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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 RSF1 |
 Gene summary |
| Gene information | Gene symbol | RSF1 | Gene ID | 51773 |
| Gene name | remodeling and spacing factor 1 | |
| Synonyms | HBXAP|RSF-1|XAP8|p325 | |
| Cytomap | 11q14.1 | |
| Type of gene | protein-coding | |
| Description | remodeling and spacing factor 1HBV pX-associated protein 8hepatitis B virus x-associated proteinp325 subunit of RSF chromatin-remodeling complex | |
| Modification date | 20180523 | |
| UniProtAcc | Q96T23 | |
| Context | PubMed: RSF1 [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 |
| RSF1 | GO:0006334 | nucleosome assembly | 12972596 |
| RSF1 | GO:0006338 | chromatin remodeling | 9836642 |
| RSF1 | GO:0006352 | DNA-templated transcription, initiation | 9836642 |
| RSF1 | GO:0016584 | nucleosome positioning | 9836642 |
| RSF1 | GO:0043392 | negative regulation of DNA binding | 12972596 |
| RSF1 | GO:0045892 | negative regulation of transcription, DNA-templated | 11944984 |
| RSF1 | GO:0045893 | positive regulation of transcription, DNA-templated | 11788598 |
| RSF1 | GO:0050434 | positive regulation of viral transcription | 11788598 |
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Exon skipping events across known transcript of Ensembl for RSF1 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 RSF1 |
| 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 RSF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_75981 | 11 | 77377274:77378536:77383086:77383275:77386080:77386301 | 77383086:77383275 | ENSG00000048649.9 | ENST00000308488.6,ENST00000480887.1,ENST00000360355.2 |
| exon_skip_75984 | 11 | 77394813:77394864:77396149:77396204:77402203:77402283 | 77396149:77396204 | ENSG00000048649.9 | ENST00000531026.1,ENST00000308488.6,ENST00000480887.1,ENST00000526324.1,ENST00000360355.2 |
| exon_skip_75985 | 11 | 77402203:77402283:77404551:77404656:77409531:77409573 | 77404551:77404656 | ENSG00000048649.9 | ENST00000531026.1,ENST00000308488.6,ENST00000480887.1,ENST00000526324.1,ENST00000531768.1,ENST00000360355.2 |
| exon_skip_75990 | 11 | 77409531:77409738:77411765:77413540:77436589:77436725 | 77411765:77413540 | ENSG00000048649.9 | ENST00000308488.6,ENST00000526324.1,ENST00000360355.2 |
| exon_skip_75991 | 11 | 77413445:77413540:77436589:77436744:77451775:77451981 | 77436589:77436744 | ENSG00000048649.9 | ENST00000308488.6,ENST00000528095.1,ENST00000360355.2 |
| exon_skip_75992 | 11 | 77436617:77436744:77451775:77451981:77458080:77458173 | 77451775:77451981 | ENSG00000048649.9 | ENST00000308488.6,ENST00000528095.1 |
| exon_skip_75993 | 11 | 77436617:77436744:77451775:77451981:77475642:77475734 | 77451775:77451981 | ENSG00000048649.9 | ENST00000440064.2,ENST00000360355.2 |
| exon_skip_75995 | 11 | 77451775:77451981:77458080:77458173:77475642:77475734 | 77458080:77458173 | ENSG00000048649.9 | ENST00000308488.6,ENST00000528095.1,ENST00000534794.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RSF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_75981 | 11 | 77377274:77378536:77383086:77383275:77386080:77386301 | 77383086:77383275 | ENSG00000048649.9 | ENST00000308488.6,ENST00000480887.1,ENST00000360355.2 |
| exon_skip_75984 | 11 | 77394813:77394864:77396149:77396204:77402203:77402283 | 77396149:77396204 | ENSG00000048649.9 | ENST00000308488.6,ENST00000480887.1,ENST00000360355.2,ENST00000531026.1,ENST00000526324.1 |
| exon_skip_75985 | 11 | 77402203:77402283:77404551:77404656:77409531:77409573 | 77404551:77404656 | ENSG00000048649.9 | ENST00000308488.6,ENST00000480887.1,ENST00000360355.2,ENST00000531026.1,ENST00000526324.1,ENST00000531768.1 |
| exon_skip_75990 | 11 | 77409531:77409738:77411765:77413540:77436589:77436725 | 77411765:77413540 | ENSG00000048649.9 | ENST00000308488.6,ENST00000360355.2,ENST00000526324.1 |
| exon_skip_75991 | 11 | 77413445:77413540:77436589:77436744:77451775:77451981 | 77436589:77436744 | ENSG00000048649.9 | ENST00000308488.6,ENST00000360355.2,ENST00000528095.1 |
| exon_skip_75992 | 11 | 77436617:77436744:77451775:77451981:77458080:77458173 | 77451775:77451981 | ENSG00000048649.9 | ENST00000308488.6,ENST00000528095.1 |
| exon_skip_75993 | 11 | 77436617:77436744:77451775:77451981:77475642:77475734 | 77451775:77451981 | ENSG00000048649.9 | ENST00000360355.2,ENST00000440064.2 |
| exon_skip_75995 | 11 | 77451775:77451981:77458080:77458173:77475642:77475734 | 77458080:77458173 | ENSG00000048649.9 | ENST00000308488.6,ENST00000528095.1,ENST00000534794.1 |
| 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 RSF1 |
| 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 |
| ENST00000308488 | 77396149 | 77396204 | Frame-shift |
| ENST00000308488 | 77411765 | 77413540 | Frame-shift |
| ENST00000308488 | 77436589 | 77436744 | Frame-shift |
| ENST00000308488 | 77451775 | 77451981 | Frame-shift |
| ENST00000308488 | 77383086 | 77383275 | In-frame |
| ENST00000308488 | 77404551 | 77404656 | In-frame |
| ENST00000308488 | 77458080 | 77458173 | 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 |
| ENST00000308488 | 77396149 | 77396204 | Frame-shift |
| ENST00000308488 | 77411765 | 77413540 | Frame-shift |
| ENST00000308488 | 77436589 | 77436744 | Frame-shift |
| ENST00000308488 | 77451775 | 77451981 | Frame-shift |
| ENST00000308488 | 77383086 | 77383275 | In-frame |
| ENST00000308488 | 77404551 | 77404656 | In-frame |
| ENST00000308488 | 77458080 | 77458173 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RSF1 |
| 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 |
| ENST00000308488 | 11567 | 1441 | 77458080 | 77458173 | 583 | 675 | 93 | 124 |
| ENST00000308488 | 11567 | 1441 | 77404551 | 77404656 | 3019 | 3123 | 905 | 940 |
| ENST00000308488 | 11567 | 1441 | 77383086 | 77383275 | 3866 | 4054 | 1187 | 1250 |
| 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 |
| ENST00000308488 | 11567 | 1441 | 77458080 | 77458173 | 583 | 675 | 93 | 124 |
| ENST00000308488 | 11567 | 1441 | 77404551 | 77404656 | 3019 | 3123 | 905 | 940 |
| ENST00000308488 | 11567 | 1441 | 77383086 | 77383275 | 3866 | 4054 | 1187 | 1250 |
| 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 |
| Q96T23 | 93 | 124 | 1 | 252 | Alternative sequence | ID=VSP_012499;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11788598,ECO:0000303|PubMed:11944984;Dbxref=PMID:11788598,PMID:11944984 |
| Q96T23 | 93 | 124 | 93 | 123 | Alternative sequence | ID=VSP_012500;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11944984;Dbxref=PMID:11944984 |
| Q96T23 | 93 | 124 | 1 | 1441 | Chain | ID=PRO_0000059326;Note=Remodeling and spacing factor 1 |
| Q96T23 | 905 | 940 | 1 | 1441 | Chain | ID=PRO_0000059326;Note=Remodeling and spacing factor 1 |
| Q96T23 | 905 | 940 | 891 | 941 | Zinc finger | Note=PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 |
| Q96T23 | 1187 | 1250 | 1 | 1441 | Chain | ID=PRO_0000059326;Note=Remodeling and spacing factor 1 |
| Q96T23 | 1187 | 1250 | 1146 | 1243 | Compositional bias | Note=Arg-rich |
| Q96T23 | 1187 | 1250 | 1221 | 1221 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:21406692 |
| Q96T23 | 1187 | 1250 | 1223 | 1223 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q96T23 | 1187 | 1250 | 1226 | 1226 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:21406692 |
| 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 |
| Q96T23 | 93 | 124 | 1 | 252 | Alternative sequence | ID=VSP_012499;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11788598,ECO:0000303|PubMed:11944984;Dbxref=PMID:11788598,PMID:11944984 |
| Q96T23 | 93 | 124 | 93 | 123 | Alternative sequence | ID=VSP_012500;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11944984;Dbxref=PMID:11944984 |
| Q96T23 | 93 | 124 | 1 | 1441 | Chain | ID=PRO_0000059326;Note=Remodeling and spacing factor 1 |
| Q96T23 | 905 | 940 | 1 | 1441 | Chain | ID=PRO_0000059326;Note=Remodeling and spacing factor 1 |
| Q96T23 | 905 | 940 | 891 | 941 | Zinc finger | Note=PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 |
| Q96T23 | 1187 | 1250 | 1 | 1441 | Chain | ID=PRO_0000059326;Note=Remodeling and spacing factor 1 |
| Q96T23 | 1187 | 1250 | 1146 | 1243 | Compositional bias | Note=Arg-rich |
| Q96T23 | 1187 | 1250 | 1221 | 1221 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:21406692 |
| Q96T23 | 1187 | 1250 | 1223 | 1223 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q96T23 | 1187 | 1250 | 1226 | 1226 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:21406692 |
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SNVs in the skipped exons for RSF1 |
| - 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. |
RSF1_COAD_exon_skip_75990_psi_boxplot.png |
RSF1_LGG_exon_skip_75990_psi_boxplot.png |
RSF1_STAD_exon_skip_75990_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 |
| LIHC | TCGA-4R-AA8I-01 | exon_skip_75990 | 77411766 | 77413540 | 77411876 | 77411876 | Frame_Shift_Del | T | - | p.R800fs |
| STAD | TCGA-BR-8361-01 | exon_skip_75990 | 77411766 | 77413540 | 77411876 | 77411876 | Frame_Shift_Del | T | - | p.R800fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_75990 | 77411766 | 77413540 | 77411950 | 77411950 | Frame_Shift_Del | A | - | p.L775fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_75990 | 77411766 | 77413540 | 77411983 | 77411983 | Frame_Shift_Del | T | - | p.K764fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_75990 | 77411766 | 77413540 | 77412004 | 77412004 | Frame_Shift_Del | T | - | p.N757fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_75990 | 77411766 | 77413540 | 77412024 | 77412024 | Frame_Shift_Del | G | - | p.P750fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_75990 | 77411766 | 77413540 | 77412043 | 77412043 | Frame_Shift_Del | T | - | p.K745fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_75990 | 77411766 | 77413540 | 77412229 | 77412229 | Frame_Shift_Del | T | - | p.N682fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_75990 | 77411766 | 77413540 | 77412285 | 77412285 | Frame_Shift_Del | T | - | p.K663fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_75990 | 77411766 | 77413540 | 77412538 | 77412538 | Frame_Shift_Del | G | - | p.P580fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_75990 | 77411766 | 77413540 | 77412557 | 77412557 | Frame_Shift_Del | T | - | p.T573fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_75990 | 77411766 | 77413540 | 77412696 | 77412696 | Frame_Shift_Del | T | - | p.K526fs |
| PAAD | TCGA-IB-7889-01 | exon_skip_75990 | 77411766 | 77413540 | 77412696 | 77412696 | Frame_Shift_Del | T | - | p.K526fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_75990 | 77411766 | 77413540 | 77413116 | 77413116 | Frame_Shift_Del | T | - | p.K386fs |
| STAD | TCGA-BR-8081-01 | exon_skip_75990 | 77411766 | 77413540 | 77413116 | 77413116 | Frame_Shift_Del | T | - | p.R387fs |
| STAD | TCGA-CG-4442-01 | exon_skip_75990 | 77411766 | 77413540 | 77413116 | 77413116 | Frame_Shift_Del | T | - | p.K386fs |
| STAD | TCGA-CG-4442-01 | exon_skip_75990 | 77411766 | 77413540 | 77413116 | 77413116 | Frame_Shift_Del | T | - | p.R387fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_75990 | 77411766 | 77413540 | 77413116 | 77413116 | Frame_Shift_Del | T | - | p.R387fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_75990 | 77411766 | 77413540 | 77413147 | 77413147 | Frame_Shift_Del | T | - | p.N376fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_75991 | 77436590 | 77436744 | 77436612 | 77436612 | Frame_Shift_Del | T | - | p.K237fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_75991 | 77436590 | 77436744 | 77436612 | 77436612 | Frame_Shift_Del | T | - | p.K237fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_75991 | 77436590 | 77436744 | 77436676 | 77436676 | Frame_Shift_Del | T | - | p.N216fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_75990 | 77411766 | 77413540 | 77412023 | 77412024 | Frame_Shift_Ins | - | G | p.P750fs |
| UCEC | TCGA-BG-A0M9-01 | exon_skip_75990 | 77411766 | 77413540 | 77412023 | 77412024 | Frame_Shift_Ins | - | G | p.P750fs |
| LGG | TCGA-DU-6392-01 | exon_skip_75990 | 77411766 | 77413540 | 77412163 | 77412164 | Frame_Shift_Ins | - | T | p.Q704fs |
| COAD | TCGA-G4-6628-01 | exon_skip_75990 | 77411766 | 77413540 | 77412284 | 77412285 | Frame_Shift_Ins | - | T | p.V664fs |
| LGG | TCGA-DU-6392-01 | exon_skip_75981 | 77383087 | 77383275 | 77383090 | 77383090 | Nonsense_Mutation | C | A | p.E1250* |
| COAD | TCGA-AD-5900-01 | exon_skip_75981 | 77383087 | 77383275 | 77383147 | 77383147 | Nonsense_Mutation | G | A | p.R1231X |
| STAD | TCGA-BR-6852-01 | exon_skip_75981 | 77383087 | 77383275 | 77383228 | 77383228 | Nonsense_Mutation | G | A | p.R1204* |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_75990 | 77411766 | 77413540 | 77411876 | 77411876 | Nonsense_Mutation | T | A | p.R800* |
| STAD | TCGA-BR-8680-01 | exon_skip_75990 | 77411766 | 77413540 | 77412131 | 77412131 | Nonsense_Mutation | C | A | p.E715* |
| STAD | TCGA-BR-8680-01 | exon_skip_75990 | 77411766 | 77413540 | 77412131 | 77412131 | Nonsense_Mutation | C | A | p.E715X |
| KIRC | TCGA-BP-5198-01 | exon_skip_75990 | 77411766 | 77413540 | 77412360 | 77412360 | Nonsense_Mutation | A | T | p.C638* |
| KIRC | TCGA-BP-5198-01 | exon_skip_75990 | 77411766 | 77413540 | 77412360 | 77412360 | Nonsense_Mutation | A | T | p.C638X |
| LUAD | TCGA-50-5930-01 | exon_skip_75990 | 77411766 | 77413540 | 77413235 | 77413235 | Nonsense_Mutation | C | A | p.E347* |
| SKCM | TCGA-FS-A4F5-06 | exon_skip_75991 | 77436590 | 77436744 | 77436740 | 77436740 | Nonsense_Mutation | G | A | p.R195* |
| SKCM | TCGA-FS-A4F5-06 | exon_skip_75991 | 77436590 | 77436744 | 77436740 | 77436740 | Nonsense_Mutation | G | A | p.R195X |
| SKCM | TCGA-D3-A8GN-06 | exon_skip_75992 exon_skip_75993 | 77451776 | 77451981 | 77451794 | 77451794 | Nonsense_Mutation | G | T | p.S187* |
| SKCM | TCGA-EE-A29D-06 | exon_skip_75995 | 77458081 | 77458173 | 77458147 | 77458147 | Nonsense_Mutation | C | T | p.W102* |
| CESC | TCGA-EX-A69L-01 | exon_skip_75991 | 77436590 | 77436744 | 77436745 | 77436745 | Splice_Site | C | G | e5-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BR-8081-01 |
| Cancer type: STAD | |
| ESID: exon_skip_75990 | |
| Skipped exon start: 77411766 | |
| Skipped exon end: 77413540 | |
| Mutation start: 77413116 | |
| Mutation end: 77413116 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.R387fs | |
exon_skip_105957_STAD_TCGA-BR-8081-01.png | |
exon_skip_105958_STAD_TCGA-BR-8081-01.png | |
exon_skip_148026_STAD_TCGA-BR-8081-01.png | |
exon_skip_349801_STAD_TCGA-BR-8081-01.png | |
exon_skip_360490_STAD_TCGA-BR-8081-01.png | |
exon_skip_454428_STAD_TCGA-BR-8081-01.png | |
exon_skip_454431_STAD_TCGA-BR-8081-01.png | |
exon_skip_454433_STAD_TCGA-BR-8081-01.png | |
exon_skip_57703_STAD_TCGA-BR-8081-01.png | |
exon_skip_75990_STAD_TCGA-BR-8081-01.png | |
exon_skip_94164_STAD_TCGA-BR-8081-01.png | |
exon_skip_94165_STAD_TCGA-BR-8081-01.png | |
exon_skip_95877_STAD_TCGA-BR-8081-01.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 |
| KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77411766 | 77413540 | 77411799 | 77411799 | Frame_Shift_Del | T | - | p.K825fs |
| 22RV1_PROSTATE | 77411766 | 77413540 | 77411876 | 77411876 | Frame_Shift_Del | T | - | p.R800fs |
| OC316_OVARY | 77411766 | 77413540 | 77413116 | 77413116 | Frame_Shift_Del | T | - | p.K386fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77411766 | 77413540 | 77413116 | 77413116 | Frame_Shift_Del | T | - | p.K386fs |
| KM12_LARGE_INTESTINE | 77411766 | 77413540 | 77413116 | 77413116 | Frame_Shift_Del | T | - | p.K386fs |
| CL34_LARGE_INTESTINE | 77411766 | 77413540 | 77413116 | 77413116 | Frame_Shift_Del | T | - | p.K386fs |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77411766 | 77413540 | 77413116 | 77413116 | Frame_Shift_Del | T | - | p.K386fs |
| OC314_OVARY | 77411766 | 77413540 | 77413116 | 77413116 | Frame_Shift_Del | T | - | p.K386fs |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77411766 | 77413540 | 77413116 | 77413116 | Frame_Shift_Del | T | - | p.K386fs |
| MDAMB361_BREAST | 77411766 | 77413540 | 77411824 | 77411825 | Frame_Shift_Ins | - | T | p.T817fs |
| NCIH69_LUNG | 77411766 | 77413540 | 77411875 | 77411876 | Frame_Shift_Ins | - | T | p.R800fs |
| TO175T_FIBROBLAST | 77383087 | 77383275 | 77383113 | 77383113 | Missense_Mutation | C | T | p.R1242Q |
| HGC27_STOMACH | 77383087 | 77383275 | 77383161 | 77383161 | Missense_Mutation | G | A | p.S1226F |
| KMBC2_URINARY_TRACT | 77383087 | 77383275 | 77383165 | 77383165 | Missense_Mutation | C | T | p.G1225S |
| BICR6_UPPER_AERODIGESTIVE_TRACT | 77383087 | 77383275 | 77383209 | 77383209 | Missense_Mutation | T | C | p.N1210S |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77383087 | 77383275 | 77383222 | 77383222 | Missense_Mutation | G | A | p.R1206W |
| SISO_CERVIX | 77396150 | 77396204 | 77396196 | 77396196 | Missense_Mutation | C | T | p.R970H |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77396150 | 77396204 | 77396196 | 77396196 | Missense_Mutation | C | T | p.R970H |
| KYSE30_OESOPHAGUS | 77411766 | 77413540 | 77411779 | 77411779 | Missense_Mutation | G | C | p.S832C |
| SNU349_KIDNEY | 77411766 | 77413540 | 77411798 | 77411798 | Missense_Mutation | A | G | p.S826P |
| KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77411766 | 77413540 | 77411827 | 77411827 | Missense_Mutation | T | C | p.K816R |
| KP4_PANCREAS | 77411766 | 77413540 | 77411837 | 77411837 | Missense_Mutation | C | G | p.A813P |
| NCIH2023_LUNG | 77411766 | 77413540 | 77412052 | 77412052 | Missense_Mutation | C | T | p.S741N |
| NCIH2291_LUNG | 77411766 | 77413540 | 77412196 | 77412196 | Missense_Mutation | T | C | p.E693G |
| BT474_BREAST | 77411766 | 77413540 | 77412386 | 77412386 | Missense_Mutation | G | A | p.P630S |
| CA922_UPPER_AERODIGESTIVE_TRACT | 77411766 | 77413540 | 77412523 | 77412523 | Missense_Mutation | C | T | p.C584Y |
| SNU81_LARGE_INTESTINE | 77411766 | 77413540 | 77412565 | 77412565 | Missense_Mutation | G | A | p.S570F |
| C84_LARGE_INTESTINE | 77411766 | 77413540 | 77412569 | 77412569 | Missense_Mutation | T | G | p.K569Q |
| H290_PLEURA | 77411766 | 77413540 | 77412601 | 77412601 | Missense_Mutation | G | A | p.S558F |
| IHH4_THYROID | 77411766 | 77413540 | 77412632 | 77412632 | Missense_Mutation | T | C | p.K548E |
| HEC251_ENDOMETRIUM | 77411766 | 77413540 | 77412740 | 77412740 | Missense_Mutation | C | A | p.D512Y |
| RCCAB_KIDNEY | 77411766 | 77413540 | 77412845 | 77412845 | Missense_Mutation | C | A | p.D477Y |
| PANC0327_PANCREAS | 77411766 | 77413540 | 77413303 | 77413303 | Missense_Mutation | A | G | p.V324A |
| SMSCTR_SOFT_TISSUE | 77411766 | 77413540 | 77413388 | 77413388 | Missense_Mutation | C | G | p.E296Q |
| HEC6_ENDOMETRIUM | 77411766 | 77413540 | 77413450 | 77413450 | Missense_Mutation | G | A | p.T275I |
| HCT15_LARGE_INTESTINE | 77411766 | 77413540 | 77413506 | 77413506 | Missense_Mutation | C | A | p.E256D |
| TT2609C02_THYROID | 77411766 | 77413540 | 77413513 | 77413513 | Missense_Mutation | T | C | p.K254R |
| SNU1040_LARGE_INTESTINE | 77451776 | 77451981 | 77451779 | 77451779 | Missense_Mutation | A | G | p.V192A |
| MDAMB453_BREAST | 77451776 | 77451981 | 77451833 | 77451833 | Missense_Mutation | C | T | p.R174K |
| SNU719_STOMACH | 77451776 | 77451981 | 77451926 | 77451926 | Missense_Mutation | T | C | p.E143G |
| EN_ENDOMETRIUM | 77451776 | 77451981 | 77451975 | 77451975 | Missense_Mutation | A | G | p.C127R |
| IHH4_THYROID | 77411766 | 77413540 | 77412424 | 77412424 | Nonsense_Mutation | G | C | p.S617* |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 77396150 | 77396204 | 77396204 | 77396204 | Splice_Site | T | C | p.R967R |
| SW13_ADRENAL_CORTEX | 77411766 | 77413540 | 77411766 | 77411766 | Splice_Site | C | G | p.K836N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RSF1 |
| 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 RSF1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RSF1 |
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RelatedDrugs for RSF1 |
| 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 RSF1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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