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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 BSG |
 Gene summary |
| Gene information | Gene symbol | BSG | Gene ID | 682 |
| Gene name | basigin (Ok blood group) | |
| Synonyms | 5F7|CD147|EMMPRIN|EMPRIN|OK|TCSF | |
| Cytomap | 19p13.3 | |
| Type of gene | protein-coding | |
| Description | basiginOK blood group antigencollagenase stimulatory factorextracellular matrix metalloproteinase inducerleukocyte activation antigen M6tumor cell-derived collagenase stimulatory factor | |
| Modification date | 20180522 | |
| UniProtAcc | P35613 | |
| Context | PubMed: BSG [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 BSG 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 BSG |
| 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 BSG |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENSG00000172270.14 | ENST00000545507.2 |
| exon_skip_300158 | 19 | 572595:572701:577773:578121:579499:579629 | 577773:578121 | ENSG00000172270.14 | ENST00000333511.3 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENSG00000172270.14 | ENST00000353555.4,ENST00000572899.1 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENSG00000172270.14 | ENST00000573216.1 |
| exon_skip_300173 | 19 | 575051:575140:577773:578121:579499:579629 | 577773:578121 | ENSG00000172270.14 | ENST00000574970.1 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENSG00000172270.14 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 |
| exon_skip_300186 | 19 | 581314:581591:582305:582330:582513:582578 | 582305:582330 | ENSG00000172270.14 | ENST00000333511.3,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2,ENST00000346916.4 |
| exon_skip_300194 | 19 | 582305:582330:582513:582582:582749:583490 | 582513:582582 | ENSG00000172270.14 | ENST00000333511.3,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2,ENST00000346916.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BSG |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENSG00000172270.14 | ENST00000545507.2 |
| exon_skip_300158 | 19 | 572595:572701:577773:578121:579499:579629 | 577773:578121 | ENSG00000172270.14 | ENST00000333511.3 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENSG00000172270.14 | ENST00000353555.4,ENST00000572899.1 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENSG00000172270.14 | ENST00000573216.1 |
| exon_skip_300173 | 19 | 575051:575140:577773:578121:579499:579629 | 577773:578121 | ENSG00000172270.14 | ENST00000574970.1 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENSG00000172270.14 | ENST00000545507.2,ENST00000333511.3,ENST00000573216.1,ENST00000353555.4,ENST00000573784.1,ENST00000576984.1,ENST00000571735.1 |
| exon_skip_300186 | 19 | 581314:581591:582305:582330:582513:582578 | 582305:582330 | ENSG00000172270.14 | ENST00000346916.4,ENST00000545507.2,ENST00000333511.3,ENST00000353555.4,ENST00000571735.1 |
| exon_skip_300194 | 19 | 582305:582330:582513:582582:582749:583490 | 582513:582582 | ENSG00000172270.14 | ENST00000346916.4,ENST00000545507.2,ENST00000333511.3,ENST00000353555.4,ENST00000571735.1 |
| 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 BSG |
| 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 |
| ENST00000333511 | 582513 | 582582 | 3UTR-3CDS |
| ENST00000333511 | 580378 | 580461 | Frame-shift |
| ENST00000333511 | 582305 | 582330 | Frame-shift |
| ENST00000333511 | 577773 | 578121 | 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 |
| ENST00000333511 | 582513 | 582582 | 3UTR-3CDS |
| ENST00000333511 | 580378 | 580461 | Frame-shift |
| ENST00000333511 | 582305 | 582330 | Frame-shift |
| ENST00000333511 | 577773 | 578121 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BSG |
| 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 |
| ENST00000333511 | 1991 | 385 | 577773 | 578121 | 138 | 485 | 22 | 138 |
| 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 |
| ENST00000333511 | 1991 | 385 | 577773 | 578121 | 138 | 485 | 22 | 138 |
| 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 |
| P35613 | 22 | 138 | 1 | 209 | Alternative sequence | ID=VSP_043225;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:21536654;Dbxref=PMID:21536654 |
| P35613 | 22 | 138 | 12 | 191 | Alternative sequence | ID=VSP_043227;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:21536654;Dbxref=PMID:21536654 |
| P35613 | 22 | 138 | 24 | 139 | Alternative sequence | ID=VSP_011501;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:1634773,ECO:0000303|PubMed:7812975;Dbxref=PMID:15489334,PMID:1634773,PMID:7812975 |
| P35613 | 22 | 138 | 24 | 27 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 32 | 35 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 40 | 47 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 53 | 62 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 79 | 95 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 104 | 111 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 116 | 118 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 128 | 137 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 22 | 385 | Chain | ID=PRO_0000014518;Note=Basigin |
| P35613 | 22 | 138 | 138 | 219 | Domain | Note=Ig-like C2-type |
| P35613 | 22 | 138 | 74 | 77 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 100 | 102 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 138 | 323 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| P35613 | 22 | 138 | 1 | 209 | Alternative sequence | ID=VSP_043225;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:21536654;Dbxref=PMID:21536654 |
| P35613 | 22 | 138 | 12 | 191 | Alternative sequence | ID=VSP_043227;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:21536654;Dbxref=PMID:21536654 |
| P35613 | 22 | 138 | 24 | 139 | Alternative sequence | ID=VSP_011501;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:1634773,ECO:0000303|PubMed:7812975;Dbxref=PMID:15489334,PMID:1634773,PMID:7812975 |
| P35613 | 22 | 138 | 24 | 27 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 32 | 35 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 40 | 47 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 53 | 62 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 79 | 95 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 104 | 111 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 116 | 118 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 128 | 137 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 22 | 385 | Chain | ID=PRO_0000014518;Note=Basigin |
| P35613 | 22 | 138 | 138 | 219 | Domain | Note=Ig-like C2-type |
| P35613 | 22 | 138 | 74 | 77 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 100 | 102 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3QR2 |
| P35613 | 22 | 138 | 138 | 323 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for BSG |
| - 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. |
| - 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 |
| STAD | TCGA-BR-8368-01 | exon_skip_300158 exon_skip_300173 | 577774 | 578121 | 577814 | 577814 | Frame_Shift_Del | G | - | p.V36fs |
| PCPG | TCGA-SR-A6MQ-01 | exon_skip_300158 exon_skip_300173 | 577774 | 578121 | 577826 | 577826 | Frame_Shift_Del | G | - | p.V40fs |
| STAD | TCGA-B7-5816-01 | exon_skip_300164 | 579500 | 579656 | 579603 | 579603 | Frame_Shift_Del | G | - | p.K173fs |
| STAD | TCGA-B7-5816-01 | exon_skip_300164 | 579524 | 579656 | 579603 | 579603 | Frame_Shift_Del | G | - | p.K173fs |
| CESC | TCGA-IR-A3LA-01 | exon_skip_300158 exon_skip_300173 | 577774 | 578121 | 577839 | 577839 | Nonsense_Mutation | G | T | p.E45* |
| SKCM | TCGA-D9-A148-06 | exon_skip_300186 | 582306 | 582330 | 582305 | 582305 | Splice_Site | G | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-IR-A3LA-01 |
| Cancer type: CESC | |
| ESID: exon_skip_300173 | |
| Skipped exon start: 577774 | |
| Skipped exon end: 578121 | |
| Mutation start: 577839 | |
| Mutation end: 577839 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E45* | |
exon_skip_300158_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_353670_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_514460_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_54120_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_7339_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_77466_CESC_TCGA-IR-A3LA-01.png | |
 | Sample: TCGA-SR-A6MQ-01 |
| Cancer type: PCPG | |
| ESID: exon_skip_300173 | |
| Skipped exon start: 577774 | |
| Skipped exon end: 578121 | |
| Mutation start: 577826 | |
| Mutation end: 577826 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.V40fs | |
exon_skip_300158_PCPG_TCGA-SR-A6MQ-01.png | |
 | Sample: TCGA-BR-8368-01 |
| Cancer type: STAD | |
| ESID: exon_skip_300173 | |
| Skipped exon start: 577774 | |
| Skipped exon end: 578121 | |
| Mutation start: 577814 | |
| Mutation end: 577814 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.V36fs | |
exon_skip_122794_STAD_TCGA-BR-8368-01.png | |
exon_skip_300158_STAD_TCGA-BR-8368-01.png | |
exon_skip_336630_STAD_TCGA-BR-8368-01.png | |
exon_skip_451867_STAD_TCGA-BR-8368-01.png | |
exon_skip_469307_STAD_TCGA-BR-8368-01.png | |
exon_skip_469308_STAD_TCGA-BR-8368-01.png | |
exon_skip_469318_STAD_TCGA-BR-8368-01.png | |
exon_skip_469321_STAD_TCGA-BR-8368-01.png | |
exon_skip_481431_STAD_TCGA-BR-8368-01.png | |
exon_skip_510143_STAD_TCGA-BR-8368-01.png | |
exon_skip_61768_STAD_TCGA-BR-8368-01.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 |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 579500 | 579656 | 579557 | 579557 | Frame_Shift_Del | C | - | p.S158fs |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 579524 | 579656 | 579557 | 579557 | Frame_Shift_Del | C | - | p.S158fs |
| NMCG1_CENTRAL_NERVOUS_SYSTEM | 577774 | 578121 | 577896 | 577896 | Missense_Mutation | A | C | p.N64H |
| MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 577774 | 578121 | 577896 | 577896 | Missense_Mutation | A | C | p.N64H |
| OMC1_CERVIX | 577774 | 578121 | 577896 | 577896 | Missense_Mutation | A | C | p.N64H |
| TE9_OESOPHAGUS | 577774 | 578121 | 577896 | 577896 | Missense_Mutation | A | C | p.N64H |
| CME1_SOFT_TISSUE | 577774 | 578121 | 577909 | 577909 | Missense_Mutation | C | G | p.S68C |
| BB49EBV_MATCHED_NORMAL_TISSUE | 577774 | 578121 | 578001 | 578001 | Missense_Mutation | G | A | p.V99M |
| BB49HNC_UPPER_AERODIGESTIVE_TRACT | 577774 | 578121 | 578001 | 578001 | Missense_Mutation | G | A | p.V99M |
| KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 577774 | 578121 | 578004 | 578004 | Missense_Mutation | G | A | p.E100K |
| HEC59_ENDOMETRIUM | 577774 | 578121 | 578011 | 578011 | Missense_Mutation | A | G | p.D102G |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 577774 | 578121 | 578014 | 578014 | Missense_Mutation | C | T | p.T103M |
| LNCAPCLONEFGC_PROSTATE | 577774 | 578121 | 578020 | 578020 | Missense_Mutation | C | T | p.T105I |
| HEC59_ENDOMETRIUM | 577774 | 578121 | 578071 | 578071 | Missense_Mutation | C | T | p.A122V |
| LIM1215_LARGE_INTESTINE | 579500 | 579656 | 579545 | 579545 | Missense_Mutation | T | C | p.L154P |
| LIM1215_LARGE_INTESTINE | 579524 | 579656 | 579545 | 579545 | Missense_Mutation | T | C | p.L154P |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 579500 | 579656 | 579548 | 579548 | Missense_Mutation | T | C | p.L155P |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 579524 | 579656 | 579548 | 579548 | Missense_Mutation | T | C | p.L155P |
| COLO824_BREAST | 579500 | 579656 | 579571 | 579571 | Missense_Mutation | G | A | p.A163T |
| COLO824_BREAST | 579524 | 579656 | 579571 | 579571 | Missense_Mutation | G | A | p.A163T |
| NCIH2009_LUNG | 579500 | 579656 | 579577 | 579577 | Missense_Mutation | G | A | p.E165K |
| NCIH2009_LUNG | 579524 | 579656 | 579577 | 579577 | Missense_Mutation | G | A | p.E165K |
| C33A_CERVIX | 579500 | 579656 | 579592 | 579592 | Missense_Mutation | C | T | p.R170C |
| C33A_CERVIX | 579524 | 579656 | 579592 | 579592 | Missense_Mutation | C | T | p.R170C |
| RH30_SOFT_TISSUE | 579500 | 579656 | 579647 | 579647 | Missense_Mutation | C | T | p.T188M |
| RH30_SOFT_TISSUE | 579524 | 579656 | 579647 | 579647 | Missense_Mutation | C | T | p.T188M |
| SJRH30_SOFT_TISSUE | 579500 | 579656 | 579647 | 579647 | Missense_Mutation | C | T | p.T188M |
| SJRH30_SOFT_TISSUE | 579524 | 579656 | 579647 | 579647 | Missense_Mutation | C | T | p.T188M |
| FTC133_THYROID | 580379 | 580461 | 580407 | 580407 | Missense_Mutation | T | A | p.Y201N |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 580379 | 580461 | 580408 | 580408 | Missense_Mutation | A | G | p.Y201C |
| MEWO_SKIN | 580379 | 580461 | 580425 | 580425 | Missense_Mutation | C | T | p.P207S |
| HCT15_LARGE_INTESTINE | 582306 | 582330 | 582312 | 582312 | Missense_Mutation | A | G | p.D359G |
| CAL51_BREAST | 582514 | 582582 | 582524 | 582524 | Missense_Mutation | G | T | p.G369W |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 582514 | 582582 | 582524 | 582524 | Missense_Mutation | G | A | p.G369R |
| SKUT1_SOFT_TISSUE | 582514 | 582582 | 582558 | 582558 | Missense_Mutation | G | A | p.R380H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BSG |
| 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_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | COAD | rs1803202 | chr19:579627 | C/T | 3.45e-06 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | COAD | rs1803202 | chr19:579627 | C/T | 3.45e-06 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | BLCA | rs1803202 | chr19:579627 | C/T | 4.43e-05 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | BLCA | rs1803202 | chr19:579627 | C/T | 4.51e-05 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | KIRP | rs1803202 | chr19:579627 | C/T | 5.94e-05 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | KIRP | rs1803202 | chr19:579627 | C/T | 5.96e-05 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | LGG | rs1803202 | chr19:579627 | C/T | 4.20e-18 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | LGG | rs1803202 | chr19:579627 | C/T | 4.21e-18 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | LGG | rs1803202 | chr19:579627 | C/T | 1.30e-05 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | KIRC | rs1803202 | chr19:579627 | C/T | 3.42e-09 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | KIRC | rs1803202 | chr19:579627 | C/T | 3.44e-09 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | KIRC | rs1803202 | chr19:579627 | C/T | 3.98e-04 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | LIHC | rs1803202 | chr19:579627 | C/T | 3.08e-04 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | LIHC | rs1803202 | chr19:579627 | C/T | 3.09e-04 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | PCPG | rs1803202 | chr19:579627 | C/T | 8.90e-07 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | PAAD | rs1803202 | chr19:579627 | C/T | 1.56e-04 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | PAAD | rs1803202 | chr19:579627 | C/T | 1.56e-04 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | PRAD | rs1803202 | chr19:579627 | C/T | 2.42e-05 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | PRAD | rs1803202 | chr19:579627 | C/T | 2.45e-05 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | THYM | rs1803202 | chr19:579627 | C/T | 3.00e-04 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | THYM | rs1803202 | chr19:579627 | C/T | 3.00e-04 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | TGCT | rs1803202 | chr19:579627 | C/T | 1.39e-07 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | TGCT | rs1803202 | chr19:579627 | C/T | 1.39e-07 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | THCA | rs1803202 | chr19:579627 | C/T | 2.45e-14 |
| exon_skip_300156 | 19 | 571304:571579:579499:579656:580378:580461 | 579499:579656 | ENST00000545507.2 | THCA | rs1803202 | chr19:579627 | C/T | 2.51e-14 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | COAD | rs1803202 | chr19:579627 | C/T | 3.45e-06 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | COAD | rs1803202 | chr19:579627 | C/T | 3.45e-06 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | BLCA | rs1803202 | chr19:579627 | C/T | 4.43e-05 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | BLCA | rs1803202 | chr19:579627 | C/T | 4.51e-05 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | KIRP | rs1803202 | chr19:579627 | C/T | 5.94e-05 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | KIRP | rs1803202 | chr19:579627 | C/T | 5.96e-05 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | LGG | rs1803202 | chr19:579627 | C/T | 4.20e-18 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | LGG | rs1803202 | chr19:579627 | C/T | 4.21e-18 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | LGG | rs1803202 | chr19:579627 | C/T | 1.30e-05 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | KIRC | rs1803202 | chr19:579627 | C/T | 3.42e-09 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | KIRC | rs1803202 | chr19:579627 | C/T | 3.44e-09 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | KIRC | rs1803202 | chr19:579627 | C/T | 3.98e-04 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | LIHC | rs1803202 | chr19:579627 | C/T | 3.08e-04 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | LIHC | rs1803202 | chr19:579627 | C/T | 3.09e-04 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | PCPG | rs1803202 | chr19:579627 | C/T | 8.90e-07 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | PAAD | rs1803202 | chr19:579627 | C/T | 1.56e-04 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | PAAD | rs1803202 | chr19:579627 | C/T | 1.56e-04 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | PRAD | rs1803202 | chr19:579627 | C/T | 2.42e-05 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | PRAD | rs1803202 | chr19:579627 | C/T | 2.45e-05 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | THYM | rs1803202 | chr19:579627 | C/T | 3.00e-04 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | THYM | rs1803202 | chr19:579627 | C/T | 3.00e-04 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | TGCT | rs1803202 | chr19:579627 | C/T | 1.39e-07 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | TGCT | rs1803202 | chr19:579627 | C/T | 1.39e-07 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | THCA | rs1803202 | chr19:579627 | C/T | 2.45e-14 |
| exon_skip_300164 | 19 | 572595:572701:579523:579656:580378:580461 | 579523:579656 | ENST00000573216.1 | THCA | rs1803202 | chr19:579627 | C/T | 2.51e-14 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | COAD | rs1803202 | chr19:579627 | C/T | 3.45e-06 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | COAD | rs1803202 | chr19:579627 | C/T | 3.45e-06 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | BLCA | rs1803202 | chr19:579627 | C/T | 4.43e-05 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | BLCA | rs1803202 | chr19:579627 | C/T | 4.51e-05 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | KIRP | rs1803202 | chr19:579627 | C/T | 5.94e-05 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | KIRP | rs1803202 | chr19:579627 | C/T | 5.96e-05 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | LGG | rs1803202 | chr19:579627 | C/T | 4.20e-18 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | LGG | rs1803202 | chr19:579627 | C/T | 4.21e-18 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | LGG | rs1803202 | chr19:579627 | C/T | 1.30e-05 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | KIRC | rs1803202 | chr19:579627 | C/T | 3.42e-09 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | KIRC | rs1803202 | chr19:579627 | C/T | 3.44e-09 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | KIRC | rs1803202 | chr19:579627 | C/T | 3.98e-04 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | LIHC | rs1803202 | chr19:579627 | C/T | 3.08e-04 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | LIHC | rs1803202 | chr19:579627 | C/T | 3.09e-04 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | PCPG | rs1803202 | chr19:579627 | C/T | 8.90e-07 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | PAAD | rs1803202 | chr19:579627 | C/T | 1.56e-04 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | PAAD | rs1803202 | chr19:579627 | C/T | 1.56e-04 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | PRAD | rs1803202 | chr19:579627 | C/T | 2.42e-05 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | PRAD | rs1803202 | chr19:579627 | C/T | 2.45e-05 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | THYM | rs1803202 | chr19:579627 | C/T | 3.00e-04 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | THYM | rs1803202 | chr19:579627 | C/T | 3.00e-04 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | TGCT | rs1803202 | chr19:579627 | C/T | 1.39e-07 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | TGCT | rs1803202 | chr19:579627 | C/T | 1.39e-07 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | THCA | rs1803202 | chr19:579627 | C/T | 2.45e-14 |
| exon_skip_300161 | 19 | 572595:572701:579499:579656:580378:580461 | 579499:579656 | ENST00000353555.4,ENST00000572899.1 | THCA | rs1803202 | chr19:579627 | C/T | 2.51e-14 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | COAD | rs2229664 | chr19:580388 | C/G | 1.51e-06 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | COAD | rs2229664 | chr19:580388 | C/G | 1.51e-06 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | BLCA | rs2229664 | chr19:580388 | C/G | 4.30e-05 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | BLCA | rs2229664 | chr19:580388 | C/G | 4.39e-05 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | KIRP | rs2229664 | chr19:580388 | C/G | 4.83e-05 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | KIRP | rs2229664 | chr19:580388 | C/G | 4.85e-05 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | LGG | rs2229664 | chr19:580388 | C/G | 2.89e-18 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | LGG | rs2229664 | chr19:580388 | C/G | 2.89e-18 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | LGG | rs2229664 | chr19:580388 | C/G | 1.28e-05 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | KIRC | rs2229664 | chr19:580388 | C/G | 3.42e-09 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | KIRC | rs2229664 | chr19:580388 | C/G | 3.44e-09 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | KIRC | rs2229664 | chr19:580388 | C/G | 3.98e-04 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | LIHC | rs2229664 | chr19:580388 | C/G | 2.83e-04 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | LIHC | rs2229664 | chr19:580388 | C/G | 2.83e-04 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | PCPG | rs2229664 | chr19:580388 | C/G | 8.90e-07 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | PAAD | rs2229664 | chr19:580388 | C/G | 1.56e-04 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | PAAD | rs2229664 | chr19:580388 | C/G | 1.56e-04 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | PRAD | rs2229664 | chr19:580388 | C/G | 2.57e-05 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | PRAD | rs2229664 | chr19:580388 | C/G | 2.61e-05 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | THYM | rs2229664 | chr19:580388 | C/G | 3.00e-04 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | THYM | rs2229664 | chr19:580388 | C/G | 3.00e-04 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | THCA | rs2229664 | chr19:580388 | C/G | 3.15e-14 |
| exon_skip_300181 | 19 | 579523:579656:580378:580461:580645:580775 | 580378:580461 | ENST00000333511.3,ENST00000573784.1,ENST00000576984.1,ENST00000573216.1,ENST00000571735.1,ENST00000353555.4,ENST00000545507.2 | THCA | rs2229664 | chr19:580388 | C/G | 3.23e-14 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BSG |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BSG |
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RelatedDrugs for BSG |
| 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 BSG |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BSG | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| BSG | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| BSG | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
| BSG | C0036341 | Schizophrenia | 1 | PSYGENET |
| BSG | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |
| BSG | C2936350 | Plaque, Atherosclerotic | 1 | CTD_human |
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