|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for SWAP70 |
 Gene summary |
| Gene information | Gene symbol | SWAP70 | Gene ID | 23075 |
| Gene name | switching B cell complex subunit SWAP70 | |
| Synonyms | HSPC321|SWAP-70 | |
| Cytomap | 11p15.4 | |
| Type of gene | protein-coding | |
| Description | switch-associated protein 70SWAP switching B-cell complex 70kDa subunitSWAP switching B-cell complex subunit 70 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UH65 | |
| Context | PubMed: SWAP70 [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 |
Top |
Exon skipping events across known transcript of Ensembl for SWAP70 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. |
 |
Top |
Gene isoform structures and expression levels for SWAP70 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for SWAP70 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_56885 | 11 | 9715692:9715833:9724942:9724995:9735012:9735186 | 9724942:9724995 | ENSG00000133789.10 | ENST00000526358.1 |
| exon_skip_56886 | 11 | 9715692:9715833:9735012:9735186:9746204:9746432 | 9735012:9735186 | ENSG00000133789.10 | ENST00000524817.1,ENST00000318950.6 |
| exon_skip_56888 | 11 | 9715692:9715833:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENSG00000133789.10 | ENST00000447399.2 |
| exon_skip_56889 | 11 | 9735012:9735186:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENSG00000133789.10 | ENST00000524817.1,ENST00000318950.6,ENST00000526358.1 |
| exon_skip_56890 | 11 | 9741612:9742030:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENSG00000133789.10 | ENST00000534662.1 |
| exon_skip_56891 | 11 | 9754075:9754257:9759759:9759867:9761727:9761889 | 9759759:9759867 | ENSG00000133789.10 | ENST00000534562.1,ENST00000524817.1,ENST00000447399.2,ENST00000318950.6 |
| exon_skip_56892 | 11 | 9769404:9769603:9770633:9770730:9771410:9773368 | 9770633:9770730 | ENSG00000133789.10 | ENST00000447399.2,ENST00000318950.6 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for SWAP70 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_56885 | 11 | 9715692:9715833:9724942:9724995:9735012:9735186 | 9724942:9724995 | ENSG00000133789.10 | ENST00000526358.1 |
| exon_skip_56886 | 11 | 9715692:9715833:9735012:9735186:9746204:9746432 | 9735012:9735186 | ENSG00000133789.10 | ENST00000318950.6,ENST00000524817.1 |
| exon_skip_56888 | 11 | 9715692:9715833:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENSG00000133789.10 | ENST00000447399.2 |
| exon_skip_56889 | 11 | 9735012:9735186:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENSG00000133789.10 | ENST00000318950.6,ENST00000526358.1,ENST00000524817.1 |
| exon_skip_56890 | 11 | 9741612:9742030:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENSG00000133789.10 | ENST00000534662.1 |
| exon_skip_56891 | 11 | 9754075:9754257:9759759:9759867:9761727:9761889 | 9759759:9759867 | ENSG00000133789.10 | ENST00000447399.2,ENST00000318950.6,ENST00000524817.1,ENST00000534562.1 |
| exon_skip_56892 | 11 | 9769404:9769603:9770633:9770730:9771410:9773368 | 9770633:9770730 | ENSG00000133789.10 | ENST00000447399.2,ENST00000318950.6 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for SWAP70 |
| 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 |
| ENST00000318950 | 9770633 | 9770730 | Frame-shift |
| ENST00000318950 | 9735012 | 9735186 | In-frame |
| ENST00000318950 | 9746204 | 9746432 | In-frame |
| ENST00000318950 | 9759759 | 9759867 | 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 |
| ENST00000318950 | 9770633 | 9770730 | Frame-shift |
| ENST00000318950 | 9735012 | 9735186 | In-frame |
| ENST00000318950 | 9746204 | 9746432 | In-frame |
| ENST00000318950 | 9759759 | 9759867 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for SWAP70 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000318950 | 4899 | 585 | 9735012 | 9735186 | 344 | 517 | 80 | 138 |
| ENST00000318950 | 4899 | 585 | 9746204 | 9746432 | 518 | 745 | 138 | 214 |
| ENST00000318950 | 4899 | 585 | 9759759 | 9759867 | 1184 | 1291 | 360 | 396 |
| 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 |
| ENST00000318950 | 4899 | 585 | 9735012 | 9735186 | 344 | 517 | 80 | 138 |
| ENST00000318950 | 4899 | 585 | 9746204 | 9746432 | 518 | 745 | 138 | 214 |
| ENST00000318950 | 4899 | 585 | 9759759 | 9759867 | 1184 | 1291 | 360 | 396 |
| 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 |
| Q9UH65 | 80 | 138 | 1 | 585 | Chain | ID=PRO_0000240280;Note=Switch-associated protein 70 |
| Q9UH65 | 138 | 214 | 212 | 220 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DN6 |
| Q9UH65 | 138 | 214 | 1 | 585 | Chain | ID=PRO_0000240280;Note=Switch-associated protein 70 |
| Q9UH65 | 138 | 214 | 210 | 306 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q9UH65 | 360 | 396 | 1 | 585 | Chain | ID=PRO_0000240280;Note=Switch-associated protein 70 |
| Q9UH65 | 360 | 396 | 316 | 539 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UH65 | 360 | 396 | 385 | 385 | Sequence conflict | Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9UH65 | 80 | 138 | 1 | 585 | Chain | ID=PRO_0000240280;Note=Switch-associated protein 70 |
| Q9UH65 | 138 | 214 | 212 | 220 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DN6 |
| Q9UH65 | 138 | 214 | 1 | 585 | Chain | ID=PRO_0000240280;Note=Switch-associated protein 70 |
| Q9UH65 | 138 | 214 | 210 | 306 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q9UH65 | 360 | 396 | 1 | 585 | Chain | ID=PRO_0000240280;Note=Switch-associated protein 70 |
| Q9UH65 | 360 | 396 | 316 | 539 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UH65 | 360 | 396 | 385 | 385 | Sequence conflict | Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Top |
SNVs in the skipped exons for SWAP70 |
| - 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. |
| - 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 |
| KICH | TCGA-KN-8432-01 | exon_skip_56886 | 9735013 | 9735186 | 9735070 | 9735070 | Frame_Shift_Del | A | - | p.K100fs |
| LIHC | TCGA-DD-A1EJ-01 | exon_skip_56886 | 9735013 | 9735186 | 9735070 | 9735070 | Frame_Shift_Del | A | - | p.K101fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_56886 | 9735013 | 9735186 | 9735142 | 9735142 | Frame_Shift_Del | T | - | p.F124fs |
| LUAD | TCGA-44-6774-01 | exon_skip_56891 | 9759760 | 9759867 | 9759806 | 9759806 | Frame_Shift_Del | G | - | p.R376fs |
| LGG | TCGA-DU-6397-02 | exon_skip_56886 | 9735013 | 9735186 | 9735069 | 9735070 | Frame_Shift_Ins | - | A | p.VK99fs |
| ESCA | TCGA-Z6-A8JD-01 | exon_skip_56891 | 9759760 | 9759867 | 9759811 | 9759811 | Nonsense_Mutation | C | T | p.Q378* |
| ESCA | TCGA-Z6-A8JD-01 | exon_skip_56891 | 9759760 | 9759867 | 9759811 | 9759811 | Nonsense_Mutation | C | T | p.Q378X |
| THYM | TCGA-X7-A8M1-01 | exon_skip_56891 | 9759760 | 9759867 | 9759823 | 9759823 | Nonsense_Mutation | G | T | p.E382* |
| THYM | TCGA-X7-A8M1-01 | exon_skip_56891 | 9759760 | 9759867 | 9759823 | 9759823 | Nonsense_Mutation | G | T | p.E382X |
| THYM | TCGA-ZC-AAAA-01 | exon_skip_56892 | 9770634 | 9770730 | 9770652 | 9770652 | Nonsense_Mutation | G | T | p.E525X |
| - 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 |
| SNU1_STOMACH | 9735013 | 9735186 | 9735070 | 9735070 | Frame_Shift_Del | A | - | p.K101fs |
| GP2D_LARGE_INTESTINE | 9735013 | 9735186 | 9735070 | 9735070 | Frame_Shift_Del | A | - | p.K101fs |
| GP5D_LARGE_INTESTINE | 9735013 | 9735186 | 9735070 | 9735070 | Frame_Shift_Del | A | - | p.K101fs |
| EN_ENDOMETRIUM | 9735013 | 9735186 | 9735069 | 9735070 | Frame_Shift_Ins | - | A | p.K100fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9735013 | 9735186 | 9735178 | 9735178 | Missense_Mutation | T | C | p.S136P |
| GB1_CENTRAL_NERVOUS_SYSTEM | 9746205 | 9746432 | 9746217 | 9746217 | Missense_Mutation | C | T | p.L143F |
| SNU1040_LARGE_INTESTINE | 9759760 | 9759867 | 9759806 | 9759806 | Missense_Mutation | G | A | p.R376H |
| ESO26_OESOPHAGUS | 9759760 | 9759867 | 9759841 | 9759841 | Missense_Mutation | A | C | p.S388R |
| AGS_STOMACH | 9770634 | 9770730 | 9770668 | 9770668 | Missense_Mutation | A | C | p.K530T |
| KM12_LARGE_INTESTINE | 9770634 | 9770730 | 9770695 | 9770695 | Missense_Mutation | C | T | p.A539V |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SWAP70 |
| 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_56889 | 11 | 9735012:9735186:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000524817.1,ENST00000318950.6,ENST00000526358.1 | BRCA | rs1695613 | chr11:9746201 | G/A | 1.68e-06 |
| exon_skip_56889 | 11 | 9735012:9735186:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000524817.1,ENST00000318950.6,ENST00000526358.1 | BRCA | rs1695613 | chr11:9746201 | G/A | 3.18e-03 |
| exon_skip_56889 | 11 | 9735012:9735186:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000524817.1,ENST00000318950.6,ENST00000526358.1 | KIRC | rs1695613 | chr11:9746201 | G/A | 2.77e-03 |
| exon_skip_56889 | 11 | 9735012:9735186:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000524817.1,ENST00000318950.6,ENST00000526358.1 | LUAD | rs1695613 | chr11:9746201 | G/A | 3.87e-06 |
| exon_skip_56889 | 11 | 9735012:9735186:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000524817.1,ENST00000318950.6,ENST00000526358.1 | LUSC | rs1695613 | chr11:9746201 | G/A | 3.75e-04 |
| exon_skip_56889 | 11 | 9735012:9735186:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000524817.1,ENST00000318950.6,ENST00000526358.1 | THCA | rs1695613 | chr11:9746201 | G/A | 5.01e-06 |
| exon_skip_56888 | 11 | 9715692:9715833:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000447399.2 | BRCA | rs1695613 | chr11:9746201 | G/A | 1.68e-06 |
| exon_skip_56888 | 11 | 9715692:9715833:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000447399.2 | BRCA | rs1695613 | chr11:9746201 | G/A | 3.18e-03 |
| exon_skip_56888 | 11 | 9715692:9715833:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000447399.2 | KIRC | rs1695613 | chr11:9746201 | G/A | 2.77e-03 |
| exon_skip_56888 | 11 | 9715692:9715833:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000447399.2 | LUAD | rs1695613 | chr11:9746201 | G/A | 3.87e-06 |
| exon_skip_56888 | 11 | 9715692:9715833:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000447399.2 | LUSC | rs1695613 | chr11:9746201 | G/A | 3.75e-04 |
| exon_skip_56888 | 11 | 9715692:9715833:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000447399.2 | THCA | rs1695613 | chr11:9746201 | G/A | 5.01e-06 |
| exon_skip_56890 | 11 | 9741612:9742030:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000534662.1 | BRCA | rs1695613 | chr11:9746201 | G/A | 1.68e-06 |
| exon_skip_56890 | 11 | 9741612:9742030:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000534662.1 | BRCA | rs1695613 | chr11:9746201 | G/A | 3.18e-03 |
| exon_skip_56890 | 11 | 9741612:9742030:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000534662.1 | KIRC | rs1695613 | chr11:9746201 | G/A | 2.77e-03 |
| exon_skip_56890 | 11 | 9741612:9742030:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000534662.1 | LUAD | rs1695613 | chr11:9746201 | G/A | 3.87e-06 |
| exon_skip_56890 | 11 | 9741612:9742030:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000534662.1 | LUSC | rs1695613 | chr11:9746201 | G/A | 3.75e-04 |
| exon_skip_56890 | 11 | 9741612:9742030:9746204:9746432:9749599:9749618 | 9746204:9746432 | ENST00000534662.1 | THCA | rs1695613 | chr11:9746201 | G/A | 5.01e-06 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SWAP70 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SWAP70 |
Top |
RelatedDrugs for SWAP70 |
| 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 |
Top |
RelatedDiseases for SWAP70 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|