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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 VWA3B |
 Gene summary |
| Gene information | Gene symbol | VWA3B | Gene ID | 200403 |
| Gene name | von Willebrand factor A domain containing 3B | |
| Synonyms | SCAR22 | |
| Cytomap | 2q11.2 | |
| Type of gene | protein-coding | |
| Description | von Willebrand factor A domain-containing protein 3BVWA domain-containing protein 3B | |
| Modification date | 20180519 | |
| UniProtAcc | Q502W6 | |
| Context | PubMed: VWA3B [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 VWA3B 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 VWA3B |
| 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 VWA3B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_327921 | 2 | 98709523:98709751:98715685:98715802:98732114:98732209 | 98715685:98715802 | ENSG00000168658.14 | ENST00000484571.1 |
| exon_skip_327922 | 2 | 98732114:98732209:98735975:98736226:98737761:98737875 | 98735975:98736226 | ENSG00000168658.14 | ENST00000416277.1,ENST00000448638.1,ENST00000433678.1,ENST00000409460.1,ENST00000477737.1,ENST00000435344.1 |
| exon_skip_327923 | 2 | 98732114:98732209:98735982:98736226:98737761:98737875 | 98735982:98736226 | ENSG00000168658.14 | ENST00000432242.1 |
| exon_skip_327925 | 2 | 98737761:98737921:98744701:98744871:98750286:98750360 | 98744701:98744871 | ENSG00000168658.14 | ENST00000416277.1,ENST00000433678.1,ENST00000409460.1,ENST00000477737.1,ENST00000432242.1,ENST00000435344.1,ENST00000422503.2,ENST00000451075.2 |
| exon_skip_327928 | 2 | 98744701:98744871:98750286:98750402:98779313:98779439 | 98750286:98750402 | ENSG00000168658.14 | ENST00000416277.1,ENST00000433678.1,ENST00000409460.1,ENST00000477737.1,ENST00000432242.1,ENST00000435344.1,ENST00000422503.2,ENST00000451075.2 |
| exon_skip_327929 | 2 | 98750286:98750402:98779313:98779439:98797478:98797675 | 98779313:98779439 | ENSG00000168658.14 | ENST00000433678.1,ENST00000409460.1,ENST00000477737.1,ENST00000432242.1,ENST00000435344.1,ENST00000422503.2,ENST00000451075.2 |
| exon_skip_327930 | 2 | 98779313:98779439:98795706:98795780:98797478:98797675 | 98795706:98795780 | ENSG00000168658.14 | ENST00000416277.1 |
| exon_skip_327931 | 2 | 98797478:98797675:98804437:98804592:98809360:98809499 | 98804437:98804592 | ENSG00000168658.14 | ENST00000433678.1,ENST00000409460.1,ENST00000477737.1,ENST00000435344.1,ENST00000422503.2,ENST00000451075.2 |
| exon_skip_327932 | 2 | 98828392:98828491:98833217:98833438:98834308:98834491 | 98833217:98833438 | ENSG00000168658.14 | ENST00000433678.1,ENST00000432242.1,ENST00000495571.1 |
| exon_skip_327933 | 2 | 98834308:98834491:98844664:98844795:98846512:98846670 | 98844664:98844795 | ENSG00000168658.14 | ENST00000416277.1,ENST00000448638.1,ENST00000409460.1,ENST00000473149.1,ENST00000477737.1,ENST00000432242.1,ENST00000495571.1 |
| exon_skip_327934 | 2 | 98851110:98851230:98852852:98852940:98853036:98853267 | 98852852:98852940 | ENSG00000168658.14 | ENST00000416277.1,ENST00000448638.1,ENST00000409460.1,ENST00000473149.1,ENST00000477737.1,ENST00000432242.1,ENST00000495571.1,ENST00000489630.1 |
| exon_skip_327936 | 2 | 98866780:98866899:98872586:98872637:98887144:98887346 | 98872586:98872637 | ENSG00000168658.14 | ENST00000490947.2,ENST00000409460.1,ENST00000473149.1,ENST00000477737.1,ENST00000495571.1,ENST00000489630.1 |
| exon_skip_327938 | 2 | 98914369:98914494:98916541:98916679:98920164:98920265 | 98916541:98916679 | ENSG00000168658.14 | ENST00000490947.2,ENST00000473149.1,ENST00000477737.1,ENST00000432242.1,ENST00000495571.1,ENST00000489630.1 |
| exon_skip_327939 | 2 | 98916541:98916679:98920164:98920265:98928281:98928464 | 98920164:98920265 | ENSG00000168658.14 | ENST00000490947.2,ENST00000473149.1,ENST00000477737.1,ENST00000432242.1,ENST00000495571.1,ENST00000489630.1 |
| exon_skip_327941 | 2 | 98920164:98920265:98928281:98928495:98928662:98928904 | 98928281:98928495 | ENSG00000168658.14 | ENST00000477737.1,ENST00000432242.1,ENST00000495571.1,ENST00000489630.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for VWA3B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_327921 | 2 | 98709523:98709751:98715685:98715802:98732114:98732209 | 98715685:98715802 | ENSG00000168658.14 | ENST00000484571.1 |
| exon_skip_327922 | 2 | 98732114:98732209:98735975:98736226:98737761:98737875 | 98735975:98736226 | ENSG00000168658.14 | ENST00000435344.1,ENST00000433678.1,ENST00000448638.1,ENST00000409460.1,ENST00000477737.1,ENST00000416277.1 |
| exon_skip_327923 | 2 | 98732114:98732209:98735982:98736226:98737761:98737875 | 98735982:98736226 | ENSG00000168658.14 | ENST00000432242.1 |
| exon_skip_327925 | 2 | 98737761:98737921:98744701:98744871:98750286:98750360 | 98744701:98744871 | ENSG00000168658.14 | ENST00000432242.1,ENST00000435344.1,ENST00000433678.1,ENST00000409460.1,ENST00000477737.1,ENST00000422503.2,ENST00000416277.1,ENST00000451075.2 |
| exon_skip_327928 | 2 | 98744701:98744871:98750286:98750402:98779313:98779439 | 98750286:98750402 | ENSG00000168658.14 | ENST00000432242.1,ENST00000435344.1,ENST00000433678.1,ENST00000409460.1,ENST00000477737.1,ENST00000422503.2,ENST00000416277.1,ENST00000451075.2 |
| exon_skip_327929 | 2 | 98750286:98750402:98779313:98779439:98797478:98797675 | 98779313:98779439 | ENSG00000168658.14 | ENST00000432242.1,ENST00000435344.1,ENST00000433678.1,ENST00000409460.1,ENST00000477737.1,ENST00000422503.2,ENST00000451075.2 |
| exon_skip_327930 | 2 | 98779313:98779439:98795706:98795780:98797478:98797675 | 98795706:98795780 | ENSG00000168658.14 | ENST00000416277.1 |
| exon_skip_327931 | 2 | 98797478:98797675:98804437:98804592:98809360:98809499 | 98804437:98804592 | ENSG00000168658.14 | ENST00000435344.1,ENST00000433678.1,ENST00000409460.1,ENST00000477737.1,ENST00000422503.2,ENST00000451075.2 |
| exon_skip_327932 | 2 | 98828392:98828491:98833217:98833438:98834308:98834491 | 98833217:98833438 | ENSG00000168658.14 | ENST00000432242.1,ENST00000433678.1,ENST00000495571.1 |
| exon_skip_327933 | 2 | 98834308:98834491:98844664:98844795:98846512:98846670 | 98844664:98844795 | ENSG00000168658.14 | ENST00000432242.1,ENST00000448638.1,ENST00000409460.1,ENST00000477737.1,ENST00000416277.1,ENST00000495571.1,ENST00000473149.1 |
| exon_skip_327934 | 2 | 98851110:98851230:98852852:98852940:98853036:98853267 | 98852852:98852940 | ENSG00000168658.14 | ENST00000432242.1,ENST00000448638.1,ENST00000409460.1,ENST00000477737.1,ENST00000416277.1,ENST00000495571.1,ENST00000489630.1,ENST00000473149.1 |
| exon_skip_327936 | 2 | 98866780:98866899:98872586:98872637:98887144:98887346 | 98872586:98872637 | ENSG00000168658.14 | ENST00000409460.1,ENST00000477737.1,ENST00000495571.1,ENST00000489630.1,ENST00000473149.1,ENST00000490947.2 |
| exon_skip_327937 | 2 | 98872586:98872637:98885804:98885954:98887144:98887346 | 98885804:98885954 | ENSG00000168658.14 | ENST00000432242.1 |
| exon_skip_327938 | 2 | 98914369:98914494:98916541:98916679:98920164:98920265 | 98916541:98916679 | ENSG00000168658.14 | ENST00000432242.1,ENST00000477737.1,ENST00000495571.1,ENST00000489630.1,ENST00000473149.1,ENST00000490947.2 |
| exon_skip_327939 | 2 | 98916541:98916679:98920164:98920265:98928281:98928464 | 98920164:98920265 | ENSG00000168658.14 | ENST00000432242.1,ENST00000477737.1,ENST00000495571.1,ENST00000489630.1,ENST00000473149.1,ENST00000490947.2 |
| exon_skip_327941 | 2 | 98920164:98920265:98928281:98928495:98928662:98928904 | 98928281:98928495 | ENSG00000168658.14 | ENST00000432242.1,ENST00000477737.1,ENST00000495571.1,ENST00000489630.1 |
| 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 VWA3B |
| 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 |
| ENST00000477737 | 98735975 | 98736226 | Frame-shift |
| ENST00000477737 | 98744701 | 98744871 | Frame-shift |
| ENST00000477737 | 98750286 | 98750402 | Frame-shift |
| ENST00000477737 | 98804437 | 98804592 | Frame-shift |
| ENST00000477737 | 98844664 | 98844795 | Frame-shift |
| ENST00000477737 | 98852852 | 98852940 | Frame-shift |
| ENST00000477737 | 98920164 | 98920265 | Frame-shift |
| ENST00000477737 | 98928281 | 98928495 | Frame-shift |
| ENST00000477737 | 98779313 | 98779439 | In-frame |
| ENST00000477737 | 98872586 | 98872637 | In-frame |
| ENST00000477737 | 98916541 | 98916679 | 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 |
| ENST00000477737 | 98735975 | 98736226 | Frame-shift |
| ENST00000477737 | 98744701 | 98744871 | Frame-shift |
| ENST00000477737 | 98750286 | 98750402 | Frame-shift |
| ENST00000477737 | 98804437 | 98804592 | Frame-shift |
| ENST00000477737 | 98844664 | 98844795 | Frame-shift |
| ENST00000477737 | 98852852 | 98852940 | Frame-shift |
| ENST00000477737 | 98920164 | 98920265 | Frame-shift |
| ENST00000477737 | 98928281 | 98928495 | Frame-shift |
| ENST00000477737 | 98779313 | 98779439 | In-frame |
| ENST00000477737 | 98872586 | 98872637 | In-frame |
| ENST00000477737 | 98916541 | 98916679 | In-frame |
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Infer the effects of exon skipping event on protein functional features for VWA3B |
| 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 |
| ENST00000477737 | 4471 | 1294 | 98779313 | 98779439 | 1193 | 1318 | 329 | 371 |
| ENST00000477737 | 4471 | 1294 | 98872586 | 98872637 | 2997 | 3047 | 931 | 947 |
| ENST00000477737 | 4471 | 1294 | 98916541 | 98916679 | 3487 | 3624 | 1094 | 1140 |
| 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 |
| ENST00000477737 | 4471 | 1294 | 98779313 | 98779439 | 1193 | 1318 | 329 | 371 |
| ENST00000477737 | 4471 | 1294 | 98872586 | 98872637 | 2997 | 3047 | 931 | 947 |
| ENST00000477737 | 4471 | 1294 | 98916541 | 98916679 | 3487 | 3624 | 1094 | 1140 |
| 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 |
| 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 |
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SNVs in the skipped exons for VWA3B |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_327923 exon_skip_327922 | 98735976 | 98736226 | 98736017 | 98736017 | Frame_Shift_Del | T | - | p.H111fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_327923 exon_skip_327922 | 98735983 | 98736226 | 98736017 | 98736017 | Frame_Shift_Del | T | - | p.H111fs |
| LUAD | TCGA-95-A4VN-01 | exon_skip_327925 | 98744702 | 98744871 | 98744728 | 98744728 | Frame_Shift_Del | G | - | p.V243fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_327925 | 98744702 | 98744871 | 98744842 | 98744842 | Frame_Shift_Del | A | - | p.L281fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_327938 | 98916542 | 98916679 | 98916563 | 98916563 | Frame_Shift_Del | A | - | p.K1102fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_327939 | 98920165 | 98920265 | 98920240 | 98920240 | Frame_Shift_Del | C | - | p.P1167fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_327941 | 98928282 | 98928495 | 98928474 | 98928474 | Frame_Shift_Del | G | - | p.Q1238fs |
| LUSC | TCGA-22-5473-01 | exon_skip_327925 | 98744702 | 98744871 | 98744741 | 98744741 | Nonsense_Mutation | G | T | p.E248* |
| PAAD | TCGA-IB-7651-01 | exon_skip_327928 | 98750287 | 98750402 | 98750321 | 98750321 | Nonsense_Mutation | G | T | p.E303* |
| PAAD | TCGA-IB-7651-01 | exon_skip_327928 | 98750287 | 98750402 | 98750321 | 98750321 | Nonsense_Mutation | G | T | p.E303X |
| SKCM | TCGA-EB-A51B-01 | exon_skip_327933 | 98844665 | 98844795 | 98844762 | 98844762 | Nonsense_Mutation | G | A | p.W706* |
| SKCM | TCGA-EB-A3XF-01 | exon_skip_327941 | 98928282 | 98928495 | 98928328 | 98928328 | Nonsense_Mutation | A | T | p.K1190* |
| UCEC | TCGA-BS-A0UJ-01 | exon_skip_327941 | 98928282 | 98928495 | 98928361 | 98928361 | Nonsense_Mutation | A | T | p.R1201* |
| LIHC | TCGA-2Y-A9GT-01 | exon_skip_327929 | 98779314 | 98779439 | 98779440 | 98779440 | Splice_Site | G | A | . |
| SARC | TCGA-QC-A7B5-01 | exon_skip_327931 | 98804438 | 98804592 | 98804437 | 98804437 | Splice_Site | G | A | e9-1 |
| LUSC | TCGA-18-3409-01 | exon_skip_327934 | 98852853 | 98852940 | 98852942 | 98852942 | Splice_Site | T | G | p.D839_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98920165 | 98920265 | 98920230 | 98920230 | Frame_Shift_Del | T | - | p.H1162fs |
| NCIH196_LUNG | 98735983 | 98736226 | 98736066 | 98736067 | Frame_Shift_Ins | - | G | p.S128fs |
| NCIH196_LUNG | 98735976 | 98736226 | 98736066 | 98736067 | Frame_Shift_Ins | - | G | p.S128fs |
| HCC2450_LUNG | 98735983 | 98736226 | 98736163 | 98736163 | Missense_Mutation | G | A | p.R160Q |
| HCC2450_LUNG | 98735976 | 98736226 | 98736163 | 98736163 | Missense_Mutation | G | A | p.R160Q |
| HCC366_LUNG | 98735983 | 98736226 | 98736205 | 98736205 | Missense_Mutation | T | A | p.I174K |
| HCC366_LUNG | 98735976 | 98736226 | 98736205 | 98736205 | Missense_Mutation | T | A | p.I174K |
| NCIH1770_LUNG | 98744702 | 98744871 | 98744714 | 98744714 | Missense_Mutation | T | A | p.Y239N |
| SBC1_LUNG | 98750287 | 98750402 | 98750358 | 98750358 | Missense_Mutation | T | C | p.V315A |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98779314 | 98779439 | 98779334 | 98779334 | Missense_Mutation | G | A | p.V337M |
| SNU81_LARGE_INTESTINE | 98779314 | 98779439 | 98779337 | 98779337 | Missense_Mutation | T | C | p.F338L |
| CW2_LARGE_INTESTINE | 98804438 | 98804592 | 98804457 | 98804457 | Missense_Mutation | T | A | p.V444D |
| KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98804438 | 98804592 | 98804580 | 98804580 | Missense_Mutation | G | A | p.R485Q |
| MERO84_LUNG | 98804438 | 98804592 | 98804586 | 98804586 | Missense_Mutation | G | A | p.R487Q |
| MCCAR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98804438 | 98804592 | 98804586 | 98804586 | Missense_Mutation | G | A | p.R487Q |
| IGR1_SKIN | 98844665 | 98844795 | 98844692 | 98844692 | Missense_Mutation | G | A | p.E683K |
| LNCAPCLONEFGC_PROSTATE | 98844665 | 98844795 | 98844727 | 98844727 | Missense_Mutation | G | A | p.M694I |
| NCIH2085_LUNG | 98844665 | 98844795 | 98844731 | 98844731 | Missense_Mutation | G | T | p.D696Y |
| MIAPACA2_PANCREAS | 98852853 | 98852940 | 98852895 | 98852895 | Missense_Mutation | C | T | p.S824L |
| PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98872587 | 98872637 | 98872596 | 98872596 | Missense_Mutation | T | G | p.N934K |
| BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98872587 | 98872637 | 98872596 | 98872596 | Missense_Mutation | T | G | p.N934K |
| LOVO_LARGE_INTESTINE | 98872587 | 98872637 | 98872597 | 98872597 | Missense_Mutation | A | G | p.K935E |
| PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98872587 | 98872637 | 98872613 | 98872613 | Missense_Mutation | C | A | p.A940E |
| BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98872587 | 98872637 | 98872613 | 98872613 | Missense_Mutation | C | A | p.A940E |
| NCIH211_LUNG | 98916542 | 98916679 | 98916546 | 98916546 | Missense_Mutation | G | A | p.G1096E |
| ES8_BONE | 98916542 | 98916679 | 98916615 | 98916615 | Missense_Mutation | C | A | p.A1119E |
| SNU719_STOMACH | 98920165 | 98920265 | 98920193 | 98920193 | Missense_Mutation | A | C | p.K1150T |
| NCIH2347_LUNG | 98920165 | 98920265 | 98920244 | 98920244 | Missense_Mutation | C | A | p.P1167Q |
| HCC2450_LUNG | 98920165 | 98920265 | 98920261 | 98920261 | Missense_Mutation | G | C | p.E1173Q |
| SKGT2_STOMACH | 98928282 | 98928495 | 98928335 | 98928335 | Missense_Mutation | C | T | p.A1192V |
| HT115_LARGE_INTESTINE | 98928282 | 98928495 | 98928365 | 98928365 | Missense_Mutation | G | A | p.R1202Q |
| ES2_OVARY | 98928282 | 98928495 | 98928380 | 98928380 | Missense_Mutation | G | T | p.R1207M |
| PACADD137_PANCREAS | 98928282 | 98928495 | 98928436 | 98928436 | Missense_Mutation | G | A | p.G1226S |
| EKVX_LUNG | 98928282 | 98928495 | 98928463 | 98928463 | Missense_Mutation | G | C | p.G1235R |
| D542MG_CENTRAL_NERVOUS_SYSTEM | 98804438 | 98804592 | 98804547 | 98804547 | Nonsense_Mutation | G | A | p.W474* |
| MIAPACA2_PANCREAS | 98852853 | 98852940 | 98852898 | 98852898 | Nonsense_Mutation | C | G | p.S825* |
| NCIH1563_LUNG | 98872587 | 98872637 | 98872621 | 98872621 | Nonsense_Mutation | C | T | p.Q943* |
| JHH6_LIVER | 98744702 | 98744871 | 98744702 | 98744702 | Splice_Site | A | G | p.I235V |
| KYSE140_OESOPHAGUS | 98744702 | 98744871 | 98744702 | 98744702 | Splice_Site | A | G | p.I235V |
| NUGC2_STOMACH | 98744702 | 98744871 | 98744702 | 98744702 | Splice_Site | A | G | p.I235V |
| SNU61_LARGE_INTESTINE | 98744702 | 98744871 | 98744702 | 98744702 | Splice_Site | A | G | p.I235V |
| KYSE450_OESOPHAGUS | 98744702 | 98744871 | 98744702 | 98744702 | Splice_Site | A | G | p.I235V |
| RCC10RGB_KIDNEY | 98744702 | 98744871 | 98744702 | 98744702 | Splice_Site | A | G | p.I235V |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98779314 | 98779439 | 98779438 | 98779438 | Splice_Site | C | T | p.C371C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for VWA3B |
| 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 VWA3B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for VWA3B |
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RelatedDrugs for VWA3B |
| 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 VWA3B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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