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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 THBS2 |
Gene summary |
| Gene information | Gene symbol | THBS2 | Gene ID | 7058 |
| Gene name | thrombospondin 2 | |
| Synonyms | TSP2 | |
| Cytomap | 6q27 | |
| Type of gene | protein-coding | |
| Description | thrombospondin-2 | |
| Modification date | 20180522 | |
| UniProtAcc | P35442 | |
| Context | PubMed: THBS2 [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 |
| THBS2 | GO:0016525 | negative regulation of angiogenesis | 20714802 |
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Exon skipping events across known transcript of Ensembl for THBS2 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 THBS2 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for THBS2 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_463415 | 6 | 169620292:169620432:169621524:169621622:169622291:169622563 | 169621524:169621622 | ENSG00000186340.10 | ENST00000366787.3,ENST00000488355.1 |
| exon_skip_463416 | 6 | 169621524:169621622:169622291:169622563:169623342:169623535 | 169622291:169622563 | ENSG00000186340.10 | ENST00000366787.3,ENST00000488355.1 |
| exon_skip_463419 | 6 | 169633001:169633112:169634828:169635002:169637264:169637441 | 169634828:169635002 | ENSG00000186340.10 | ENST00000366787.3 |
| exon_skip_463421 | 6 | 169637264:169637441:169637719:169637890:169639693:169639790 | 169637719:169637890 | ENSG00000186340.10 | ENST00000366787.3 |
| exon_skip_463422 | 6 | 169639693:169639790:169640546:169640687:169641856:169642053 | 169640546:169640687 | ENSG00000186340.10 | ENST00000366787.3 |
| exon_skip_463424 | 6 | 169646291:169646376:169648511:169649068:169650827:169650901 | 169648511:169649068 | ENSG00000186340.10 | ENST00000366787.3 |
| exon_skip_463425 | 6 | 169648869:169649068:169650827:169650901:169653818:169653991 | 169650827:169650901 | ENSG00000186340.10 | ENST00000366787.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for THBS2 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_463415 | 6 | 169620292:169620432:169621524:169621622:169622291:169622563 | 169621524:169621622 | ENSG00000186340.10 | ENST00000366787.3,ENST00000488355.1 |
| exon_skip_463416 | 6 | 169621524:169621622:169622291:169622563:169623342:169623535 | 169622291:169622563 | ENSG00000186340.10 | ENST00000366787.3,ENST00000488355.1 |
| exon_skip_463419 | 6 | 169633001:169633112:169634828:169635002:169637264:169637441 | 169634828:169635002 | ENSG00000186340.10 | ENST00000366787.3 |
| exon_skip_463421 | 6 | 169637264:169637441:169637719:169637890:169639693:169639790 | 169637719:169637890 | ENSG00000186340.10 | ENST00000366787.3 |
| exon_skip_463422 | 6 | 169639693:169639790:169640546:169640687:169641856:169642053 | 169640546:169640687 | ENSG00000186340.10 | ENST00000366787.3 |
| exon_skip_463424 | 6 | 169646291:169646376:169648511:169649068:169650827:169650901 | 169648511:169649068 | ENSG00000186340.10 | ENST00000366787.3 |
| exon_skip_463425 | 6 | 169648869:169649068:169650827:169650901:169653818:169653991 | 169650827:169650901 | ENSG00000186340.10 | ENST00000366787.3 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for THBS2 |
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 |
| ENST00000366787 | 169650827 | 169650901 | 3UTR-3CDS |
| ENST00000366787 | 169621524 | 169621622 | Frame-shift |
| ENST00000366787 | 169622291 | 169622563 | Frame-shift |
| ENST00000366787 | 169648511 | 169649068 | Frame-shift |
| ENST00000366787 | 169634828 | 169635002 | In-frame |
| ENST00000366787 | 169637719 | 169637890 | In-frame |
| ENST00000366787 | 169640546 | 169640687 | 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 |
| ENST00000366787 | 169650827 | 169650901 | 3UTR-3CDS |
| ENST00000366787 | 169621524 | 169621622 | Frame-shift |
| ENST00000366787 | 169622291 | 169622563 | Frame-shift |
| ENST00000366787 | 169648511 | 169649068 | Frame-shift |
| ENST00000366787 | 169634828 | 169635002 | In-frame |
| ENST00000366787 | 169637719 | 169637890 | In-frame |
| ENST00000366787 | 169640546 | 169640687 | In-frame |
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Infer the effects of exon skipping event on protein functional features for THBS2 |
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 |
| ENST00000366787 | 5828 | 1172 | 169640546 | 169640687 | 1142 | 1282 | 297 | 344 |
| ENST00000366787 | 5828 | 1172 | 169637719 | 169637890 | 1380 | 1550 | 376 | 433 |
| ENST00000366787 | 5828 | 1172 | 169634828 | 169635002 | 1728 | 1901 | 492 | 550 |
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 |
| ENST00000366787 | 5828 | 1172 | 169640546 | 169640687 | 1142 | 1282 | 297 | 344 |
| ENST00000366787 | 5828 | 1172 | 169637719 | 169637890 | 1380 | 1550 | 376 | 433 |
| ENST00000366787 | 5828 | 1172 | 169634828 | 169635002 | 1728 | 1901 | 492 | 550 |
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 |
| P35442 | 297 | 344 | 19 | 1172 | Chain | ID=PRO_0000035846;Note=Thrombospondin-2 |
| P35442 | 297 | 344 | 318 | 375 | Domain | Note=VWFC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00220 |
| P35442 | 297 | 344 | 316 | 316 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35442 | 297 | 344 | 330 | 330 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35442 | 376 | 433 | 19 | 1172 | Chain | ID=PRO_0000035846;Note=Thrombospondin-2 |
| P35442 | 376 | 433 | 393 | 425 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P35442 | 376 | 433 | 397 | 430 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P35442 | 376 | 433 | 408 | 415 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P35442 | 376 | 433 | 381 | 431 | Domain | Note=TSP type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| P35442 | 492 | 550 | 19 | 1172 | Chain | ID=PRO_0000035846;Note=Thrombospondin-2 |
| P35442 | 492 | 550 | 506 | 543 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P35442 | 492 | 550 | 510 | 548 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P35442 | 492 | 550 | 521 | 533 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P35442 | 492 | 550 | 437 | 492 | Domain | Note=TSP type-1 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| P35442 | 492 | 550 | 494 | 549 | Domain | Note=TSP type-1 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| P35442 | 492 | 550 | 549 | 589 | Domain | Note=EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
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 |
| P35442 | 297 | 344 | 19 | 1172 | Chain | ID=PRO_0000035846;Note=Thrombospondin-2 |
| P35442 | 297 | 344 | 318 | 375 | Domain | Note=VWFC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00220 |
| P35442 | 297 | 344 | 316 | 316 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35442 | 297 | 344 | 330 | 330 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35442 | 376 | 433 | 19 | 1172 | Chain | ID=PRO_0000035846;Note=Thrombospondin-2 |
| P35442 | 376 | 433 | 393 | 425 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P35442 | 376 | 433 | 397 | 430 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P35442 | 376 | 433 | 408 | 415 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P35442 | 376 | 433 | 381 | 431 | Domain | Note=TSP type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| P35442 | 492 | 550 | 19 | 1172 | Chain | ID=PRO_0000035846;Note=Thrombospondin-2 |
| P35442 | 492 | 550 | 506 | 543 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P35442 | 492 | 550 | 510 | 548 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P35442 | 492 | 550 | 521 | 533 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P35442 | 492 | 550 | 437 | 492 | Domain | Note=TSP type-1 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| P35442 | 492 | 550 | 494 | 549 | Domain | Note=TSP type-1 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| P35442 | 492 | 550 | 549 | 589 | Domain | Note=EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
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SNVs in the skipped exons for THBS2 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
THBS2_SKCM_exon_skip_463424_psi_boxplot.png![]() |
THBS2_STAD_exon_skip_463424_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-KQ-A41R-01 | exon_skip_463421 | 169637720 | 169637890 | 169637778 | 169637778 | Frame_Shift_Del | G | - | p.T414fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_463421 | 169637720 | 169637890 | 169637820 | 169637820 | Frame_Shift_Del | C | - | p.G400fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_463422 | 169640547 | 169640687 | 169640647 | 169640647 | Frame_Shift_Del | G | - | p.P312fs |
| STAD | TCGA-BR-8487-01 | exon_skip_463424 | 169648512 | 169649068 | 169648522 | 169648523 | Frame_Shift_Del | CT | - | p.200_200del |
| STAD | TCGA-BR-8487-01 | exon_skip_463424 | 169648512 | 169649068 | 169648522 | 169648523 | Frame_Shift_Del | CT | - | p.S200fs |
| HNSC | TCGA-CV-6945-01 | exon_skip_463424 | 169648512 | 169649068 | 169648982 | 169648983 | Frame_Shift_Del | CG | - | p.R46fs |
| HNSC | TCGA-CV-6945-01 | exon_skip_463424 | 169648512 | 169649068 | 169648982 | 169648983 | Frame_Shift_Del | CG | - | p.RG46fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_463425 | 169650828 | 169650901 | 169650876 | 169650876 | Frame_Shift_Del | C | - | p.V2fs |
| OV | TCGA-24-1103-01 | exon_skip_463416 | 169622292 | 169622563 | 169622375 | 169622376 | Frame_Shift_Ins | - | C | p.S1063fs |
| LUSC | TCGA-21-1078-01 | exon_skip_463419 | 169634829 | 169635002 | 169634881 | 169634881 | Nonsense_Mutation | G | T | p.C533* |
| HNSC | TCGA-QK-A6VB-01 | exon_skip_463422 | 169640547 | 169640687 | 169640616 | 169640616 | Nonsense_Mutation | C | T | p.W321* |
| SKCM | TCGA-EE-A2MK-06 | exon_skip_463422 | 169640547 | 169640687 | 169640626 | 169640626 | Nonsense_Mutation | G | C | p.S318* |
| SKCM | TCGA-EE-A2MK-06 | exon_skip_463422 | 169640547 | 169640687 | 169640626 | 169640626 | Nonsense_Mutation | G | C | p.S318X |
| LUAD | TCGA-75-5146-01 | exon_skip_463424 | 169648512 | 169649068 | 169648565 | 169648565 | Nonsense_Mutation | C | A | p.E186* |
| LUAD | TCGA-64-1676-01 | exon_skip_463424 | 169648512 | 169649068 | 169648571 | 169648571 | Nonsense_Mutation | G | A | p.Q184* |
| SKCM | TCGA-BF-A5ES-01 | exon_skip_463424 | 169648512 | 169649068 | 169648674 | 169648674 | Nonsense_Mutation | C | T | p.W149* |
| SKCM | TCGA-W3-AA1V-06 | exon_skip_463424 | 169648512 | 169649068 | 169648675 | 169648675 | Nonsense_Mutation | C | T | p.W149* |
| OV | TCGA-25-2409-01 | exon_skip_463425 | 169650828 | 169650901 | 169650827 | 169650827 | Splice_Site | C | T | p.A18_splice |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
| JHUEM1_ENDOMETRIUM | 169648512 | 169649068 | 169648522 | 169648523 | Frame_Shift_Del | CT | - | p.S200fs |
| OVK18_OVARY | 169637720 | 169637890 | 169637733 | 169637734 | Frame_Shift_Ins | - | T | p.K429fs |
| HCC1569_BREAST | 169621525 | 169621622 | 169621532 | 169621532 | Missense_Mutation | A | G | p.Y1122H |
| HMEL_BREAST | 169621525 | 169621622 | 169621573 | 169621573 | Missense_Mutation | G | C | p.T1108R |
| JHUEM3_ENDOMETRIUM | 169622292 | 169622563 | 169622315 | 169622315 | Missense_Mutation | G | T | p.H1084N |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169622292 | 169622563 | 169622519 | 169622519 | Missense_Mutation | C | T | p.V1016I |
| SNU1_STOMACH | 169634829 | 169635002 | 169634861 | 169634861 | Missense_Mutation | C | T | p.R540H |
| HCC827GR5_LUNG | 169634829 | 169635002 | 169634960 | 169634960 | Missense_Mutation | G | A | p.T507I |
| NCIH510_LUNG | 169637720 | 169637890 | 169637725 | 169637725 | Missense_Mutation | G | T | p.T432N |
| SISO_CERVIX | 169637720 | 169637890 | 169637753 | 169637753 | Missense_Mutation | G | A | p.R423W |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169637720 | 169637890 | 169637753 | 169637753 | Missense_Mutation | G | A | p.R423W |
| RKO_LARGE_INTESTINE | 169640547 | 169640687 | 169640609 | 169640609 | Missense_Mutation | C | T | p.G324S |
| SNU1_STOMACH | 169640547 | 169640687 | 169640624 | 169640624 | Missense_Mutation | C | T | p.A319T |
| HCT116_LARGE_INTESTINE | 169640547 | 169640687 | 169640644 | 169640644 | Missense_Mutation | G | A | p.P312L |
| SNU81_LARGE_INTESTINE | 169640547 | 169640687 | 169640669 | 169640669 | Missense_Mutation | G | T | p.L304I |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169640547 | 169640687 | 169640680 | 169640680 | Missense_Mutation | T | A | p.D300V |
| RL952_ENDOMETRIUM | 169648512 | 169649068 | 169648661 | 169648661 | Missense_Mutation | C | T | p.V154M |
| MERO95_LUNG | 169648512 | 169649068 | 169648672 | 169648672 | Missense_Mutation | T | C | p.K150R |
| RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169648512 | 169649068 | 169648703 | 169648703 | Missense_Mutation | C | T | p.E140K |
| LAN2_AUTONOMIC_GANGLIA | 169648512 | 169649068 | 169648757 | 169648757 | Missense_Mutation | C | A | p.D122Y |
| NCIH358_LUNG | 169648512 | 169649068 | 169648790 | 169648790 | Missense_Mutation | T | A | p.R111W |
| MEWO_SKIN | 169648512 | 169649068 | 169648799 | 169648799 | Missense_Mutation | G | A | p.L108F |
| SKMEL28_SKIN | 169648512 | 169649068 | 169648844 | 169648844 | Missense_Mutation | C | T | p.D93N |
| COLO668_LUNG | 169648512 | 169649068 | 169648861 | 169648861 | Missense_Mutation | G | C | p.T87R |
| SW48_LARGE_INTESTINE | 169648512 | 169649068 | 169648898 | 169648898 | Missense_Mutation | T | C | p.T75A |
| MS751_CERVIX | 169648512 | 169649068 | 169648961 | 169648961 | Missense_Mutation | C | T | p.A54T |
| NCIH747_LARGE_INTESTINE | 169648512 | 169649068 | 169648963 | 169648963 | Missense_Mutation | G | A | p.P53L |
| HEC151_ENDOMETRIUM | 169648512 | 169649068 | 169648982 | 169648982 | Missense_Mutation | C | T | p.G47R |
| SNGM_ENDOMETRIUM | 169648512 | 169649068 | 169648982 | 169648982 | Missense_Mutation | C | T | p.G47R |
| SNU1040_LARGE_INTESTINE | 169648512 | 169649068 | 169648997 | 169648997 | Missense_Mutation | C | T | p.A42T |
| SNU475_LIVER | 169648512 | 169649068 | 169649060 | 169649060 | Missense_Mutation | G | T | p.Q21K |
| NCIH1915_LUNG | 169648512 | 169649068 | 169649062 | 169649062 | Missense_Mutation | T | A | p.H20L |
| KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169650828 | 169650901 | 169650833 | 169650833 | Missense_Mutation | G | A | p.T16M |
| CW2_LARGE_INTESTINE | 169622292 | 169622563 | 169622316 | 169622316 | Nonsense_Mutation | C | T | p.W1083* |
| NCIH2286_LUNG | 169634829 | 169635002 | 169634917 | 169634917 | Nonsense_Mutation | G | T | p.C521* |
| HEC50B_ENDOMETRIUM | 169637720 | 169637890 | 169637868 | 169637868 | Nonsense_Mutation | C | T | p.W384* |
| SN12C_KIDNEY | 169634829 | 169635002 | 169634830 | 169634830 | Splice_Site | C | A | p.V550V |
| SISO_CERVIX | 169648512 | 169649068 | 169649068 | 169649068 | Splice_Site | G | T | p.A18D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for THBS2 |
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 THBS2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for THBS2 |
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RelatedDrugs for THBS2 |
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 THBS2 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| THBS2 | C0011849 | Diabetes Mellitus | 1 | CTD_human |
| THBS2 | C0011875 | Diabetic Angiopathies | 1 | CTD_human |