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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 SPEN |
 Gene summary |
| Gene information | Gene symbol | SPEN | Gene ID | 23013 |
| Gene name | spen family transcriptional repressor | |
| Synonyms | HIAA0929|MINT|RBM15C|SHARP | |
| Cytomap | 1p36.21-p36.13 | |
| Type of gene | protein-coding | |
| Description | msx2-interacting proteinMsx2 interacting nuclear target (MINT) homologSMART/HDAC1-associated repressor proteinnuclear receptor transcription cofactorspen homolog, transcriptional regulator | |
| Modification date | 20180523 | |
| UniProtAcc | Q96T58 | |
| Context | PubMed: SPEN [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 |
| SPEN | GO:0000122 | negative regulation of transcription by RNA polymerase II | 16287852 |
| SPEN | GO:0045892 | negative regulation of transcription, DNA-templated | 16129689 |
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Exon skipping events across known transcript of Ensembl for SPEN 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 SPEN |
| 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 SPEN |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_1779 | 1 | 16199310:16199631:16202696:16203173:16235815:16235976 | 16202696:16203173 | ENSG00000065526.6 | ENST00000375759.3 |
| exon_skip_1782 | 1 | 16199996:16200890:16202696:16203173:16235815:16235976 | 16202696:16203173 | ENSG00000065526.6 | ENST00000438066.1 |
| exon_skip_1783 | 1 | 16235818:16235976:16237595:16237796:16242622:16242774 | 16237595:16237796 | ENSG00000065526.6 | ENST00000442985.1,ENST00000375759.3 |
| exon_skip_1784 | 1 | 16245420:16245546:16245898:16246012:16247364:16247401 | 16245898:16246012 | ENSG00000065526.6 | ENST00000442985.1,ENST00000375759.3 |
| exon_skip_1785 | 1 | 16245898:16246012:16247364:16247478:16248743:16248844 | 16247364:16247478 | ENSG00000065526.6 | ENST00000375759.3 |
| exon_skip_1792 | 1 | 16264306:16264501:16265212:16265371:16265790:16266039 | 16265212:16265371 | ENSG00000065526.6 | ENST00000375759.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SPEN |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_1779 | 1 | 16199310:16199631:16202696:16203173:16235815:16235976 | 16202696:16203173 | ENSG00000065526.6 | ENST00000375759.3 |
| exon_skip_1782 | 1 | 16199996:16200890:16202696:16203173:16235815:16235976 | 16202696:16203173 | ENSG00000065526.6 | ENST00000438066.1 |
| exon_skip_1783 | 1 | 16235818:16235976:16237595:16237796:16242622:16242774 | 16237595:16237796 | ENSG00000065526.6 | ENST00000375759.3,ENST00000442985.1 |
| exon_skip_1784 | 1 | 16245420:16245546:16245898:16246012:16247364:16247401 | 16245898:16246012 | ENSG00000065526.6 | ENST00000375759.3,ENST00000442985.1 |
| exon_skip_1785 | 1 | 16245898:16246012:16247364:16247478:16248743:16248844 | 16247364:16247478 | ENSG00000065526.6 | ENST00000375759.3 |
| exon_skip_1792 | 1 | 16264306:16264501:16265212:16265371:16265790:16266039 | 16265212:16265371 | ENSG00000065526.6 | ENST00000375759.3 |
| 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 SPEN |
| 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 |
| ENST00000375759 | 16202696 | 16203173 | In-frame |
| ENST00000375759 | 16237595 | 16237796 | In-frame |
| ENST00000375759 | 16245898 | 16246012 | In-frame |
| ENST00000375759 | 16247364 | 16247478 | In-frame |
| ENST00000375759 | 16265212 | 16265371 | 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 |
| ENST00000375759 | 16202696 | 16203173 | In-frame |
| ENST00000375759 | 16237595 | 16237796 | In-frame |
| ENST00000375759 | 16245898 | 16246012 | In-frame |
| ENST00000375759 | 16247364 | 16247478 | In-frame |
| ENST00000375759 | 16265212 | 16265371 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SPEN |
| 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 |
| ENST00000375759 | 12249 | 3664 | 16202696 | 16203173 | 609 | 1085 | 135 | 293 |
| ENST00000375759 | 12249 | 3664 | 16237595 | 16237796 | 1247 | 1447 | 347 | 414 |
| ENST00000375759 | 12249 | 3664 | 16245898 | 16246012 | 1726 | 1839 | 507 | 545 |
| ENST00000375759 | 12249 | 3664 | 16247364 | 16247478 | 1840 | 1953 | 545 | 583 |
| ENST00000375759 | 12249 | 3664 | 16265212 | 16265371 | 10909 | 11067 | 3568 | 3621 |
| 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 |
| ENST00000375759 | 12249 | 3664 | 16202696 | 16203173 | 609 | 1085 | 135 | 293 |
| ENST00000375759 | 12249 | 3664 | 16237595 | 16237796 | 1247 | 1447 | 347 | 414 |
| ENST00000375759 | 12249 | 3664 | 16245898 | 16246012 | 1726 | 1839 | 507 | 545 |
| ENST00000375759 | 12249 | 3664 | 16247364 | 16247478 | 1840 | 1953 | 545 | 583 |
| ENST00000375759 | 12249 | 3664 | 16265212 | 16265371 | 10909 | 11067 | 3568 | 3621 |
| 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 |
| Q96T58 | 135 | 293 | 1 | 3664 | Chain | ID=PRO_0000081627;Note=Msx2-interacting protein |
| Q96T58 | 135 | 293 | 125 | 277 | Compositional bias | Note=Arg-rich |
| Q96T58 | 135 | 293 | 240 | 325 | Compositional bias | Note=Ser-rich |
| Q96T58 | 135 | 293 | 1 | 573 | DNA binding | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96T58 | 135 | 293 | 188 | 188 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q96T58 | 135 | 293 | 190 | 190 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q96T58 | 347 | 414 | 365 | 371 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 347 | 414 | 378 | 385 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 347 | 414 | 407 | 410 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 347 | 414 | 1 | 3664 | Chain | ID=PRO_0000081627;Note=Msx2-interacting protein |
| Q96T58 | 347 | 414 | 1 | 573 | DNA binding | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96T58 | 347 | 414 | 335 | 415 | Domain | Note=RRM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q96T58 | 347 | 414 | 348 | 359 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 347 | 414 | 360 | 362 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 347 | 414 | 386 | 395 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 347 | 414 | 414 | 422 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 347 | 414 | 374 | 376 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 347 | 414 | 396 | 398 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 507 | 545 | 507 | 510 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 507 | 545 | 517 | 522 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 507 | 545 | 543 | 549 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 507 | 545 | 1 | 3664 | Chain | ID=PRO_0000081627;Note=Msx2-interacting protein |
| Q96T58 | 507 | 545 | 1 | 573 | DNA binding | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96T58 | 507 | 545 | 438 | 513 | Domain | Note=RRM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q96T58 | 507 | 545 | 517 | 589 | Domain | Note=RRM 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q96T58 | 507 | 545 | 530 | 537 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 507 | 545 | 538 | 540 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 545 | 583 | 543 | 549 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 545 | 583 | 554 | 560 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 545 | 583 | 575 | 577 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 545 | 583 | 583 | 586 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 545 | 583 | 1 | 3664 | Chain | ID=PRO_0000081627;Note=Msx2-interacting protein |
| Q96T58 | 545 | 583 | 1 | 573 | DNA binding | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96T58 | 545 | 583 | 517 | 589 | Domain | Note=RRM 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q96T58 | 545 | 583 | 562 | 572 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 545 | 583 | 550 | 553 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 3568 | 3621 | 3573 | 3580 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OW1 |
| Q96T58 | 3568 | 3621 | 3608 | 3614 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OW1 |
| Q96T58 | 3568 | 3621 | 1 | 3664 | Chain | ID=PRO_0000081627;Note=Msx2-interacting protein |
| Q96T58 | 3568 | 3621 | 3498 | 3664 | Domain | Note=SPOC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00249 |
| Q96T58 | 3568 | 3621 | 3585 | 3598 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OW1 |
| Q96T58 | 3568 | 3621 | 3600 | 3606 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OW1 |
| Q96T58 | 3568 | 3621 | 3570 | 3572 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OW1 |
| Q96T58 | 3568 | 3621 | 3617 | 3619 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RT5 |
| 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 |
| Q96T58 | 135 | 293 | 1 | 3664 | Chain | ID=PRO_0000081627;Note=Msx2-interacting protein |
| Q96T58 | 135 | 293 | 125 | 277 | Compositional bias | Note=Arg-rich |
| Q96T58 | 135 | 293 | 240 | 325 | Compositional bias | Note=Ser-rich |
| Q96T58 | 135 | 293 | 1 | 573 | DNA binding | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96T58 | 135 | 293 | 188 | 188 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q96T58 | 135 | 293 | 190 | 190 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q96T58 | 347 | 414 | 365 | 371 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 347 | 414 | 378 | 385 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 347 | 414 | 407 | 410 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 347 | 414 | 1 | 3664 | Chain | ID=PRO_0000081627;Note=Msx2-interacting protein |
| Q96T58 | 347 | 414 | 1 | 573 | DNA binding | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96T58 | 347 | 414 | 335 | 415 | Domain | Note=RRM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q96T58 | 347 | 414 | 348 | 359 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 347 | 414 | 360 | 362 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 347 | 414 | 386 | 395 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 347 | 414 | 414 | 422 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 347 | 414 | 374 | 376 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 347 | 414 | 396 | 398 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 507 | 545 | 507 | 510 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 507 | 545 | 517 | 522 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 507 | 545 | 543 | 549 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 507 | 545 | 1 | 3664 | Chain | ID=PRO_0000081627;Note=Msx2-interacting protein |
| Q96T58 | 507 | 545 | 1 | 573 | DNA binding | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96T58 | 507 | 545 | 438 | 513 | Domain | Note=RRM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q96T58 | 507 | 545 | 517 | 589 | Domain | Note=RRM 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q96T58 | 507 | 545 | 530 | 537 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 507 | 545 | 538 | 540 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 545 | 583 | 543 | 549 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 545 | 583 | 554 | 560 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 545 | 583 | 575 | 577 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 545 | 583 | 583 | 586 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 545 | 583 | 1 | 3664 | Chain | ID=PRO_0000081627;Note=Msx2-interacting protein |
| Q96T58 | 545 | 583 | 1 | 573 | DNA binding | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96T58 | 545 | 583 | 517 | 589 | Domain | Note=RRM 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q96T58 | 545 | 583 | 562 | 572 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 545 | 583 | 550 | 553 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Q |
| Q96T58 | 3568 | 3621 | 3573 | 3580 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OW1 |
| Q96T58 | 3568 | 3621 | 3608 | 3614 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OW1 |
| Q96T58 | 3568 | 3621 | 1 | 3664 | Chain | ID=PRO_0000081627;Note=Msx2-interacting protein |
| Q96T58 | 3568 | 3621 | 3498 | 3664 | Domain | Note=SPOC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00249 |
| Q96T58 | 3568 | 3621 | 3585 | 3598 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OW1 |
| Q96T58 | 3568 | 3621 | 3600 | 3606 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OW1 |
| Q96T58 | 3568 | 3621 | 3570 | 3572 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OW1 |
| Q96T58 | 3568 | 3621 | 3617 | 3619 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RT5 |
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SNVs in the skipped exons for SPEN |
| - 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 |
| UCS | TCGA-N5-A4RM-01 | exon_skip_1779 exon_skip_1782 | 16202697 | 16203173 | 16202965 | 16202978 | Frame_Shift_Del | ACCCGGGAGGTACG | - | p.224_229del |
| UCS | TCGA-N5-A4RM-01 | exon_skip_1779 exon_skip_1782 | 16202697 | 16203173 | 16202965 | 16202978 | Frame_Shift_Del | ACCCGGGAGGTACG | - | p.TREVR225fs |
| KIRC | TCGA-CJ-4901-01 | exon_skip_1779 exon_skip_1782 | 16202697 | 16203173 | 16203144 | 16203144 | Frame_Shift_Del | C | - | p.I284fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_1783 | 16237596 | 16237796 | 16237617 | 16237617 | Frame_Shift_Del | T | - | p.L355fs |
| STAD | TCGA-BR-4363-01 | exon_skip_1783 | 16237596 | 16237796 | 16237752 | 16237753 | Frame_Shift_Del | TT | - | p.400_400del |
| STAD | TCGA-BR-4363-01 | exon_skip_1783 | 16237596 | 16237796 | 16237752 | 16237753 | Frame_Shift_Del | TT | - | p.L400fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_1784 | 16245899 | 16246012 | 16245944 | 16245944 | Frame_Shift_Del | G | - | p.G523fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_1784 | 16245899 | 16246012 | 16245998 | 16245998 | Frame_Shift_Del | G | - | p.G541fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_1785 | 16247365 | 16247478 | 16247470 | 16247470 | Frame_Shift_Del | A | - | p.K581fs |
| BRCA | TCGA-E2-A105-01 | exon_skip_1779 exon_skip_1782 | 16202697 | 16203173 | 16202800 | 16202801 | Frame_Shift_Ins | - | ATAGAGATCCTCGA | p.P174fs |
| BRCA | TCGA-BH-A204-01 | exon_skip_1779 exon_skip_1782 | 16202697 | 16203173 | 16202935 | 16202936 | Frame_Shift_Ins | - | TA | p.H216fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_1784 | 16245899 | 16246012 | 16245903 | 16245904 | Frame_Shift_Ins | - | T | p.V509fs |
| SKCM | TCGA-EE-A2MJ-06 | exon_skip_1779 exon_skip_1782 | 16202697 | 16203173 | 16202812 | 16202812 | Nonsense_Mutation | C | T | p.R174* |
| SKCM | TCGA-EE-A3JD-06 | exon_skip_1783 | 16237596 | 16237796 | 16237594 | 16237594 | Splice_Site | A | G | . |
| - 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 |
| SISO_CERVIX | 16202697 | 16203173 | 16202752 | 16202753 | Frame_Shift_Ins | - | G | p.R154fs |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16202697 | 16203173 | 16202752 | 16202753 | Frame_Shift_Ins | - | G | p.R154fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 16202697 | 16203173 | 16202765 | 16202765 | Missense_Mutation | G | C | p.G158A |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16202697 | 16203173 | 16202765 | 16202765 | Missense_Mutation | G | C | p.G158A |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16202697 | 16203173 | 16202765 | 16202765 | Missense_Mutation | G | C | p.G158A |
| SNU175_LARGE_INTESTINE | 16202697 | 16203173 | 16202774 | 16202774 | Missense_Mutation | G | A | p.R161Q |
| SNU81_LARGE_INTESTINE | 16202697 | 16203173 | 16202858 | 16202858 | Missense_Mutation | G | A | p.R189Q |
| NCIH2087_LUNG | 16202697 | 16203173 | 16202881 | 16202881 | Missense_Mutation | C | T | p.H197Y |
| SW1573_LUNG | 16202697 | 16203173 | 16202887 | 16202887 | Missense_Mutation | C | T | p.P199S |
| LXF289_LUNG | 16202697 | 16203173 | 16202909 | 16202909 | Missense_Mutation | G | T | p.R206L |
| DETROIT562_UPPER_AERODIGESTIVE_TRACT | 16202697 | 16203173 | 16202963 | 16202963 | Missense_Mutation | T | C | p.I224T |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16202697 | 16203173 | 16203020 | 16203020 | Missense_Mutation | G | A | p.R243Q |
| PK45H_PANCREAS | 16202697 | 16203173 | 16203032 | 16203032 | Missense_Mutation | C | T | p.S247L |
| MM386_SKIN | 16202697 | 16203173 | 16203056 | 16203056 | Missense_Mutation | C | T | p.P255L |
| TC106_BONE | 16202697 | 16203173 | 16203083 | 16203083 | Missense_Mutation | G | A | p.R264K |
| HCC1937_BREAST | 16202697 | 16203173 | 16203095 | 16203095 | Missense_Mutation | C | T | p.S268F |
| RCCMF_KIDNEY | 16202697 | 16203173 | 16203138 | 16203138 | Missense_Mutation | T | G | p.D282E |
| RL952_ENDOMETRIUM | 16202697 | 16203173 | 16203155 | 16203155 | Missense_Mutation | G | A | p.S288N |
| SNU81_LARGE_INTESTINE | 16237596 | 16237796 | 16237699 | 16237699 | Missense_Mutation | C | A | p.F382L |
| HCC1569_BREAST | 16237596 | 16237796 | 16237763 | 16237763 | Missense_Mutation | A | G | p.M404V |
| MFE319_ENDOMETRIUM | 16245899 | 16246012 | 16245969 | 16245969 | Missense_Mutation | A | G | p.Q531R |
| CHSA0011_BONE | 16247365 | 16247478 | 16247378 | 16247378 | Missense_Mutation | G | A | p.R550H |
| HS343T_FIBROBLAST | 16265213 | 16265371 | 16265322 | 16265322 | Missense_Mutation | C | T | p.A3605V |
| HEC1_ENDOMETRIUM | 16265213 | 16265371 | 16265331 | 16265331 | Missense_Mutation | C | T | p.A3608V |
| HCE4_OESOPHAGUS | 16202697 | 16203173 | 16203140 | 16203140 | Nonsense_Mutation | C | A | p.S283* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPEN |
| 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 SPEN |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPEN |
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RelatedDrugs for SPEN |
| 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 SPEN |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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