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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 SF3B1 |
 Gene summary |
| Gene information | Gene symbol | SF3B1 | Gene ID | 23451 |
| Gene name | splicing factor 3b subunit 1 | |
| Synonyms | Hsh155|MDS|PRP10|PRPF10|SAP155|SF3b155 | |
| Cytomap | 2q33.1 | |
| Type of gene | protein-coding | |
| Description | splicing factor 3B subunit 1pre-mRNA processing 10pre-mRNA splicing factor SF3b, 155 kDa subunitspliceosome-associated protein 155splicing factor 3b, subunit 1, 155kDa | |
| Modification date | 20180527 | |
| UniProtAcc | O75533 | |
| Context | PubMed: SF3B1 [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 |
| SF3B1 | GO:0000398 | mRNA splicing, via spliceosome | 11252167|28781166 |
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Exon skipping events across known transcript of Ensembl for SF3B1 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 SF3B1 |
| 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 SF3B1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_345798 | 2 | 198256978:198257185:198257695:198257912:198260779:198261052 | 198257695:198257912 | ENSG00000115524.11 | ENST00000335508.6 |
| exon_skip_345799 | 2 | 198260779:198261052:198262708:198262840:198263184:198263305 | 198262708:198262840 | ENSG00000115524.11 | ENST00000335508.6,ENST00000424674.1 |
| exon_skip_345800 | 2 | 198262708:198262840:198263184:198263305:198264778:198264890 | 198263184:198263305 | ENSG00000115524.11 | ENST00000335508.6 |
| exon_skip_345802 | 2 | 198273092:198273305:198274493:198274731:198281464:198281635 | 198274493:198274731 | ENSG00000115524.11 | ENST00000335508.6 |
| exon_skip_345803 | 2 | 198274506:198274731:198281464:198281635:198283232:198283312 | 198281464:198281635 | ENSG00000115524.11 | ENST00000335508.6,ENST00000470268.1 |
| exon_skip_345804 | 2 | 198283232:198283312:198283619:198283675:198285151:198285266 | 198283619:198283675 | ENSG00000115524.11 | ENST00000409915.4 |
| exon_skip_345806 | 2 | 198285752:198285857:198288531:198288698:198299695:198299740 | 198288531:198288698 | ENSG00000115524.11 | ENST00000414963.2,ENST00000487698.1,ENST00000409915.4 |
| exon_skip_345807 | 2 | 198285752:198285857:198288617:198288698:198299695:198299740 | 198288617:198288698 | ENSG00000115524.11 | ENST00000414174.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SF3B1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_345798 | 2 | 198256978:198257185:198257695:198257912:198260779:198261052 | 198257695:198257912 | ENSG00000115524.11 | ENST00000335508.6 |
| exon_skip_345799 | 2 | 198260779:198261052:198262708:198262840:198263184:198263305 | 198262708:198262840 | ENSG00000115524.11 | ENST00000335508.6,ENST00000424674.1 |
| exon_skip_345800 | 2 | 198262708:198262840:198263184:198263305:198264778:198264890 | 198263184:198263305 | ENSG00000115524.11 | ENST00000335508.6 |
| exon_skip_345802 | 2 | 198273092:198273305:198274493:198274731:198281464:198281635 | 198274493:198274731 | ENSG00000115524.11 | ENST00000335508.6 |
| exon_skip_345803 | 2 | 198274506:198274731:198281464:198281635:198283232:198283312 | 198281464:198281635 | ENSG00000115524.11 | ENST00000335508.6,ENST00000470268.1 |
| exon_skip_345804 | 2 | 198283232:198283312:198283619:198283675:198285151:198285266 | 198283619:198283675 | ENSG00000115524.11 | ENST00000409915.4 |
| exon_skip_345806 | 2 | 198285752:198285857:198288531:198288698:198299695:198299740 | 198288531:198288698 | ENSG00000115524.11 | ENST00000409915.4,ENST00000487698.1,ENST00000414963.2 |
| exon_skip_345807 | 2 | 198285752:198285857:198288617:198288698:198299695:198299740 | 198288617:198288698 | ENSG00000115524.11 | ENST00000414174.1 |
| 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 SF3B1 |
| 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 |
| ENST00000335508 | 198257695 | 198257912 | Frame-shift |
| ENST00000335508 | 198263184 | 198263305 | Frame-shift |
| ENST00000335508 | 198274493 | 198274731 | Frame-shift |
| ENST00000335508 | 198262708 | 198262840 | In-frame |
| ENST00000335508 | 198281464 | 198281635 | 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 |
| ENST00000335508 | 198257695 | 198257912 | Frame-shift |
| ENST00000335508 | 198263184 | 198263305 | Frame-shift |
| ENST00000335508 | 198274493 | 198274731 | Frame-shift |
| ENST00000335508 | 198262708 | 198262840 | In-frame |
| ENST00000335508 | 198281464 | 198281635 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SF3B1 |
| 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 |
| ENST00000335508 | 6543 | 1304 | 198281464 | 198281635 | 588 | 758 | 165 | 222 |
| ENST00000335508 | 6543 | 1304 | 198262708 | 198262840 | 3227 | 3358 | 1045 | 1088 |
| 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 |
| ENST00000335508 | 6543 | 1304 | 198281464 | 198281635 | 588 | 758 | 165 | 222 |
| ENST00000335508 | 6543 | 1304 | 198262708 | 198262840 | 3227 | 3358 | 1045 | 1088 |
| 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 |
| O75533 | 165 | 222 | 145 | 1304 | Alternative sequence | ID=VSP_046183;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| O75533 | 165 | 222 | 1 | 1304 | Chain | ID=PRO_0000174323;Note=Splicing factor 3B subunit 1 |
| O75533 | 165 | 222 | 214 | 214 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| O75533 | 165 | 222 | 194 | 194 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 |
| O75533 | 165 | 222 | 203 | 203 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| O75533 | 165 | 222 | 207 | 207 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMI |
| O75533 | 165 | 222 | 211 | 211 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,EC |
| O75533 | 165 | 222 | 214 | 214 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99NB9 |
| O75533 | 165 | 222 | 200 | 200 | Mutagenesis | Note=Abolishes interaction with RBM39%3B when associated with A-218%3B A-232%3B A-254%3B A-293%3B A-310 and A-338. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24795046;Dbxref=PMID:24795046 |
| O75533 | 165 | 222 | 218 | 218 | Mutagenesis | Note=Abolishes interaction with RBM39%3B when associated with A-200%3B A-232%3B A-254%3B A-293%3B A-310 and A-338. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24795046;Dbxref=PMID:24795046 |
| O75533 | 165 | 222 | 190 | 342 | Region | Note=U2AF homology region%3B mediates interaction with RBM39;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24795046;Dbxref=PMID:24795046 |
| O75533 | 1045 | 1088 | 145 | 1304 | Alternative sequence | ID=VSP_046183;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| O75533 | 1045 | 1088 | 1 | 1304 | Chain | ID=PRO_0000174323;Note=Splicing factor 3B subunit 1 |
| O75533 | 1045 | 1088 | 1029 | 1045 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFE |
| O75533 | 1045 | 1088 | 1047 | 1049 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFE |
| O75533 | 1045 | 1088 | 1052 | 1062 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFE |
| O75533 | 1045 | 1088 | 1063 | 1067 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFE |
| O75533 | 1045 | 1088 | 1071 | 1088 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFE |
| O75533 | 1045 | 1088 | 1010 | 1048 | Repeat | Note=HEAT 8 |
| O75533 | 1045 | 1088 | 1052 | 1090 | Repeat | Note=HEAT 9 |
| O75533 | 1045 | 1088 | 1049 | 1049 | Site | Note=Interaction with RNA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27720643;Dbxref=PMID:27720643 |
| 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 |
| O75533 | 165 | 222 | 145 | 1304 | Alternative sequence | ID=VSP_046183;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| O75533 | 165 | 222 | 1 | 1304 | Chain | ID=PRO_0000174323;Note=Splicing factor 3B subunit 1 |
| O75533 | 165 | 222 | 214 | 214 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| O75533 | 165 | 222 | 194 | 194 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 |
| O75533 | 165 | 222 | 203 | 203 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| O75533 | 165 | 222 | 207 | 207 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMI |
| O75533 | 165 | 222 | 211 | 211 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,EC |
| O75533 | 165 | 222 | 214 | 214 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99NB9 |
| O75533 | 165 | 222 | 200 | 200 | Mutagenesis | Note=Abolishes interaction with RBM39%3B when associated with A-218%3B A-232%3B A-254%3B A-293%3B A-310 and A-338. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24795046;Dbxref=PMID:24795046 |
| O75533 | 165 | 222 | 218 | 218 | Mutagenesis | Note=Abolishes interaction with RBM39%3B when associated with A-200%3B A-232%3B A-254%3B A-293%3B A-310 and A-338. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24795046;Dbxref=PMID:24795046 |
| O75533 | 165 | 222 | 190 | 342 | Region | Note=U2AF homology region%3B mediates interaction with RBM39;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24795046;Dbxref=PMID:24795046 |
| O75533 | 1045 | 1088 | 145 | 1304 | Alternative sequence | ID=VSP_046183;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| O75533 | 1045 | 1088 | 1 | 1304 | Chain | ID=PRO_0000174323;Note=Splicing factor 3B subunit 1 |
| O75533 | 1045 | 1088 | 1029 | 1045 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFE |
| O75533 | 1045 | 1088 | 1047 | 1049 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFE |
| O75533 | 1045 | 1088 | 1052 | 1062 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFE |
| O75533 | 1045 | 1088 | 1063 | 1067 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFE |
| O75533 | 1045 | 1088 | 1071 | 1088 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFE |
| O75533 | 1045 | 1088 | 1010 | 1048 | Repeat | Note=HEAT 8 |
| O75533 | 1045 | 1088 | 1052 | 1090 | Repeat | Note=HEAT 9 |
| O75533 | 1045 | 1088 | 1049 | 1049 | Site | Note=Interaction with RNA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27720643;Dbxref=PMID:27720643 |
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SNVs in the skipped exons for SF3B1 |
| - 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. |
SF3B1_BRCA_exon_skip_345802_psi_boxplot.png |
SF3B1_LIHC_exon_skip_345802_psi_boxplot.png |
SF3B1_LUAD_exon_skip_345802_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-DD-A3A0-01 | exon_skip_345799 | 198262709 | 198262840 | 198262763 | 198262763 | Frame_Shift_Del | T | - | p.K1071fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_345799 | 198262709 | 198262840 | 198262795 | 198262795 | Frame_Shift_Del | A | - | p.F1060fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_345802 | 198274494 | 198274731 | 198274503 | 198274503 | Frame_Shift_Del | T | - | p.T299fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_345802 | 198274494 | 198274731 | 198274526 | 198274526 | Frame_Shift_Del | T | - | p.N291fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_345803 | 198281465 | 198281635 | 198281585 | 198281585 | Frame_Shift_Del | T | - | p.K182fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_345803 | 198281465 | 198281635 | 198281606 | 198281606 | Frame_Shift_Del | T | - | p.K175fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_345806 | 198288532 | 198288698 | 198288632 | 198288632 | Frame_Shift_Del | C | - | p.G32fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_345807 | 198288618 | 198288698 | 198288632 | 198288632 | Frame_Shift_Del | C | - | p.G32fs |
| BRCA | TCGA-A8-A075-01 | exon_skip_345802 | 198274494 | 198274731 | 198274677 | 198274677 | Nonsense_Mutation | C | A | p.G241* |
| LUAD | TCGA-62-A46O-01 | exon_skip_345802 | 198274494 | 198274731 | 198274703 | 198274703 | Nonsense_Mutation | C | T | p.W232* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_345806 | 198288532 | 198288698 | 198288678 | 198288678 | Nonsense_Mutation | C | A | p.E17* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_345807 | 198288618 | 198288698 | 198288678 | 198288678 | Nonsense_Mutation | C | A | p.E17* |
| LUSC | TCGA-22-5473-01 | exon_skip_345806 | 198288532 | 198288698 | 198288681 | 198288681 | Nonsense_Mutation | G | A | p.R16* |
| LUSC | TCGA-22-5473-01 | exon_skip_345807 | 198288618 | 198288698 | 198288681 | 198288681 | Nonsense_Mutation | G | A | p.R16* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-A8-A075-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_345802 | |
| Skipped exon start: 198274494 | |
| Skipped exon end: 198274731 | |
| Mutation start: 198274677 | |
| Mutation end: 198274677 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.G241* | |
exon_skip_345802_BRCA_TCGA-A8-A075-01.png | |
exon_skip_515798_BRCA_TCGA-A8-A075-01.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 |
| NCIH747_LARGE_INTESTINE | 198274494 | 198274731 | 198274515 | 198274516 | Frame_Shift_Ins | - | A | p.E295fs |
| A1207_CENTRAL_NERVOUS_SYSTEM | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| CAL12T_LUNG | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| CAOV3_OVARY | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| CAPAN1_PANCREAS | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| DU145_PROSTATE | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| DU4475_BREAST | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| GAMG_CENTRAL_NERVOUS_SYSTEM | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| HCC1806_BREAST | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| HCC2935_LUNG | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| HCC95_LUNG | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| HS274T_BREAST | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| MDAMB361_BREAST | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| NCIH292_LUNG | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| PANC0203_PANCREAS | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| PANC0213_PANCREAS | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| PANC0504_PANCREAS | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| RMGI_OVARY | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| SH10TC_STOMACH | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| SKMEL28_SKIN | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| SNU1040_LARGE_INTESTINE | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| SNU1272_KIDNEY | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| SNU349_KIDNEY | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| SNU407_LARGE_INTESTINE | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| SW620_LARGE_INTESTINE | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| UO31_KIDNEY | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| WM88_SKIN | 198281465 | 198281635 | 198281488 | 198281489 | Frame_Shift_Ins | - | T | p.L215fs |
| NCIH2135_LUNG | 198257696 | 198257912 | 198257747 | 198257747 | Missense_Mutation | C | A | p.E1235D |
| LC1SQSF_LUNG | 198257696 | 198257912 | 198257770 | 198257770 | Missense_Mutation | G | T | p.Q1228K |
| LC1SQ_LUNG | 198257696 | 198257912 | 198257770 | 198257770 | Missense_Mutation | G | T | p.Q1228K |
| PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 198257696 | 198257912 | 198257829 | 198257829 | Missense_Mutation | A | T | p.L1208Q |
| BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 198257696 | 198257912 | 198257829 | 198257829 | Missense_Mutation | A | T | p.L1208Q |
| KYSE140_OESOPHAGUS | 198257696 | 198257912 | 198257832 | 198257832 | Missense_Mutation | G | A | p.S1207L |
| TE4_OESOPHAGUS | 198257696 | 198257912 | 198257878 | 198257878 | Missense_Mutation | C | T | p.V1192I |
| BC3C_URINARY_TRACT | 198262709 | 198262840 | 198262761 | 198262761 | Missense_Mutation | C | T | p.A1072T |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 198263185 | 198263305 | 198263191 | 198263191 | Missense_Mutation | G | A | p.A1043V |
| SNUC2A_LARGE_INTESTINE | 198263185 | 198263305 | 198263198 | 198263198 | Missense_Mutation | G | A | p.R1041C |
| SNUC2B_LARGE_INTESTINE | 198263185 | 198263305 | 198263198 | 198263198 | Missense_Mutation | G | A | p.R1041C |
| LU135_LUNG | 198263185 | 198263305 | 198263208 | 198263208 | Missense_Mutation | A | T | p.D1037E |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 198274494 | 198274731 | 198274581 | 198274581 | Missense_Mutation | T | C | p.T273A |
| HEC6_ENDOMETRIUM | 198281465 | 198281635 | 198281535 | 198281535 | Missense_Mutation | C | T | p.R199H |
| SNUC4_LARGE_INTESTINE | 198281465 | 198281635 | 198281539 | 198281539 | Missense_Mutation | G | A | p.R198W |
| MDAMB361_BREAST | 198274494 | 198274731 | 198274698 | 198274698 | Nonsense_Mutation | C | A | p.E234* |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 198281465 | 198281635 | 198281635 | 198281635 | Splice_Site | G | T | p.R166R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SF3B1 |
| 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 |
| exon_skip_345798 | 2 | 198256978:198257185:198257695:198257912:198260779:198261052 | 198257695:198257912 | ENST00000335508.6 | LGG | rs4685 | chr2:198257795 | C/T | 1.09e-03 |
| exon_skip_345798 | 2 | 198256978:198257185:198257695:198257912:198260779:198261052 | 198257695:198257912 | ENST00000335508.6 | LGG | rs4685 | chr2:198257795 | C/T | 1.09e-03 |
| exon_skip_345798 | 2 | 198256978:198257185:198257695:198257912:198260779:198261052 | 198257695:198257912 | ENST00000335508.6 | LUSC | rs4685 | chr2:198257795 | C/T | 1.08e-03 |
| exon_skip_345798 | 2 | 198256978:198257185:198257695:198257912:198260779:198261052 | 198257695:198257912 | ENST00000335508.6 | LUSC | rs4685 | chr2:198257795 | C/T | 1.08e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SF3B1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SF3B1 |
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RelatedDrugs for SF3B1 |
| 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 SF3B1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SF3B1 | C0220633 | Uveal melanoma | 2 | CTD_human;ORPHANET |
| SF3B1 | C0023434 | Chronic Lymphocytic Leukemia | 1 | CTD_human |
| SF3B1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
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