ID=PRO_0000081905;Note=Scaffold attachment factor B1 |
| Q15424 | 621 | 717 | 612 | 831 | Compositional bias | Note=Arg-rich |
| Q15424 | 621 | 717 | 625 | 705 | Compositional bias | Note=Glu-rich |
| Q15424 | 621 | 717 | 528 | 792 | Region | Note=Interaction with POLR2A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9671816;Dbxref=PMID:9671816 |
| Q15424 | 621 | 717 | 599 | 915 | Region | Note=Interaction with SAFB2 |
| Q15424 | 621 | 717 | 692 | 692 | Sequence conflict | Note=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| Q15424 | 113 | 182 | 114 | 182 | Alternative sequence | ID=VSP_045838;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q15424 | 113 | 182 | 2 | 915 | Chain | ID=PRO_0000081905;Note=Scaffold attachment factor B1 |
| Q15424 | 113 | 182 | 172 | 172 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733 |
| Q15424 | 431 | 481 | 2 | 915 | Chain | ID=PRO_0000081905;Note=Scaffold attachment factor B1 |
| Q15424 | 431 | 481 | 406 | 484 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q15424 | 431 | 481 | 463 | 463 | Sequence conflict | Note=C->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15424 | 621 | 717 | 621 | 621 | Alternative sequence | ID=VSP_046902;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.5;Dbxref=PMID:15489334 |
| Q15424 | 621 | 717 | 2 | 915 | Chain | ID=PRO_0000081905;Note=Scaffold attachment factor B1 |
| Q15424 | 621 | 717 | 612 | 831 | Compositional bias | Note=Arg-rich |
| Q15424 | 621 | 717 | 625 | 705 | Compositional bias | Note=Glu-rich |
| Q15424 | 621 | 717 | 528 | 792 | Region | Note=Interaction with POLR2A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9671816;Dbxref=PMID:9671816 |
| Q15424 | 621 | 717 | 599 | 915 | Region | Note=Interaction with SAFB2 |
| Q15424 | 621 | 717 | 692 | 692 | Sequence conflict | Note=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for SAFB |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
SAFB_HNSC_exon_skip_301206_psi_boxplot.png |
SAFB_LUSC_exon_skip_301206_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| BLCA | TCGA-UY-A78K-01 | exon_skip_301197 | 5654379 | 5654467 | 5654461 | 5654462 | Frame_Shift_Del | AG | - | p.E584fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_301200 exon_skip_301199 | 5657252 | 5657358 | 5657352 | 5657352 | Frame_Shift_Del | C | - | p.S619fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_301201 | 5661499 | 5661819 | 5661612 | 5661613 | Frame_Shift_Del | GA | - | p.R651fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_301204 exon_skip_301203 | 5661529 | 5661819 | 5661612 | 5661613 | Frame_Shift_Del | GA | - | p.R651fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_301204 exon_skip_301203 | 5661532 | 5661819 | 5661612 | 5661613 | Frame_Shift_Del | GA | - | p.R651fs |
| COAD | TCGA-A6-6781-01 | exon_skip_301208 exon_skip_301207 | 5667358 | 5667461 | 5667372 | 5667372 | Frame_Shift_Del | G | - | p.W821fs |
| COAD | TCGA-A6-6781-01 | exon_skip_301208 exon_skip_301207 | 5667364 | 5667461 | 5667372 | 5667372 | Frame_Shift_Del | G | - | p.W821fs |
| HNSC | TCGA-CN-6998-01 | exon_skip_301184 | 5641751 | 5641957 | 5641946 | 5641946 | Nonsense_Mutation | C | T | p.Q179* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_301197 | 5654379 | 5654467 | 5654384 | 5654384 | Nonsense_Mutation | C | T | p.R558* |
| UCEC | TCGA-BS-A0TC-01 | exon_skip_301197 | 5654379 | 5654467 | 5654384 | 5654384 | Nonsense_Mutation | C | T | p.R558* |
| HNSC | TCGA-MT-A67A-01 | exon_skip_301206 | 5664408 | 5664450 | 5664419 | 5664419 | Nonsense_Mutation | C | G | p.S768* |
| HNSC | TCGA-BA-A6DJ-01 | exon_skip_301206 | 5664408 | 5664450 | 5664425 | 5664425 | Nonsense_Mutation | C | G | p.S770* |
| READ | TCGA-EI-6883-01 | exon_skip_301200 exon_skip_301199 | 5657252 | 5657358 | 5657359 | 5657359 | Splice_Site | G | T | . |
| LUSC | TCGA-43-6143-01 | exon_skip_301206 | 5664408 | 5664450 | 5664451 | 5664451 | Splice_Site | G | T | p.Q778_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-43-6143-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_301206 | |
| Skipped exon start: 5664408 | |
| Skipped exon end: 5664450 | |
| Mutation start: 5664451 | |
| Mutation end: 5664451 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.Q778_splice | |
exon_skip_121160_LUSC_TCGA-43-6143-01.png | |
exon_skip_301206_LUSC_TCGA-43-6143-01.png | |
 | Sample: TCGA-B5-A0K9-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_301203 | |
| Skipped exon start: 5661532 | |
| Skipped exon end: 5661819 | |
| Mutation start: 5661612 | |
| Mutation end: 5661613 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GA | |
| Mutation seq: - | |
| AAchange: p.R651fs | |
| Sample: TCGA-B5-A0K9-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_301201 | |
| Skipped exon start: 5661499 | |
| Skipped exon end: 5661819 | |
| Mutation start: 5661612 | |
| Mutation end: 5661613 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GA | |
| Mutation seq: - | |
| AAchange: p.R651fs | |
| Sample: TCGA-B5-A0K9-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_301203 | |
| Skipped exon start: 5661529 | |
| Skipped exon end: 5661819 | |
| Mutation start: 5661612 | |
| Mutation end: 5661613 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GA | |
| Mutation seq: - | |
| AAchange: p.R651fs | |
exon_skip_101656_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_25134_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_295913_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_301201_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_319638_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_321422_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_321423_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_321427_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_32745_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_382168_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_420494_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_421737_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_438393_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_468121_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_54935_UCEC_TCGA-B5-A0K9-01.png | |
 | Sample: TCGA-AX-A05Z-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_301197 | |
| Skipped exon start: 5654379 | |
| Skipped exon end: 5654467 | |
| Mutation start: 5654384 | |
| Mutation end: 5654384 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R558* | |
exon_skip_19387_UCEC_TCGA-AX-A05Z-01.png | |
exon_skip_19397_UCEC_TCGA-AX-A05Z-01.png | |
exon_skip_301197_UCEC_TCGA-AX-A05Z-01.png | |
exon_skip_340619_UCEC_TCGA-AX-A05Z-01.png | |
exon_skip_382353_UCEC_TCGA-AX-A05Z-01.png | |
exon_skip_429532_UCEC_TCGA-AX-A05Z-01.png | |
exon_skip_429535_UCEC_TCGA-AX-A05Z-01.png | |
exon_skip_71335_UCEC_TCGA-AX-A05Z-01.png | |
exon_skip_74728_UCEC_TCGA-AX-A05Z-01.png | |
| - 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 |
| A375_SKIN | 5641751 | 5641957 | 5641832 | 5641832 | Frame_Shift_Del | A | - | p.N141fs |
| FTC133_THYROID | 5641605 | 5641669 | 5641635 | 5641635 | Missense_Mutation | A | G | p.D102G |
| NCIBL128_MATCHED_NORMAL_TISSUE | 5641751 | 5641957 | 5641769 | 5641769 | Missense_Mutation | C | G | p.L120V |
| NCIH128_LUNG | 5641751 | 5641957 | 5641769 | 5641769 | Missense_Mutation | C | G | p.L120V |
| EN_ENDOMETRIUM | 5641751 | 5641957 | 5641805 | 5641805 | Missense_Mutation | A | G | p.S132G |
| ASH3_THYROID | 5641751 | 5641957 | 5641841 | 5641841 | Missense_Mutation | G | A | p.V144I |
| SNU761_LIVER | 5641751 | 5641957 | 5641906 | 5641906 | Missense_Mutation | G | T | p.E165D |
| GP2D_LARGE_INTESTINE | 5649000 | 5649510 | 5649255 | 5649255 | Missense_Mutation | C | T | p.A298V |
| MCAS_OVARY | 5649000 | 5649510 | 5649329 | 5649329 | Missense_Mutation | G | A | p.A323T |
| IGR1_SKIN | 5649000 | 5649510 | 5649483 | 5649483 | Missense_Mutation | C | T | p.T374I |
| NCIH2291_LUNG | 5650989 | 5651083 | 5650992 | 5650992 | Missense_Mutation | G | A | p.R401H |
| NCIH322_LUNG | 5650989 | 5651083 | 5651033 | 5651033 | Missense_Mutation | T | A | p.S415T |
| MELJUSO_SKIN | 5650989 | 5651083 | 5651063 | 5651063 | Missense_Mutation | C | T | p.L425F |
| IMR5_AUTONOMIC_GANGLIA | 5653126 | 5653275 | 5653202 | 5653202 | Missense_Mutation | C | T | p.A457V |
| IMR32_AUTONOMIC_GANGLIA | 5653126 | 5653275 | 5653202 | 5653202 | Missense_Mutation | C | T | p.A457V |
| HEMCSS_BONE | 5654072 | 5654211 | 5654079 | 5654079 | Missense_Mutation | A | G | p.N512D |
| PECAPJ15_UPPER_AERODIGESTIVE_TRACT | 5654072 | 5654211 | 5654112 | 5654112 | Missense_Mutation | G | C | p.D523H |
| KMRC2_KIDNEY | 5654072 | 5654211 | 5654176 | 5654176 | Missense_Mutation | C | G | p.P544R |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5654072 | 5654211 | 5654188 | 5654188 | Missense_Mutation | A | G | p.E548G |
| SKPNDW_BONE | 5654072 | 5654211 | 5654197 | 5654197 | Missense_Mutation | G | A | p.R551Q |
| RS5_FIBROBLAST | 5654072 | 5654211 | 5654209 | 5654209 | Missense_Mutation | C | T | p.S555L |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5657252 | 5657358 | 5657342 | 5657342 | Missense_Mutation | G | T | p.D616Y |
| COLO792_SKIN | 5657252 | 5657358 | 5657354 | 5657354 | Missense_Mutation | C | T | p.H620Y |
| HEC6_ENDOMETRIUM | 5661532 | 5661819 | 5661561 | 5661561 | Missense_Mutation | G | A | p.R632H |
| HEC6_ENDOMETRIUM | 5661499 | 5661819 | 5661561 | 5661561 | Missense_Mutation | G | A | p.R632H |
| HEC6_ENDOMETRIUM | 5661529 | 5661819 | 5661561 | 5661561 | Missense_Mutation | G | A | p.R632H |
| SKOV3_OVARY | 5661532 | 5661819 | 5661581 | 5661581 | Missense_Mutation | C | T | p.R639C |
| SKOV3_OVARY | 5661499 | 5661819 | 5661581 | 5661581 | Missense_Mutation | C | T | p.R639C |
| SKOV3_OVARY | 5661529 | 5661819 | 5661581 | 5661581 | Missense_Mutation | C | T | p.R639C |
| HCT15_LARGE_INTESTINE | 5661532 | 5661819 | 5661633 | 5661633 | Missense_Mutation | G | A | p.R656H |
| HCT15_LARGE_INTESTINE | 5661499 | 5661819 | 5661633 | 5661633 | Missense_Mutation | G | A | p.R656H |
| HCT15_LARGE_INTESTINE | 5661529 | 5661819 | 5661633 | 5661633 | Missense_Mutation | G | A | p.R656H |
| NCIH630_LARGE_INTESTINE | 5661532 | 5661819 | 5661668 | 5661668 | Missense_Mutation | C | T | p.R668W |
| NCIH630_LARGE_INTESTINE | 5661499 | 5661819 | 5661668 | 5661668 | Missense_Mutation | C | T | p.R668W |
| NCIH630_LARGE_INTESTINE | 5661529 | 5661819 | 5661668 | 5661668 | Missense_Mutation | C | T | p.R668W |
| OC316_OVARY | 5661532 | 5661819 | 5661738 | 5661738 | Missense_Mutation | G | A | p.R691H |
| OC316_OVARY | 5661499 | 5661819 | 5661738 | 5661738 | Missense_Mutation | G | A | p.R691H |
| OC316_OVARY | 5661529 | 5661819 | 5661738 | 5661738 | Missense_Mutation | G | A | p.R691H |
| OC314_OVARY | 5661532 | 5661819 | 5661738 | 5661738 | Missense_Mutation | G | A | p.R691H |
| OC314_OVARY | 5661499 | 5661819 | 5661738 | 5661738 | Missense_Mutation | G | A | p.R691H |
| OC314_OVARY | 5661529 | 5661819 | 5661738 | 5661738 | Missense_Mutation | G | A | p.R691H |
| HCC366_LUNG | 5661532 | 5661819 | 5661743 | 5661743 | Missense_Mutation | G | C | p.E693Q |
| HCC366_LUNG | 5661499 | 5661819 | 5661743 | 5661743 | Missense_Mutation | G | C | p.E693Q |
| HCC366_LUNG | 5661529 | 5661819 | 5661743 | 5661743 | Missense_Mutation | G | C | p.E693Q |
| HMCB_SKIN | 5661532 | 5661819 | 5661758 | 5661758 | Missense_Mutation | C | A | p.Q698K |
| HMCB_SKIN | 5661499 | 5661819 | 5661758 | 5661758 | Missense_Mutation | C | A | p.Q698K |
| HMCB_SKIN | 5661529 | 5661819 | 5661758 | 5661758 | Missense_Mutation | C | A | p.Q698K |
| MFE319_ENDOMETRIUM | 5661532 | 5661819 | 5661792 | 5661792 | Missense_Mutation | C | T | p.A709V |
| MFE319_ENDOMETRIUM | 5661499 | 5661819 | 5661792 | 5661792 | Missense_Mutation | C | T | p.A709V |
| MFE319_ENDOMETRIUM | 5661529 | 5661819 | 5661792 | 5661792 | Missense_Mutation | C | T | p.A709V |
| CAOV3_OVARY | 5661532 | 5661819 | 5661798 | 5661798 | Missense_Mutation | G | A | p.R711Q |
| CAOV3_OVARY | 5661499 | 5661819 | 5661798 | 5661798 | Missense_Mutation | G | A | p.R711Q |
| CAOV3_OVARY | 5661529 | 5661819 | 5661798 | 5661798 | Missense_Mutation | G | A | p.R711Q |
| HT55_LARGE_INTESTINE | 5661532 | 5661819 | 5661815 | 5661815 | Missense_Mutation | G | A | p.D717N |
| HT55_LARGE_INTESTINE | 5661499 | 5661819 | 5661815 | 5661815 | Missense_Mutation | G | A | p.D717N |
| HT55_LARGE_INTESTINE | 5661529 | 5661819 | 5661815 | 5661815 | Missense_Mutation | G | A | p.D717N |
| SCC4_UPPER_AERODIGESTIVE_TRACT | 5667364 | 5667461 | 5667387 | 5667387 | Missense_Mutation | G | A | p.R826Q |
| SCC4_UPPER_AERODIGESTIVE_TRACT | 5667358 | 5667461 | 5667387 | 5667387 | Missense_Mutation | G | A | p.R826Q |
| HUPT4_PANCREAS | 5667364 | 5667461 | 5667425 | 5667425 | Missense_Mutation | G | A | p.G839R |
| HUPT4_PANCREAS | 5667358 | 5667461 | 5667425 | 5667425 | Missense_Mutation | G | A | p.G839R |
| NCIH69_LUNG | 5667364 | 5667461 | 5667426 | 5667426 | Missense_Mutation | G | A | p.G839E |
| NCIH69_LUNG | 5667358 | 5667461 | 5667426 | 5667426 | Missense_Mutation | G | A | p.G839E |
| OVK18_OVARY | 5667364 | 5667461 | 5667432 | 5667432 | Missense_Mutation | T | G | p.M841R |
| OVK18_OVARY | 5667358 | 5667461 | 5667432 | 5667432 | Missense_Mutation | T | G | p.M841R |
| BHT101_THYROID | 5653126 | 5653275 | 5653243 | 5653243 | Nonsense_Mutation | G | T | p.E471* |
| HEC6_ENDOMETRIUM | 5661532 | 5661819 | 5661611 | 5661611 | Nonsense_Mutation | C | T | p.R649* |
| HEC6_ENDOMETRIUM | 5661499 | 5661819 | 5661611 | 5661611 | Nonsense_Mutation | C | T | p.R649* |
| HEC6_ENDOMETRIUM | 5661529 | 5661819 | 5661611 | 5661611 | Nonsense_Mutation | C | T | p.R649* |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5664408 | 5664450 | 5664439 | 5664439 | Nonsense_Mutation | C | T | p.R775* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SAFB |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SAFB |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SAFB |
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RelatedDrugs for SAFB |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SAFB |
| 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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