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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 SYNE2 |
 Gene summary |
| Gene information | Gene symbol | SYNE2 | Gene ID | 23224 |
| Gene name | spectrin repeat containing nuclear envelope protein 2 | |
| Synonyms | EDMD5|KASH2|NUA|NUANCE|Nesp2|Nesprin-2|SYNE-2|TROPH | |
| Cytomap | 14q23.2 | |
| Type of gene | protein-coding | |
| Description | nesprin-2KASH domain-containing protein 2nesprin 2nuclear envelope spectrin repeat protein 2nucleus and actin connecting element proteinpolytrophinspectrin repeat containing, nuclear envelope 2synaptic nuclear envelope protein 2synaptic nuclei exp | |
| Modification date | 20180523 | |
| UniProtAcc | Q8WXH0 | |
| Context | PubMed: SYNE2 [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 |
| SYNE2 | GO:0090286 | cytoskeletal anchoring at nuclear membrane | 18396275 |
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Exon skipping events across known transcript of Ensembl for SYNE2 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 SYNE2 |
| 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 SYNE2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_107267 | 14 | 64407331:64407393:64408412:64408508:64408602:64408680 | 64408412:64408508 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000344113.4,ENST00000554584.1,ENST00000356081.3,ENST00000341472.5 |
| exon_skip_107268 | 14 | 64428242:64428343:64430616:64430718:64434426:64434564 | 64430616:64430718 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000344113.4,ENST00000554584.1 |
| exon_skip_107269 | 14 | 64453173:64453335:64457128:64457287:64457659:64457833 | 64457128:64457287 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000344113.4,ENST00000554584.1 |
| exon_skip_107270 | 14 | 64460552:64460687:64461761:64461920:64463664:64463876 | 64461761:64461920 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000344113.4,ENST00000554584.1 |
| exon_skip_107271 | 14 | 64469741:64470048:64473760:64473940:64476683:64476834 | 64473760:64473940 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000344113.4,ENST00000554584.1,ENST00000557005.1 |
| exon_skip_107272 | 14 | 64473760:64473940:64476683:64476834:64483190:64483349 | 64476683:64476834 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000344113.4,ENST00000554584.1,ENST00000557005.1 |
| exon_skip_107273 | 14 | 64496612:64496777:64497733:64498075:64514717:64514873 | 64497733:64498075 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000344113.4,ENST00000557005.1 |
| exon_skip_107274 | 14 | 64497733:64498075:64501211:64501310:64514717:64514873 | 64501211:64501310 | ENSG00000054654.11 | ENST00000554584.1 |
| exon_skip_107276 | 14 | 64497733:64498075:64514717:64514873:64516328:64516594 | 64514717:64514873 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000344113.4 |
| exon_skip_107278 | 14 | 64540705:64540854:64542662:64542818:64545183:64545324 | 64542662:64542818 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000557060.1,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1 |
| exon_skip_107280 | 14 | 64548160:64548298:64554136:64554205:64554388:64554574 | 64554136:64554205 | ENSG00000054654.11 | ENST00000357395.3,ENST00000394768.2 |
| exon_skip_107283 | 14 | 64565464:64565539:64568649:64568760:64574208:64574325 | 64568649:64568760 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000394768.2,ENST00000553308.1,ENST00000344113.4,ENST00000555002.1 |
| exon_skip_107285 | 14 | 64568703:64568760:64574208:64574325:64580058:64580289 | 64574208:64574325 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000394768.2,ENST00000553308.1,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1 |
| exon_skip_107286 | 14 | 64574208:64574325:64580058:64580289:64586144:64586327 | 64580058:64580289 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1 |
| exon_skip_107287 | 14 | 64580058:64580289:64586144:64586327:64587644:64587779 | 64586144:64586327 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1 |
| exon_skip_107291 | 14 | 64586147:64586327:64587644:64587779:64588729:64588851 | 64587644:64587779 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000553455.1,ENST00000394768.2,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1 |
| exon_skip_107292 | 14 | 64593315:64593525:64595169:64595271:64596499:64596619 | 64595169:64595271 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000555002.1 |
| exon_skip_107295 | 14 | 64596765:64596966:64598982:64599156:64600786:64600918 | 64598982:64599156 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1 |
| exon_skip_107296 | 14 | 64600786:64600918:64604504:64604701:64606658:64606791 | 64604504:64604701 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1 |
| exon_skip_107297 | 14 | 64604504:64604701:64606658:64606791:64608058:64608241 | 64606658:64606791 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1 |
| exon_skip_107299 | 14 | 64628831:64628994:64630119:64630299:64632002:64632128 | 64630119:64630299 | ENSG00000054654.11 | ENST00000357395.3,ENST00000555612.1,ENST00000358025.3,ENST00000553289.1,ENST00000394768.2,ENST00000344113.4,ENST00000555002.1 |
| exon_skip_107301 | 14 | 64630172:64630299:64632002:64632128:64633950:64634105 | 64632002:64632128 | ENSG00000054654.11 | ENST00000357395.3,ENST00000555612.1,ENST00000358025.3,ENST00000553289.1,ENST00000394768.2,ENST00000344113.4,ENST00000555002.1 |
| exon_skip_107303 | 14 | 64644075:64644201:64653141:64653297:64655267:64655426 | 64653141:64653297 | ENSG00000054654.11 | ENST00000357395.3,ENST00000555612.1,ENST00000358025.3,ENST00000553289.1,ENST00000394768.2,ENST00000344113.4,ENST00000555002.1 |
| exon_skip_107308 | 14 | 64655267:64655426:64656788:64656955:64669518:64669681 | 64656788:64656955 | ENSG00000054654.11 | ENST00000357395.3,ENST00000555612.1,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000555002.1 |
| exon_skip_107309 | 14 | 64656788:64656955:64669518:64669681:64675475:64675663 | 64669518:64669681 | ENSG00000054654.11 | ENST00000357395.3,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000555002.1 |
| exon_skip_107313 | 14 | 64663501:64663822:64669555:64669681:64675475:64675663 | 64669555:64669681 | ENSG00000054654.11 | ENST00000555241.1 |
| exon_skip_107315 | 14 | 64669555:64669681:64674675:64674910:64675475:64675663 | 64674675:64674910 | ENSG00000054654.11 | ENST00000555612.1 |
| exon_skip_107320 | 14 | 64676668:64676842:64678678:64678816:64679528:64679584 | 64678678:64678816 | ENSG00000054654.11 | ENST00000357395.3,ENST00000555612.1,ENST00000555022.1,ENST00000358025.3,ENST00000553289.1,ENST00000554805.1,ENST00000394768.2,ENST00000553806.1,ENST00000344113.4,ENST00000554584.1,ENST00000554997.1,ENST00000555002.1 |
| exon_skip_107322 | 14 | 64680911:64681188:64682003:64682072:64682965:64683105 | 64682003:64682072 | ENSG00000054654.11 | ENST00000358025.3,ENST00000458046.2,ENST00000555002.1 |
| exon_skip_107325 | 14 | 64680911:64681188:64682965:64683105:64685115:64685230 | 64682965:64683105 | ENSG00000054654.11 | ENST00000357395.3,ENST00000557084.1,ENST00000555612.1,ENST00000555022.1,ENST00000553289.1,ENST00000554805.1,ENST00000394768.2,ENST00000344113.4 |
| exon_skip_107328 | 14 | 64682965:64683105:64685115:64685230:64685925:64686032 | 64685115:64685230 | ENSG00000054654.11 | ENST00000357395.3,ENST00000557084.1,ENST00000555612.1,ENST00000555022.1,ENST00000358025.3,ENST00000553289.1,ENST00000554805.1,ENST00000394768.2,ENST00000441438.2,ENST00000344113.4,ENST00000458046.2,ENST00000555002.1 |
| exon_skip_107330 | 14 | 64685925:64686128:64687154:64687355:64688293:64688422 | 64687154:64687355 | ENSG00000054654.11 | ENST00000357395.3,ENST00000555022.1,ENST00000358025.3,ENST00000553289.1,ENST00000554805.1,ENST00000394768.2,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1 |
| exon_skip_107331 | 14 | 64687154:64687355:64688251:64688422:64689906:64690098 | 64688251:64688422 | ENSG00000054654.11 | ENST00000555612.1,ENST00000554928.1,ENST00000441438.2,ENST00000458046.2 |
| exon_skip_107332 | 14 | 64687154:64687355:64688293:64688422:64689906:64690098 | 64688293:64688422 | ENSG00000054654.11 | ENST00000357395.3,ENST00000555022.1,ENST00000358025.3,ENST00000553289.1,ENST00000554805.1,ENST00000394768.2,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SYNE2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_107268 | 14 | 64428242:64428343:64430616:64430718:64434426:64434564 | 64430616:64430718 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000554584.1 |
| exon_skip_107269 | 14 | 64453173:64453335:64457128:64457287:64457659:64457833 | 64457128:64457287 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000554584.1 |
| exon_skip_107270 | 14 | 64460552:64460687:64461761:64461920:64463664:64463876 | 64461761:64461920 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000554584.1 |
| exon_skip_107271 | 14 | 64469741:64470048:64473760:64473940:64476683:64476834 | 64473760:64473940 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000554584.1,ENST00000557005.1 |
| exon_skip_107272 | 14 | 64473760:64473940:64476683:64476834:64483190:64483349 | 64476683:64476834 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000554584.1,ENST00000557005.1 |
| exon_skip_107273 | 14 | 64496612:64496777:64497733:64498075:64514717:64514873 | 64497733:64498075 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000557005.1 |
| exon_skip_107274 | 14 | 64497733:64498075:64501211:64501310:64514717:64514873 | 64501211:64501310 | ENSG00000054654.11 | ENST00000554584.1 |
| exon_skip_107276 | 14 | 64497733:64498075:64514717:64514873:64516328:64516594 | 64514717:64514873 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4 |
| exon_skip_107278 | 14 | 64540705:64540854:64542662:64542818:64545183:64545324 | 64542662:64542818 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1,ENST00000557060.1 |
| exon_skip_107280 | 14 | 64548160:64548298:64554136:64554205:64554388:64554574 | 64554136:64554205 | ENSG00000054654.11 | ENST00000357395.3,ENST00000394768.2 |
| exon_skip_107283 | 14 | 64565464:64565539:64568649:64568760:64574208:64574325 | 64568649:64568760 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000555002.1,ENST00000394768.2,ENST00000553308.1 |
| exon_skip_107285 | 14 | 64568703:64568760:64574208:64574325:64580058:64580289 | 64574208:64574325 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1,ENST00000394768.2,ENST00000553308.1 |
| exon_skip_107286 | 14 | 64574208:64574325:64580058:64580289:64586144:64586327 | 64580058:64580289 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1,ENST00000394768.2 |
| exon_skip_107287 | 14 | 64580058:64580289:64586144:64586327:64587644:64587779 | 64586144:64586327 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1,ENST00000394768.2 |
| exon_skip_107291 | 14 | 64586147:64586327:64587644:64587779:64588729:64588851 | 64587644:64587779 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1,ENST00000394768.2,ENST00000553455.1 |
| exon_skip_107292 | 14 | 64593315:64593525:64595169:64595271:64596499:64596619 | 64595169:64595271 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000555002.1,ENST00000394768.2 |
| exon_skip_107295 | 14 | 64596765:64596966:64598982:64599156:64600786:64600918 | 64598982:64599156 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1,ENST00000394768.2 |
| exon_skip_107296 | 14 | 64600786:64600918:64604504:64604701:64606658:64606791 | 64604504:64604701 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1,ENST00000394768.2 |
| exon_skip_107297 | 14 | 64604504:64604701:64606658:64606791:64608058:64608241 | 64606658:64606791 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1,ENST00000394768.2 |
| exon_skip_107299 | 14 | 64628831:64628994:64630119:64630299:64632002:64632128 | 64630119:64630299 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000555002.1,ENST00000394768.2,ENST00000555612.1,ENST00000553289.1 |
| exon_skip_107303 | 14 | 64644075:64644201:64653141:64653297:64655267:64655426 | 64653141:64653297 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000555002.1,ENST00000394768.2,ENST00000555612.1,ENST00000553289.1 |
| exon_skip_107308 | 14 | 64655267:64655426:64656788:64656955:64669518:64669681 | 64656788:64656955 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000555002.1,ENST00000394768.2,ENST00000555612.1 |
| exon_skip_107309 | 14 | 64656788:64656955:64669518:64669681:64675475:64675663 | 64669518:64669681 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000555002.1,ENST00000394768.2 |
| exon_skip_107313 | 14 | 64663501:64663822:64669555:64669681:64675475:64675663 | 64669555:64669681 | ENSG00000054654.11 | ENST00000555241.1 |
| exon_skip_107315 | 14 | 64669555:64669681:64674675:64674910:64675475:64675663 | 64674675:64674910 | ENSG00000054654.11 | ENST00000555612.1 |
| exon_skip_107320 | 14 | 64676668:64676842:64678678:64678816:64679528:64679584 | 64678678:64678816 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1,ENST00000394768.2,ENST00000555612.1,ENST00000553289.1,ENST00000555022.1,ENST00000553806.1,ENST00000554805.1,ENST00000554997.1 |
| exon_skip_107322 | 14 | 64680911:64681188:64682003:64682072:64682965:64683105 | 64682003:64682072 | ENSG00000054654.11 | ENST00000358025.3,ENST00000555002.1,ENST00000458046.2 |
| exon_skip_107325 | 14 | 64680911:64681188:64682965:64683105:64685115:64685230 | 64682965:64683105 | ENSG00000054654.11 | ENST00000357395.3,ENST00000344113.4,ENST00000394768.2,ENST00000555612.1,ENST00000553289.1,ENST00000555022.1,ENST00000554805.1,ENST00000557084.1 |
| exon_skip_107328 | 14 | 64682965:64683105:64685115:64685230:64685925:64686032 | 64685115:64685230 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000555002.1,ENST00000394768.2,ENST00000555612.1,ENST00000553289.1,ENST00000555022.1,ENST00000554805.1,ENST00000557084.1,ENST00000458046.2,ENST00000441438.2 |
| exon_skip_107330 | 14 | 64685925:64686128:64687154:64687355:64688293:64688422 | 64687154:64687355 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1,ENST00000394768.2,ENST00000553289.1,ENST00000555022.1,ENST00000554805.1 |
| exon_skip_107331 | 14 | 64687154:64687355:64688251:64688422:64689906:64690098 | 64688251:64688422 | ENSG00000054654.11 | ENST00000555612.1,ENST00000458046.2,ENST00000441438.2,ENST00000554928.1 |
| exon_skip_107332 | 14 | 64687154:64687355:64688293:64688422:64689906:64690098 | 64688293:64688422 | ENSG00000054654.11 | ENST00000358025.3,ENST00000357395.3,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1,ENST00000394768.2,ENST00000553289.1,ENST00000555022.1,ENST00000554805.1 |
| 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 SYNE2 |
| 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 |
| ENST00000344113 | 64476683 | 64476834 | Frame-shift |
| ENST00000344113 | 64604504 | 64604701 | Frame-shift |
| ENST00000344113 | 64606658 | 64606791 | Frame-shift |
| ENST00000344113 | 64656788 | 64656955 | Frame-shift |
| ENST00000344113 | 64669518 | 64669681 | Frame-shift |
| ENST00000344113 | 64682965 | 64683105 | Frame-shift |
| ENST00000344113 | 64685115 | 64685230 | Frame-shift |
| ENST00000344113 | 64408412 | 64408508 | In-frame |
| ENST00000344113 | 64430616 | 64430718 | In-frame |
| ENST00000344113 | 64457128 | 64457287 | In-frame |
| ENST00000344113 | 64461761 | 64461920 | In-frame |
| ENST00000344113 | 64473760 | 64473940 | In-frame |
| ENST00000344113 | 64497733 | 64498075 | In-frame |
| ENST00000344113 | 64514717 | 64514873 | In-frame |
| ENST00000344113 | 64542662 | 64542818 | In-frame |
| ENST00000344113 | 64568649 | 64568760 | In-frame |
| ENST00000344113 | 64574208 | 64574325 | In-frame |
| ENST00000344113 | 64580058 | 64580289 | In-frame |
| ENST00000344113 | 64586144 | 64586327 | In-frame |
| ENST00000344113 | 64587644 | 64587779 | In-frame |
| ENST00000344113 | 64595169 | 64595271 | In-frame |
| ENST00000344113 | 64598982 | 64599156 | In-frame |
| ENST00000344113 | 64630119 | 64630299 | In-frame |
| ENST00000344113 | 64632002 | 64632128 | In-frame |
| ENST00000344113 | 64653141 | 64653297 | In-frame |
| ENST00000344113 | 64678678 | 64678816 | In-frame |
| ENST00000344113 | 64687154 | 64687355 | In-frame |
| ENST00000344113 | 64688293 | 64688422 | 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 |
| ENST00000344113 | 64476683 | 64476834 | Frame-shift |
| ENST00000344113 | 64604504 | 64604701 | Frame-shift |
| ENST00000344113 | 64606658 | 64606791 | Frame-shift |
| ENST00000344113 | 64656788 | 64656955 | Frame-shift |
| ENST00000344113 | 64669518 | 64669681 | Frame-shift |
| ENST00000344113 | 64682965 | 64683105 | Frame-shift |
| ENST00000344113 | 64685115 | 64685230 | Frame-shift |
| ENST00000344113 | 64430616 | 64430718 | In-frame |
| ENST00000344113 | 64457128 | 64457287 | In-frame |
| ENST00000344113 | 64461761 | 64461920 | In-frame |
| ENST00000344113 | 64473760 | 64473940 | In-frame |
| ENST00000344113 | 64497733 | 64498075 | In-frame |
| ENST00000344113 | 64514717 | 64514873 | In-frame |
| ENST00000344113 | 64542662 | 64542818 | In-frame |
| ENST00000344113 | 64568649 | 64568760 | In-frame |
| ENST00000344113 | 64574208 | 64574325 | In-frame |
| ENST00000344113 | 64580058 | 64580289 | In-frame |
| ENST00000344113 | 64586144 | 64586327 | In-frame |
| ENST00000344113 | 64587644 | 64587779 | In-frame |
| ENST00000344113 | 64595169 | 64595271 | In-frame |
| ENST00000344113 | 64598982 | 64599156 | In-frame |
| ENST00000344113 | 64630119 | 64630299 | In-frame |
| ENST00000344113 | 64653141 | 64653297 | In-frame |
| ENST00000344113 | 64678678 | 64678816 | In-frame |
| ENST00000344113 | 64687154 | 64687355 | In-frame |
| ENST00000344113 | 64688293 | 64688422 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for SYNE2 |
| 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 |
| ENST00000344113 | 21794 | 6885 | 64408412 | 64408508 | 354 | 449 | 47 | 79 |
| ENST00000344113 | 21794 | 6885 | 64430616 | 64430718 | 1101 | 1202 | 296 | 330 |
| ENST00000344113 | 21794 | 6885 | 64457128 | 64457287 | 2526 | 2684 | 771 | 824 |
| ENST00000344113 | 21794 | 6885 | 64461761 | 64461920 | 2994 | 3152 | 927 | 980 |
| ENST00000344113 | 21794 | 6885 | 64473760 | 64473940 | 4610 | 4789 | 1466 | 1525 |
| ENST00000344113 | 21794 | 6885 | 64497733 | 64498075 | 7092 | 7433 | 2293 | 2407 |
| ENST00000344113 | 21794 | 6885 | 64514717 | 64514873 | 7434 | 7589 | 2407 | 2459 |
| ENST00000344113 | 21794 | 6885 | 64542662 | 64542818 | 11079 | 11234 | 3622 | 3674 |
| ENST00000344113 | 21794 | 6885 | 64568649 | 64568760 | 12594 | 12704 | 4127 | 4164 |
| ENST00000344113 | 21794 | 6885 | 64574208 | 64574325 | 12705 | 12821 | 4164 | 4203 |
| ENST00000344113 | 21794 | 6885 | 64580058 | 64580289 | 12822 | 13052 | 4203 | 4280 |
| ENST00000344113 | 21794 | 6885 | 64586144 | 64586327 | 13053 | 13235 | 4280 | 4341 |
| ENST00000344113 | 21794 | 6885 | 64587644 | 64587779 | 13236 | 13370 | 4341 | 4386 |
| ENST00000344113 | 21794 | 6885 | 64595169 | 64595271 | 14130 | 14231 | 4639 | 4673 |
| ENST00000344113 | 21794 | 6885 | 64598982 | 64599156 | 14553 | 14726 | 4780 | 4838 |
| ENST00000344113 | 21794 | 6885 | 64630119 | 64630299 | 16512 | 16691 | 5433 | 5493 |
| ENST00000344113 | 21794 | 6885 | 64632002 | 64632128 | 16692 | 16817 | 5493 | 5535 |
| ENST00000344113 | 21794 | 6885 | 64653141 | 64653297 | 17769 | 17924 | 5852 | 5904 |
| ENST00000344113 | 21794 | 6885 | 64678678 | 64678816 | 18936 | 19073 | 6241 | 6287 |
| ENST00000344113 | 21794 | 6885 | 64687154 | 64687355 | 20004 | 20204 | 6597 | 6664 |
| ENST00000344113 | 21794 | 6885 | 64688293 | 64688422 | 20205 | 20333 | 6664 | 6707 |
| 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 |
| ENST00000344113 | 21794 | 6885 | 64430616 | 64430718 | 1101 | 1202 | 296 | 330 |
| ENST00000344113 | 21794 | 6885 | 64457128 | 64457287 | 2526 | 2684 | 771 | 824 |
| ENST00000344113 | 21794 | 6885 | 64461761 | 64461920 | 2994 | 3152 | 927 | 980 |
| ENST00000344113 | 21794 | 6885 | 64473760 | 64473940 | 4610 | 4789 | 1466 | 1525 |
| ENST00000344113 | 21794 | 6885 | 64497733 | 64498075 | 7092 | 7433 | 2293 | 2407 |
| ENST00000344113 | 21794 | 6885 | 64514717 | 64514873 | 7434 | 7589 | 2407 | 2459 |
| ENST00000344113 | 21794 | 6885 | 64542662 | 64542818 | 11079 | 11234 | 3622 | 3674 |
| ENST00000344113 | 21794 | 6885 | 64568649 | 64568760 | 12594 | 12704 | 4127 | 4164 |
| ENST00000344113 | 21794 | 6885 | 64574208 | 64574325 | 12705 | 12821 | 4164 | 4203 |
| ENST00000344113 | 21794 | 6885 | 64580058 | 64580289 | 12822 | 13052 | 4203 | 4280 |
| ENST00000344113 | 21794 | 6885 | 64586144 | 64586327 | 13053 | 13235 | 4280 | 4341 |
| ENST00000344113 | 21794 | 6885 | 64587644 | 64587779 | 13236 | 13370 | 4341 | 4386 |
| ENST00000344113 | 21794 | 6885 | 64595169 | 64595271 | 14130 | 14231 | 4639 | 4673 |
| ENST00000344113 | 21794 | 6885 | 64598982 | 64599156 | 14553 | 14726 | 4780 | 4838 |
| ENST00000344113 | 21794 | 6885 | 64630119 | 64630299 | 16512 | 16691 | 5433 | 5493 |
| ENST00000344113 | 21794 | 6885 | 64653141 | 64653297 | 17769 | 17924 | 5852 | 5904 |
| ENST00000344113 | 21794 | 6885 | 64678678 | 64678816 | 18936 | 19073 | 6241 | 6287 |
| ENST00000344113 | 21794 | 6885 | 64687154 | 64687355 | 20004 | 20204 | 6597 | 6664 |
| ENST00000344113 | 21794 | 6885 | 64688293 | 64688422 | 20205 | 20333 | 6664 | 6707 |
| 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 |
Top |
SNVs in the skipped exons for SYNE2 |
| - 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 |
| KIRC | TCGA-CZ-4853-01 | exon_skip_107269 | 64457129 | 64457287 | 64457262 | 64457262 | Frame_Shift_Del | T | - | p.I816fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_107271 | 64473761 | 64473940 | 64473868 | 64473868 | Frame_Shift_Del | A | - | p.E1502fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_107271 | 64473761 | 64473940 | 64473892 | 64473892 | Frame_Shift_Del | A | - | p.Q1510fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_107271 | 64473761 | 64473940 | 64473910 | 64473910 | Frame_Shift_Del | G | - | p.W1516fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_107271 | 64473761 | 64473940 | 64473925 | 64473925 | Frame_Shift_Del | C | - | p.A1521fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_107272 | 64476684 | 64476834 | 64476820 | 64476820 | Frame_Shift_Del | A | - | p.K1572fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_107276 | 64514718 | 64514873 | 64514778 | 64514778 | Frame_Shift_Del | A | - | p.K2428fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_107285 | 64574209 | 64574325 | 64574306 | 64574306 | Frame_Shift_Del | G | - | p.R582fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_107295 | 64598983 | 64599156 | 64599100 | 64599100 | Frame_Shift_Del | A | - | p.K1205fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_107295 | 64598983 | 64599156 | 64599113 | 64599113 | Frame_Shift_Del | A | - | p.E1209fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_107295 | 64598983 | 64599156 | 64599125 | 64599125 | Frame_Shift_Del | A | - | p.Q1213fs |
| LUAD | TCGA-67-3771-01 | exon_skip_107297 | 64606659 | 64606791 | 64606758 | 64606758 | Frame_Shift_Del | G | - | p.L1366fs |
| LUAD | TCGA-67-3771-01 | exon_skip_107297 | 64606659 | 64606791 | 64606758 | 64606758 | Frame_Shift_Del | G | - | p.L4981fs |
| STAD | TCGA-B7-5816-01 | exon_skip_107297 | 64606659 | 64606791 | 64606785 | 64606785 | Frame_Shift_Del | T | - | p.N4990fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_107301 | 64632003 | 64632128 | 64632109 | 64632109 | Frame_Shift_Del | A | - | p.E1914fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_107303 | 64653142 | 64653297 | 64653254 | 64653254 | Frame_Shift_Del | A | - | p.Q2275fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_107325 | 64682966 | 64683105 | 64683070 | 64683070 | Frame_Shift_Del | C | - | p.P2866fs |
| BRCA | TCGA-D8-A27N-01 | exon_skip_107330 | 64687155 | 64687355 | 64687206 | 64687212 | Frame_Shift_Del | GTGAGCA | - | p.V6638fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_107330 | 64687155 | 64687355 | 64687238 | 64687238 | Frame_Shift_Del | C | - | p.S3010fs |
| STAD | TCGA-CG-5728-01 | exon_skip_107291 | 64587645 | 64587779 | 64587756 | 64587757 | Frame_Shift_Ins | - | A | p.Q4379fs |
| STAD | TCGA-CG-5728-01 | exon_skip_107291 | 64587645 | 64587779 | 64587757 | 64587758 | Frame_Shift_Ins | - | A | p.Q4379fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_107296 | 64604505 | 64604701 | 64604527 | 64604528 | Frame_Shift_Ins | - | A | p.E1275fs |
| COAD | TCGA-DM-A28F-01 | exon_skip_107330 | 64687155 | 64687355 | 64687314 | 64687315 | Frame_Shift_Ins | - | G | p.S182fs |
| BLCA | TCGA-DK-A3IU-01 | exon_skip_107269 | 64457129 | 64457287 | 64457211 | 64457211 | Nonsense_Mutation | C | G | p.S799* |
| LIHC | TCGA-DD-A39V-01 | exon_skip_107273 | 64497734 | 64498075 | 64497758 | 64497758 | Nonsense_Mutation | C | T | p.Q2302* |
| LIHC | TCGA-DD-A39V-01 | exon_skip_107273 | 64497734 | 64498075 | 64497758 | 64497758 | Nonsense_Mutation | C | T | p.Q2302X |
| HNSC | TCGA-CV-A6JE-01 | exon_skip_107273 | 64497734 | 64498075 | 64497902 | 64497902 | Nonsense_Mutation | A | T | p.K2350* |
| STAD | TCGA-BR-4184-01 | exon_skip_107278 | 64542663 | 64542818 | 64542723 | 64542723 | Nonsense_Mutation | C | T | p.R3643* |
| STAD | TCGA-BR-4184-01 | exon_skip_107278 | 64542663 | 64542818 | 64542723 | 64542723 | Nonsense_Mutation | C | T | p.R3643X |
| STAD | TCGA-BR-8680-01 | exon_skip_107278 | 64542663 | 64542818 | 64542723 | 64542723 | Nonsense_Mutation | C | T | p.R3643* |
| STAD | TCGA-BR-8680-01 | exon_skip_107278 | 64542663 | 64542818 | 64542723 | 64542723 | Nonsense_Mutation | C | T | p.R3643X |
| UCEC | TCGA-AX-A0J1-01 | exon_skip_107278 | 64542663 | 64542818 | 64542723 | 64542723 | Nonsense_Mutation | C | T | p.R3643* |
| BLCA | TCGA-LT-A5Z6-01 | exon_skip_107283 | 64568650 | 64568760 | 64568722 | 64568722 | Nonsense_Mutation | G | T | p.E537* |
| LUSC | TCGA-34-5231-01 | exon_skip_107283 | 64568650 | 64568760 | 64568746 | 64568746 | Nonsense_Mutation | G | T | p.G4160* |
| LUAD | TCGA-86-8073-01 | exon_skip_107291 | 64587645 | 64587779 | 64587670 | 64587670 | Nonsense_Mutation | C | A | p.S735* |
| SKCM | TCGA-EE-A3J5-06 | exon_skip_107299 | 64630120 | 64630299 | 64630183 | 64630183 | Nonsense_Mutation | C | T | p.R1840* |
| SKCM | TCGA-EE-A3J5-06 | exon_skip_107299 | 64630120 | 64630299 | 64630183 | 64630183 | Nonsense_Mutation | C | T | p.R5455X |
| LUAD | TCGA-05-4410-01 | exon_skip_107303 | 64653142 | 64653297 | 64653253 | 64653253 | Nonsense_Mutation | C | T | p.Q2275* |
| LUAD | TCGA-05-4410-01 | exon_skip_107303 | 64653142 | 64653297 | 64653253 | 64653253 | Nonsense_Mutation | C | T | p.Q5890* |
| BLCA | TCGA-MV-A51V-01 | exon_skip_107320 | 64678679 | 64678816 | 64678779 | 64678779 | Nonsense_Mutation | C | G | p.S2660* |
| COAD | TCGA-D5-6928-01 | exon_skip_107270 | 64461762 | 64461920 | 64461922 | 64461922 | Splice_Site | T | C | . |
| GBM | TCGA-28-5211-01 | exon_skip_107273 | 64497734 | 64498075 | 64497733 | 64497733 | Splice_Site | G | A | p.E2294_splice |
| PAAD | TCGA-IB-7651-01 | exon_skip_107278 | 64542663 | 64542818 | 64542662 | 64542662 | Splice_Site | G | T | . |
| - 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 |
| AN3CA_ENDOMETRIUM | 64514718 | 64514873 | 64514825 | 64514825 | Frame_Shift_Del | T | - | p.P2443fs |
| DU145_PROSTATE | 64606659 | 64606791 | 64606785 | 64606785 | Frame_Shift_Del | T | - | p.N4990fs |
| MCC13_SKIN | 64685116 | 64685230 | 64685196 | 64685197 | Frame_Shift_Ins | - | GG | p.G6519fs |
| SNU175_LARGE_INTESTINE | 64408413 | 64408508 | 64408464 | 64408464 | Missense_Mutation | C | T | p.H65Y |
| SNU81_LARGE_INTESTINE | 64430617 | 64430718 | 64430629 | 64430629 | Missense_Mutation | G | T | p.D301Y |
| SW480_LARGE_INTESTINE | 64430617 | 64430718 | 64430714 | 64430714 | Missense_Mutation | A | G | p.Y329C |
| SNU407_LARGE_INTESTINE | 64457129 | 64457287 | 64457144 | 64457144 | Missense_Mutation | G | T | p.G777C |
| CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64457129 | 64457287 | 64457162 | 64457162 | Missense_Mutation | C | T | p.L783F |
| CAOV3_OVARY | 64457129 | 64457287 | 64457163 | 64457163 | Missense_Mutation | T | C | p.L783P |
| NCIH748_LUNG | 64461762 | 64461920 | 64461838 | 64461838 | Missense_Mutation | T | A | p.I953N |
| HCC1195_LUNG | 64461762 | 64461920 | 64461838 | 64461838 | Missense_Mutation | T | A | p.I953N |
| HUO3N1_BONE | 64461762 | 64461920 | 64461863 | 64461863 | Missense_Mutation | T | G | p.N961K |
| OCUM1_STOMACH | 64461762 | 64461920 | 64461882 | 64461882 | Missense_Mutation | C | T | p.R968C |
| JHUEM3_ENDOMETRIUM | 64461762 | 64461920 | 64461882 | 64461882 | Missense_Mutation | C | T | p.R968C |
| HS706T_BONE | 64473761 | 64473940 | 64473787 | 64473787 | Missense_Mutation | A | G | p.K1475R |
| CCK81_LARGE_INTESTINE | 64476684 | 64476834 | 64476692 | 64476692 | Missense_Mutation | A | G | p.Q1529R |
| HEC50B_ENDOMETRIUM | 64497734 | 64498075 | 64497842 | 64497842 | Missense_Mutation | G | T | p.D2330Y |
| NKL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64497734 | 64498075 | 64497847 | 64497847 | Missense_Mutation | T | A | p.D2331E |
| HCC2998_LARGE_INTESTINE | 64497734 | 64498075 | 64498045 | 64498045 | Missense_Mutation | A | C | p.E2397D |
| L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64514718 | 64514873 | 64514805 | 64514805 | Missense_Mutation | A | G | p.N2437D |
| NCIH2722_PLEURA | 64514718 | 64514873 | 64514806 | 64514806 | Missense_Mutation | A | G | p.N2437S |
| WM278_SKIN | 64542663 | 64542818 | 64542699 | 64542699 | Missense_Mutation | T | C | p.F3635L |
| HCC2998_LARGE_INTESTINE | 64542663 | 64542818 | 64542724 | 64542724 | Missense_Mutation | G | A | p.R3643Q |
| SNUC2A_LARGE_INTESTINE | 64542663 | 64542818 | 64542738 | 64542738 | Missense_Mutation | G | A | p.E3648K |
| SNUC2B_LARGE_INTESTINE | 64542663 | 64542818 | 64542738 | 64542738 | Missense_Mutation | G | A | p.E3648K |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64542663 | 64542818 | 64542771 | 64542771 | Missense_Mutation | T | A | p.S3659T |
| HSC4_UPPER_AERODIGESTIVE_TRACT | 64542663 | 64542818 | 64542790 | 64542790 | Missense_Mutation | G | A | p.R3665K |
| MDST8_LARGE_INTESTINE | 64568650 | 64568760 | 64568665 | 64568665 | Missense_Mutation | G | T | p.A4133S |
| RKN_SOFT_TISSUE | 64568650 | 64568760 | 64568735 | 64568735 | Missense_Mutation | C | G | p.S4156C |
| NCC021_KIDNEY | 64574209 | 64574325 | 64574255 | 64574255 | Missense_Mutation | T | G | p.I4180S |
| SNUC4_LARGE_INTESTINE | 64580059 | 64580289 | 64580120 | 64580120 | Missense_Mutation | A | T | p.E4224V |
| LS180_LARGE_INTESTINE | 64580059 | 64580289 | 64580266 | 64580266 | Missense_Mutation | G | A | p.E4273K |
| SW480_LARGE_INTESTINE | 64587645 | 64587779 | 64587655 | 64587655 | Missense_Mutation | T | C | p.I4345T |
| TE125T_FIBROBLAST | 64587645 | 64587779 | 64587657 | 64587657 | Missense_Mutation | C | G | p.L4346V |
| NCIH211_LUNG | 64587645 | 64587779 | 64587678 | 64587678 | Missense_Mutation | G | C | p.E4353Q |
| LNCAPCLONEFGC_PROSTATE | 64587645 | 64587779 | 64587766 | 64587766 | Missense_Mutation | T | A | p.F4382Y |
| GAK_SKIN | 64598983 | 64599156 | 64599112 | 64599112 | Missense_Mutation | G | A | p.E4824K |
| KYSE70_OESOPHAGUS | 64598983 | 64599156 | 64599131 | 64599131 | Missense_Mutation | G | C | p.G4830A |
| TGW_AUTONOMIC_GANGLIA | 64598983 | 64599156 | 64599146 | 64599146 | Missense_Mutation | G | A | p.S4835N |
| LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM | 64604505 | 64604701 | 64604535 | 64604535 | Missense_Mutation | G | A | p.A4893T |
| LNZ308_CENTRAL_NERVOUS_SYSTEM | 64604505 | 64604701 | 64604535 | 64604535 | Missense_Mutation | G | A | p.A4893T |
| MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64604505 | 64604701 | 64604671 | 64604671 | Missense_Mutation | G | A | p.R4938K |
| UMC11_LUNG | 64630120 | 64630299 | 64630171 | 64630171 | Missense_Mutation | A | G | p.S5451G |
| CW2_LARGE_INTESTINE | 64630120 | 64630299 | 64630210 | 64630210 | Missense_Mutation | A | G | p.T5464A |
| LU165_LUNG | 64630120 | 64630299 | 64630251 | 64630251 | Missense_Mutation | G | T | p.R5477S |
| MFE296_ENDOMETRIUM | 64630120 | 64630299 | 64630276 | 64630276 | Missense_Mutation | C | T | p.L5486F |
| JHU029_UPPER_AERODIGESTIVE_TRACT | 64653142 | 64653297 | 64653221 | 64653221 | Missense_Mutation | T | C | p.V5879A |
| CW2_LARGE_INTESTINE | 64656789 | 64656955 | 64656795 | 64656795 | Missense_Mutation | A | G | p.M5960V |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64656789 | 64656955 | 64656922 | 64656922 | Missense_Mutation | G | A | p.R6002H |
| SNU1_STOMACH | 64669556 | 64669681 | 64669584 | 64669584 | Missense_Mutation | G | A | p.R6035H |
| SNU1_STOMACH | 64669519 | 64669681 | 64669584 | 64669584 | Missense_Mutation | G | A | p.R6035H |
| OSC20_UPPER_AERODIGESTIVE_TRACT | 64678679 | 64678816 | 64678693 | 64678693 | Missense_Mutation | G | C | p.Q6246H |
| MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64682966 | 64683105 | 64683082 | 64683082 | Missense_Mutation | A | G | p.S6484G |
| J82_URINARY_TRACT | 64687155 | 64687355 | 64687235 | 64687235 | Missense_Mutation | G | C | p.E6624D |
| MRKNU1_BREAST | 64687155 | 64687355 | 64687235 | 64687235 | Missense_Mutation | G | C | p.E6624D |
| YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64687155 | 64687355 | 64687261 | 64687261 | Missense_Mutation | G | C | p.S6633T |
| HEC1A_ENDOMETRIUM | 64687155 | 64687355 | 64687270 | 64687270 | Missense_Mutation | G | A | p.R6636H |
| YAMATO_SOFT_TISSUE | 64687155 | 64687355 | 64687333 | 64687333 | Missense_Mutation | G | A | p.R6657Q |
| SCMCRM2_SOFT_TISSUE | 64687155 | 64687355 | 64687339 | 64687339 | Missense_Mutation | C | T | p.S6659L |
| OVCAR4_OVARY | 64688252 | 64688422 | 64688334 | 64688334 | Missense_Mutation | C | T | p.A6678V |
| OVCAR4_OVARY | 64688294 | 64688422 | 64688334 | 64688334 | Missense_Mutation | C | T | p.A6678V |
| NCIH835_LUNG | 64688252 | 64688422 | 64688344 | 64688344 | Missense_Mutation | G | C | p.K6681N |
| NCIH835_LUNG | 64688294 | 64688422 | 64688344 | 64688344 | Missense_Mutation | G | C | p.K6681N |
| SNU1040_LARGE_INTESTINE | 64688252 | 64688422 | 64688348 | 64688348 | Missense_Mutation | C | T | p.R6683W |
| SNU1040_LARGE_INTESTINE | 64688294 | 64688422 | 64688348 | 64688348 | Missense_Mutation | C | T | p.R6683W |
| NCIH2286_LUNG | 64688252 | 64688422 | 64688379 | 64688379 | Missense_Mutation | A | T | p.K6693M |
| NCIH2286_LUNG | 64688294 | 64688422 | 64688379 | 64688379 | Missense_Mutation | A | T | p.K6693M |
| SKMES1_LUNG | 64580059 | 64580289 | 64580146 | 64580146 | Nonsense_Mutation | G | T | p.E4233* |
| PK45H_PANCREAS | 64586145 | 64586327 | 64586325 | 64586325 | Nonsense_Mutation | C | T | p.Q4341* |
| ALLPO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64669556 | 64669681 | 64669553 | 64669553 | Nonsense_Mutation | C | T | p.Q6025* |
| ALLPO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64669519 | 64669681 | 64669553 | 64669553 | Nonsense_Mutation | C | T | p.Q6025* |
| LS411N_LARGE_INTESTINE | 64685116 | 64685230 | 64685164 | 64685164 | Nonsense_Mutation | C | T | p.R6508* |
| SKUT1_SOFT_TISSUE | 64457129 | 64457287 | 64457287 | 64457287 | Splice_Site | G | T | p.Q824H |
| SW48_LARGE_INTESTINE | 64598983 | 64599156 | 64598983 | 64598984 | Splice_Site | - | T | p.V4781fs |
| MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64630120 | 64630299 | 64630120 | 64630120 | Splice_Site | G | A | p.E5434K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SYNE2 |
| 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_107296 | 14 | 64600786:64600918:64604504:64604701:64606658:64606791 | 64604504:64604701 | ENST00000357395.3,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1 | LUSC | rs17766354 | chr14:64604592 | C/G | 2.37e-03 |
| exon_skip_107297 | 14 | 64604504:64604701:64606658:64606791:64608058:64608241 | 64606658:64606791 | ENST00000357395.3,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1 | KIRC | rs17825431 | chr14:64606654 | G/C | 2.18e-03 |
| exon_skip_107297 | 14 | 64604504:64604701:64606658:64606791:64608058:64608241 | 64606658:64606791 | ENST00000357395.3,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1 | LUAD | rs17825431 | chr14:64606654 | G/C | 8.15e-05 |
| exon_skip_107297 | 14 | 64604504:64604701:64606658:64606791:64608058:64608241 | 64606658:64606791 | ENST00000357395.3,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000554584.1,ENST00000555002.1 | PCPG | rs17825431 | chr14:64606654 | G/C | 9.52e-04 |
| exon_skip_107273 | 14 | 64496612:64496777:64497733:64498075:64514717:64514873 | 64497733:64498075 | ENST00000357395.3,ENST00000358025.3,ENST00000344113.4,ENST00000557005.1 | SARC | rs4027405 | chr14:64498037 | G/A | 1.26e-04 |
| exon_skip_107273 | 14 | 64496612:64496777:64497733:64498075:64514717:64514873 | 64497733:64498075 | ENST00000357395.3,ENST00000358025.3,ENST00000344113.4,ENST00000557005.1 | THCA | rs4027405 | chr14:64498037 | G/A | 2.34e-03 |
| exon_skip_107308 | 14 | 64655267:64655426:64656788:64656955:64669518:64669681 | 64656788:64656955 | ENST00000357395.3,ENST00000555612.1,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000555002.1 | CESC | rs2256191 | chr14:64656855 | T/C | 1.04e-03 |
| exon_skip_107308 | 14 | 64655267:64655426:64656788:64656955:64669518:64669681 | 64656788:64656955 | ENST00000357395.3,ENST00000555612.1,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000555002.1 | LGG | rs2256191 | chr14:64656855 | T/C | 1.12e-03 |
| exon_skip_107308 | 14 | 64655267:64655426:64656788:64656955:64669518:64669681 | 64656788:64656955 | ENST00000357395.3,ENST00000555612.1,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000555002.1 | KIRC | rs2256191 | chr14:64656855 | T/C | 7.75e-05 |
| exon_skip_107308 | 14 | 64655267:64655426:64656788:64656955:64669518:64669681 | 64656788:64656955 | ENST00000357395.3,ENST00000555612.1,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000555002.1 | LUSC | rs2256191 | chr14:64656855 | T/C | 3.00e-03 |
| exon_skip_107308 | 14 | 64655267:64655426:64656788:64656955:64669518:64669681 | 64656788:64656955 | ENST00000357395.3,ENST00000555612.1,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000555002.1 | LUSC | rs2256191 | chr14:64656855 | T/C | 3.07e-03 |
| exon_skip_107308 | 14 | 64655267:64655426:64656788:64656955:64669518:64669681 | 64656788:64656955 | ENST00000357395.3,ENST00000555612.1,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000555002.1 | OV | rs2256191 | chr14:64656855 | T/C | 2.03e-04 |
| exon_skip_107308 | 14 | 64655267:64655426:64656788:64656955:64669518:64669681 | 64656788:64656955 | ENST00000357395.3,ENST00000555612.1,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000555002.1 | PAAD | rs2256191 | chr14:64656855 | T/C | 7.63e-04 |
| exon_skip_107308 | 14 | 64655267:64655426:64656788:64656955:64669518:64669681 | 64656788:64656955 | ENST00000357395.3,ENST00000555612.1,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000555002.1 | PRAD | rs2256191 | chr14:64656855 | T/C | 2.05e-05 |
| exon_skip_107308 | 14 | 64655267:64655426:64656788:64656955:64669518:64669681 | 64656788:64656955 | ENST00000357395.3,ENST00000555612.1,ENST00000358025.3,ENST00000394768.2,ENST00000344113.4,ENST00000555002.1 | THCA | rs2256191 | chr14:64656855 | T/C | 1.10e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SYNE2 |
 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SYNE2 |
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RelatedDrugs for SYNE2 |
| 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 SYNE2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SYNE2 | C0004238 | Atrial Fibrillation | 1 | CTD_human |
| SYNE2 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| SYNE2 | C2751805 | EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT | 1 | UNIPROT |
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