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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 SYNE1 |
 Gene summary |
| Gene information | Gene symbol | SYNE1 | Gene ID | 23345 |
| Gene name | spectrin repeat containing nuclear envelope protein 1 | |
| Synonyms | 8B|ARCA1|C6orf98|CPG2|EDMD4|KASH1|MYNE1|Nesp1|SCAR8|dJ45H2.2 | |
| Cytomap | 6q25.2 | |
| Type of gene | protein-coding | |
| Description | nesprin-1CPG2 full lengthKASH domain-containing protein 1enaptinmyocyte nuclear envelope protein 1nesprin 1spectrin repeat containing, nuclear envelope 1synaptic nuclear envelope protein 1synaptic nuclei expressed gene 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8NF91 | |
| Context | PubMed: SYNE1 [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 |
| SYNE1 | GO:0007030 | Golgi organization | 12808039 |
| SYNE1 | GO:0042692 | muscle cell differentiation | 11792814 |
| SYNE1 | GO:0090286 | cytoskeletal anchoring at nuclear membrane | 18396275 |
| SYNE1 | GO:0090292 | nuclear matrix anchoring at nuclear membrane | 11801724 |
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Exon skipping events across known transcript of Ensembl for SYNE1 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 SYNE1 |
| 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 SYNE1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_462972 | 6 | 152443739:152443811:152451854:152451913:152453256:152453349 | 152451854:152451913 | ENSG00000131018.18 | ENST00000341594.5,ENST00000356820.4,ENST00000367255.5,ENST00000367256.5,ENST00000265368.4,ENST00000478916.1,ENST00000539504.1,ENST00000354674.4,ENST00000460912.2,ENST00000448038.1,ENST00000347037.5,ENST00000409694.2,ENST00000423061.1 |
| exon_skip_462974 | 6 | 152461084:152461296:152462337:152462464:152464757:152464900 | 152462337:152462464 | ENSG00000131018.18 | ENST00000341594.5,ENST00000356820.4,ENST00000367251.3,ENST00000367255.5,ENST00000367256.5,ENST00000367257.4,ENST00000265368.4,ENST00000478916.1,ENST00000539504.1,ENST00000354674.4,ENST00000536990.1,ENST00000460912.2,ENST00000448038.1,ENST00000347037.5,ENS |
| exon_skip_462976 | 6 | 152464757:152464900:152466621:152466690:152469179:152469513 | 152466621:152466690 | ENSG00000131018.18 | ENST00000367251.3,ENST00000354674.4,ENST00000460912.2,ENST00000448038.1,ENST00000347037.5,ENST00000423061.1 |
| exon_skip_462980 | 6 | 152497528:152497695:152501270:152501429:152510386:152510542 | 152501270:152501429 | ENSG00000131018.18 | ENST00000341594.5,ENST00000356820.4,ENST00000367251.3,ENST00000367255.5,ENST00000367256.5,ENST00000367257.4,ENST00000265368.4,ENST00000448038.1,ENST00000409694.2,ENST00000423061.1 |
| exon_skip_462981 | 6 | 152501270:152501429:152510386:152510542:152522958:152523084 | 152510386:152510542 | ENSG00000131018.18 | ENST00000341594.5,ENST00000356820.4,ENST00000367251.3,ENST00000367255.5,ENST00000367256.5,ENST00000367257.4,ENST00000265368.4,ENST00000448038.1,ENST00000409694.2,ENST00000423061.1 |
| exon_skip_462982 | 6 | 152534746:152534894:152536040:152536195:152539391:152539520 | 152536040:152536195 | ENSG00000131018.18 | ENST00000341594.5,ENST00000356820.4,ENST00000367251.3,ENST00000367255.5,ENST00000367256.5,ENST00000367257.4,ENST00000265368.4,ENST00000448038.1,ENST00000409694.2,ENST00000423061.1 |
| exon_skip_462983 | 6 | 152545628:152545799:152546855:152547011:152551681:152551837 | 152546855:152547011 | ENSG00000131018.18 | ENST00000341594.5,ENST00000356820.4,ENST00000367255.5,ENST00000367256.5,ENST00000265368.4,ENST00000448038.1,ENST00000409694.2,ENST00000423061.1 |
| exon_skip_462985 | 6 | 152557951:152558083:152560667:152560841:152563374:152563575 | 152560667:152560841 | ENSG00000131018.18 | ENST00000341594.5,ENST00000356820.4,ENST00000367255.5,ENST00000367256.5,ENST00000265368.4,ENST00000448038.1,ENST00000409694.2,ENST00000423061.1 |
| exon_skip_462987 | 6 | 152563374:152563575:152565671:152565791:152570295:152570397 | 152565671:152565791 | ENSG00000131018.18 | ENST00000341594.5,ENST00000356820.4,ENST00000367255.5,ENST00000367256.5,ENST00000265368.4,ENST00000448038.1,ENST00000409694.2,ENST00000423061.1 |
| exon_skip_462988 | 6 | 152565671:152565791:152570295:152570397:152576014:152576224 | 152570295:152570397 | ENSG00000131018.18 | ENST00000341594.5,ENST00000356820.4,ENST00000367255.5,ENST00000367256.5,ENST00000265368.4,ENST00000448038.1,ENST00000409694.2,ENST00000423061.1 |
| exon_skip_462989 | 6 | 152602941:152603115:152605112:152605307:152614722:152614884 | 152605112:152605307 | ENSG00000131018.18 | ENST00000341594.5,ENST00000356820.4,ENST00000367255.5,ENST00000367256.5,ENST00000265368.4,ENST00000448038.1,ENST00000409694.2,ENST00000423061.1 |
| exon_skip_462990 | 6 | 152602941:152603115:152605112:152605319:152614722:152614884 | 152605112:152605319 | ENSG00000131018.18 | ENST00000489156.1 |
| exon_skip_462991 | 6 | 152615094:152615262:152621775:152621916:152623003:152623198 | 152621775:152621916 | ENSG00000131018.18 | ENST00000341594.5,ENST00000356820.4,ENST00000367255.5,ENST00000367256.5,ENST00000537033.1,ENST00000265368.4,ENST00000448038.1,ENST00000409694.2,ENST00000423061.1 |
| exon_skip_462992 | 6 | 152637983:152638121:152639215:152639398:152639997:152640150 | 152639215:152639398 | ENSG00000131018.18 | ENST00000367255.5,ENST00000490135.2,ENST00000265368.4,ENST00000448038.1,ENST00000423061.1 |
| exon_skip_462993 | 6 | 152665215:152665362:152668193:152668370:152671302:152671470 | 152668193:152668370 | ENSG00000131018.18 | ENST00000367255.5,ENST00000265368.4,ENST00000471834.1 |
| exon_skip_462995 | 6 | 152671752:152671905:152673161:152673488:152674397:152674568 | 152673161:152673488 | ENSG00000131018.18 | ENST00000367255.5,ENST00000265368.4,ENST00000448038.1,ENST00000471834.1,ENST00000423061.1 |
| exon_skip_462997 | 6 | 152679507:152679672:152680449:152680593:152683304:152683349 | 152680449:152680593 | ENSG00000131018.18 | ENST00000367255.5,ENST00000265368.4,ENST00000448038.1,ENST00000471834.1,ENST00000423061.1 |
| exon_skip_462998 | 6 | 152688352:152688517:152690106:152690262:152690605:152690749 | 152690106:152690262 | ENSG00000131018.18 | ENST00000341594.5,ENST00000367255.5,ENST00000265368.4,ENST00000454018.2,ENST00000448038.1,ENST00000423061.1 |
| exon_skip_462999 | 6 | 152776560:152776725:152777020:152777179:152779891:152780065 | 152777020:152777179 | ENSG00000131018.18 | ENST00000495090.2,ENST00000367255.5,ENST00000413186.2,ENST00000461872.2,ENST00000367248.3,ENST00000265368.4,ENST00000367253.4,ENST00000474655.2,ENST00000448038.1,ENST00000423061.1 |
| exon_skip_463003 | 6 | 152809530:152809638:152819876:152819927:152823767:152823877 | 152819876:152819927 | ENSG00000131018.18 | ENST00000341594.5,ENST00000466159.2,ENST00000367255.5,ENST00000413186.2,ENST00000265368.4,ENST00000367253.4,ENST00000448038.1,ENST00000423061.1 |
| exon_skip_463004 | 6 | 152832145:152832238:152832705:152832726:152841593:152841677 | 152832705:152832726 | ENSG00000131018.18 | ENST00000367248.3,ENST00000448038.1,ENST00000423061.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SYNE1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_462972 | 6 | 152443739:152443811:152451854:152451913:152453256:152453349 | 152451854:152451913 | ENSG00000131018.18 | ENST00000367255.5,ENST00000478916.1,ENST00000539504.1,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1,ENST00000341594.5,ENST00000356820.4,ENST00000460912.2,ENST00000347037.5,ENST00000409694.2,ENST00000367256.5,ENST00000354674.4 |
| exon_skip_462974 | 6 | 152461084:152461296:152462337:152462464:152464757:152464900 | 152462337:152462464 | ENSG00000131018.18 | ENST00000367255.5,ENST00000478916.1,ENST00000539504.1,ENST00000367257.4,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1,ENST00000341594.5,ENST00000356820.4,ENST00000367251.3,ENST00000460912.2,ENST00000347037.5,ENST00000409694.2,ENST00000367256.5,ENS |
| exon_skip_462976 | 6 | 152464757:152464900:152466621:152466690:152469179:152469513 | 152466621:152466690 | ENSG00000131018.18 | ENST00000423061.1,ENST00000448038.1,ENST00000367251.3,ENST00000460912.2,ENST00000347037.5,ENST00000354674.4 |
| exon_skip_462980 | 6 | 152497528:152497695:152501270:152501429:152510386:152510542 | 152501270:152501429 | ENSG00000131018.18 | ENST00000367255.5,ENST00000367257.4,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1,ENST00000341594.5,ENST00000356820.4,ENST00000367251.3,ENST00000409694.2,ENST00000367256.5 |
| exon_skip_462981 | 6 | 152501270:152501429:152510386:152510542:152522958:152523084 | 152510386:152510542 | ENSG00000131018.18 | ENST00000367255.5,ENST00000367257.4,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1,ENST00000341594.5,ENST00000356820.4,ENST00000367251.3,ENST00000409694.2,ENST00000367256.5 |
| exon_skip_462982 | 6 | 152534746:152534894:152536040:152536195:152539391:152539520 | 152536040:152536195 | ENSG00000131018.18 | ENST00000367255.5,ENST00000367257.4,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1,ENST00000341594.5,ENST00000356820.4,ENST00000367251.3,ENST00000409694.2,ENST00000367256.5 |
| exon_skip_462983 | 6 | 152545628:152545799:152546855:152547011:152551681:152551837 | 152546855:152547011 | ENSG00000131018.18 | ENST00000367255.5,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1,ENST00000341594.5,ENST00000356820.4,ENST00000409694.2,ENST00000367256.5 |
| exon_skip_462985 | 6 | 152557951:152558083:152560667:152560841:152563374:152563575 | 152560667:152560841 | ENSG00000131018.18 | ENST00000367255.5,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1,ENST00000341594.5,ENST00000356820.4,ENST00000409694.2,ENST00000367256.5 |
| exon_skip_462987 | 6 | 152563374:152563575:152565671:152565791:152570295:152570397 | 152565671:152565791 | ENSG00000131018.18 | ENST00000367255.5,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1,ENST00000341594.5,ENST00000356820.4,ENST00000409694.2,ENST00000367256.5 |
| exon_skip_462988 | 6 | 152565671:152565791:152570295:152570397:152576014:152576224 | 152570295:152570397 | ENSG00000131018.18 | ENST00000367255.5,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1,ENST00000341594.5,ENST00000356820.4,ENST00000409694.2,ENST00000367256.5 |
| exon_skip_462989 | 6 | 152602941:152603115:152605112:152605307:152614722:152614884 | 152605112:152605307 | ENSG00000131018.18 | ENST00000367255.5,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1,ENST00000341594.5,ENST00000356820.4,ENST00000409694.2,ENST00000367256.5 |
| exon_skip_462990 | 6 | 152602941:152603115:152605112:152605319:152614722:152614884 | 152605112:152605319 | ENSG00000131018.18 | ENST00000489156.1 |
| exon_skip_462991 | 6 | 152615094:152615262:152621775:152621916:152623003:152623198 | 152621775:152621916 | ENSG00000131018.18 | ENST00000367255.5,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1,ENST00000341594.5,ENST00000356820.4,ENST00000409694.2,ENST00000367256.5,ENST00000537033.1 |
| exon_skip_462992 | 6 | 152637983:152638121:152639215:152639398:152639997:152640150 | 152639215:152639398 | ENSG00000131018.18 | ENST00000367255.5,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1,ENST00000490135.2 |
| exon_skip_462994 | 6 | 152668193:152668370:152671302:152671470:152671752:152671905 | 152671302:152671470 | ENSG00000131018.18 | ENST00000367255.5,ENST00000265368.4,ENST00000471834.1 |
| exon_skip_462995 | 6 | 152671752:152671905:152673161:152673488:152674397:152674568 | 152673161:152673488 | ENSG00000131018.18 | ENST00000367255.5,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1,ENST00000471834.1 |
| exon_skip_462997 | 6 | 152679507:152679672:152680449:152680593:152683304:152683349 | 152680449:152680593 | ENSG00000131018.18 | ENST00000367255.5,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1,ENST00000471834.1 |
| exon_skip_462998 | 6 | 152688352:152688517:152690106:152690262:152690605:152690749 | 152690106:152690262 | ENSG00000131018.18 | ENST00000367255.5,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1,ENST00000341594.5,ENST00000454018.2 |
| exon_skip_462999 | 6 | 152776560:152776725:152777020:152777179:152779891:152780065 | 152777020:152777179 | ENSG00000131018.18 | ENST00000367255.5,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1,ENST00000461872.2,ENST00000367253.4,ENST00000367248.3,ENST00000413186.2,ENST00000495090.2,ENST00000474655.2 |
| exon_skip_463003 | 6 | 152809530:152809638:152819876:152819927:152823767:152823877 | 152819876:152819927 | ENSG00000131018.18 | ENST00000367255.5,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1,ENST00000341594.5,ENST00000367253.4,ENST00000413186.2,ENST00000466159.2 |
| exon_skip_463004 | 6 | 152832145:152832238:152832705:152832726:152841593:152841677 | 152832705:152832726 | ENSG00000131018.18 | ENST00000423061.1,ENST00000448038.1,ENST00000367248.3 |
| exon_skip_463005 | 6 | 152949399:152949689:152957772:152957940:152958323:152958534 | 152957772:152957940 | ENSG00000131018.18 | ENST00000265368.4,ENST00000448038.1,ENST00000341594.5,ENST00000537750.1 |
| 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 SYNE1 |
| 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 |
| ENST00000367255 | 152451854 | 152451913 | Frame-shift |
| ENST00000367255 | 152462337 | 152462464 | Frame-shift |
| ENST00000367255 | 152536040 | 152536195 | Frame-shift |
| ENST00000367255 | 152501270 | 152501429 | In-frame |
| ENST00000367255 | 152510386 | 152510542 | In-frame |
| ENST00000367255 | 152546855 | 152547011 | In-frame |
| ENST00000367255 | 152560667 | 152560841 | In-frame |
| ENST00000367255 | 152565671 | 152565791 | In-frame |
| ENST00000367255 | 152570295 | 152570397 | In-frame |
| ENST00000367255 | 152605112 | 152605307 | In-frame |
| ENST00000367255 | 152621775 | 152621916 | In-frame |
| ENST00000367255 | 152639215 | 152639398 | In-frame |
| ENST00000367255 | 152668193 | 152668370 | In-frame |
| ENST00000367255 | 152673161 | 152673488 | In-frame |
| ENST00000367255 | 152680449 | 152680593 | In-frame |
| ENST00000367255 | 152690106 | 152690262 | In-frame |
| ENST00000367255 | 152777020 | 152777179 | In-frame |
| ENST00000367255 | 152819876 | 152819927 | 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 |
| ENST00000367255 | 152451854 | 152451913 | Frame-shift |
| ENST00000367255 | 152462337 | 152462464 | Frame-shift |
| ENST00000367255 | 152536040 | 152536195 | Frame-shift |
| ENST00000367255 | 152501270 | 152501429 | In-frame |
| ENST00000367255 | 152510386 | 152510542 | In-frame |
| ENST00000367255 | 152546855 | 152547011 | In-frame |
| ENST00000367255 | 152560667 | 152560841 | In-frame |
| ENST00000367255 | 152565671 | 152565791 | In-frame |
| ENST00000367255 | 152570295 | 152570397 | In-frame |
| ENST00000367255 | 152605112 | 152605307 | In-frame |
| ENST00000367255 | 152621775 | 152621916 | In-frame |
| ENST00000367255 | 152639215 | 152639398 | In-frame |
| ENST00000367255 | 152671302 | 152671470 | In-frame |
| ENST00000367255 | 152673161 | 152673488 | In-frame |
| ENST00000367255 | 152680449 | 152680593 | In-frame |
| ENST00000367255 | 152690106 | 152690262 | In-frame |
| ENST00000367255 | 152777020 | 152777179 | In-frame |
| ENST00000367255 | 152819876 | 152819927 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SYNE1 |
| 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 |
| ENST00000367255 | 27765 | 8797 | 152819876 | 152819927 | 1491 | 1541 | 296 | 313 |
| ENST00000367255 | 27765 | 8797 | 152777020 | 152777179 | 3171 | 3329 | 856 | 909 |
| ENST00000367255 | 27765 | 8797 | 152690106 | 152690262 | 10254 | 10409 | 3217 | 3269 |
| ENST00000367255 | 27765 | 8797 | 152680449 | 152680593 | 10902 | 11045 | 3433 | 3481 |
| ENST00000367255 | 27765 | 8797 | 152673161 | 152673488 | 11856 | 12182 | 3751 | 3860 |
| ENST00000367255 | 27765 | 8797 | 152668193 | 152668370 | 12504 | 12680 | 3967 | 4026 |
| ENST00000367255 | 27765 | 8797 | 152639215 | 152639398 | 16992 | 17174 | 5463 | 5524 |
| ENST00000367255 | 27765 | 8797 | 152621775 | 152621916 | 18144 | 18284 | 5847 | 5894 |
| ENST00000367255 | 27765 | 8797 | 152605112 | 152605307 | 18615 | 18809 | 6004 | 6069 |
| ENST00000367255 | 27765 | 8797 | 152570295 | 152570397 | 20073 | 20174 | 6490 | 6524 |
| ENST00000367255 | 27765 | 8797 | 152565671 | 152565791 | 20175 | 20294 | 6524 | 6564 |
| ENST00000367255 | 27765 | 8797 | 152560667 | 152560841 | 20496 | 20669 | 6631 | 6689 |
| ENST00000367255 | 27765 | 8797 | 152546855 | 152547011 | 21798 | 21953 | 7065 | 7117 |
| ENST00000367255 | 27765 | 8797 | 152510386 | 152510542 | 23748 | 23903 | 7715 | 7767 |
| ENST00000367255 | 27765 | 8797 | 152501270 | 152501429 | 23904 | 24062 | 7767 | 7820 |
| 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 |
| ENST00000367255 | 27765 | 8797 | 152819876 | 152819927 | 1491 | 1541 | 296 | 313 |
| ENST00000367255 | 27765 | 8797 | 152777020 | 152777179 | 3171 | 3329 | 856 | 909 |
| ENST00000367255 | 27765 | 8797 | 152690106 | 152690262 | 10254 | 10409 | 3217 | 3269 |
| ENST00000367255 | 27765 | 8797 | 152680449 | 152680593 | 10902 | 11045 | 3433 | 3481 |
| ENST00000367255 | 27765 | 8797 | 152673161 | 152673488 | 11856 | 12182 | 3751 | 3860 |
| ENST00000367255 | 27765 | 8797 | 152671302 | 152671470 | 12336 | 12503 | 3911 | 3967 |
| ENST00000367255 | 27765 | 8797 | 152639215 | 152639398 | 16992 | 17174 | 5463 | 5524 |
| ENST00000367255 | 27765 | 8797 | 152621775 | 152621916 | 18144 | 18284 | 5847 | 5894 |
| ENST00000367255 | 27765 | 8797 | 152605112 | 152605307 | 18615 | 18809 | 6004 | 6069 |
| ENST00000367255 | 27765 | 8797 | 152570295 | 152570397 | 20073 | 20174 | 6490 | 6524 |
| ENST00000367255 | 27765 | 8797 | 152565671 | 152565791 | 20175 | 20294 | 6524 | 6564 |
| ENST00000367255 | 27765 | 8797 | 152560667 | 152560841 | 20496 | 20669 | 6631 | 6689 |
| ENST00000367255 | 27765 | 8797 | 152546855 | 152547011 | 21798 | 21953 | 7065 | 7117 |
| ENST00000367255 | 27765 | 8797 | 152510386 | 152510542 | 23748 | 23903 | 7715 | 7767 |
| ENST00000367255 | 27765 | 8797 | 152501270 | 152501429 | 23904 | 24062 | 7767 | 7820 |
| 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 SYNE1 |
| - 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-A39Y-01 | exon_skip_462974 | 152462338 | 152462464 | 152462398 | 152462398 | Frame_Shift_Del | C | - | p.E8399fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_462982 | 152536041 | 152536195 | 152536102 | 152536102 | Frame_Shift_Del | T | - | p.R7429fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_462982 | 152536041 | 152536195 | 152536108 | 152536108 | Frame_Shift_Del | T | - | p.I7427fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_462982 | 152536041 | 152536195 | 152536119 | 152536119 | Frame_Shift_Del | T | - | p.N7423fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_462985 | 152560668 | 152560841 | 152560757 | 152560757 | Frame_Shift_Del | T | - | p.T6660fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_462987 | 152565672 | 152565791 | 152565686 | 152565686 | Frame_Shift_Del | G | - | p.L6560fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_462987 | 152565672 | 152565791 | 152565756 | 152565756 | Frame_Shift_Del | A | - | p.F6536fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_462993 | 152668194 | 152668370 | 152668269 | 152668269 | Frame_Shift_Del | T | - | p.K4001fs |
| STAD | TCGA-BR-4361-01 | exon_skip_462995 | 152673162 | 152673488 | 152673183 | 152673183 | Frame_Shift_Del | T | - | p.A3854fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_462995 | 152673162 | 152673488 | 152673379 | 152673379 | Frame_Shift_Del | T | - | p.K3788fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_463003 | 152819877 | 152819927 | 152819880 | 152819880 | Frame_Shift_Del | A | - | p.F312fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_463003 | 152819877 | 152819927 | 152819884 | 152819884 | Frame_Shift_Del | T | - | p.N311fs |
| UCEC | TCGA-A5-A0R6-01 | exon_skip_462981 | 152510387 | 152510542 | 152510496 | 152510496 | Nonsense_Mutation | A | T | p.L7731* |
| LIHC | TCGA-ED-A5KG-01 | exon_skip_462982 | 152536041 | 152536195 | 152536122 | 152536122 | Nonsense_Mutation | A | T | p.L7422X |
| UCEC | TCGA-BS-A0TC-01 | exon_skip_462987 | 152565672 | 152565791 | 152565761 | 152565761 | Nonsense_Mutation | C | A | p.E6535* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_462989 | 152605113 | 152605307 | 152605163 | 152605163 | Nonsense_Mutation | G | A | p.R6053* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_462990 | 152605113 | 152605319 | 152605163 | 152605163 | Nonsense_Mutation | G | A | p.R6053* |
| STAD | TCGA-HU-A4H3-01 | exon_skip_462991 | 152621776 | 152621916 | 152621778 | 152621778 | Nonsense_Mutation | G | A | p.Q5894* |
| STAD | TCGA-HU-A4H3-01 | exon_skip_462991 | 152621776 | 152621916 | 152621778 | 152621778 | Nonsense_Mutation | G | A | p.Q5894X |
| HNSC | TCGA-CR-6491-01 | exon_skip_462992 | 152639216 | 152639398 | 152639352 | 152639352 | Nonsense_Mutation | A | T | p.L5479* |
| LUAD | TCGA-17-Z057-01 | exon_skip_462995 | 152673162 | 152673488 | 152673179 | 152673179 | Nonsense_Mutation | G | A | p.Q3855* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_462997 | 152680450 | 152680593 | 152680545 | 152680545 | Nonsense_Mutation | C | A | p.E3450* |
| BLCA | TCGA-DK-AA6W-01 | exon_skip_462998 | 152690107 | 152690262 | 152690229 | 152690229 | Nonsense_Mutation | G | A | p.Q3229* |
| BLCA | TCGA-DK-AA75-01 | exon_skip_462998 | 152690107 | 152690262 | 152690229 | 152690229 | Nonsense_Mutation | G | A | p.Q3229* |
| UCEC | TCGA-AP-A051-01 | exon_skip_463004 | 152832706 | 152832726 | 152832714 | 152832714 | Nonsense_Mutation | C | A | p.G108* |
| UCEC | TCGA-AP-A05N-01 | exon_skip_462983 | 152546856 | 152547011 | 152546854 | 152546854 | Splice_Site | A | G | e114+2 |
| UCEC | TCGA-AP-A05N-01 | exon_skip_462983 | 152546856 | 152547011 | 152546854 | 152546854 | Splice_Site | A | G | p.M7117_splice |
| BRCA | TCGA-EW-A1IW-01 | exon_skip_462988 | 152570296 | 152570397 | 152570399 | 152570399 | Splice_Site | T | C | e103-2 |
| LUSC | TCGA-18-3417-01 | exon_skip_462993 | 152668194 | 152668370 | 152668193 | 152668193 | Splice_Site | C | A | p.R4026_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 |
| KM12_LARGE_INTESTINE | 152673162 | 152673488 | 152673183 | 152673183 | Frame_Shift_Del | T | - | p.K3853fs |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152673162 | 152673488 | 152673182 | 152673183 | Frame_Shift_Ins | - | T | p.A3854fs |
| HS274T_BREAST | 152673162 | 152673488 | 152673182 | 152673183 | Frame_Shift_Ins | - | T | p.A3854fs |
| HS729_SOFT_TISSUE | 152673162 | 152673488 | 152673182 | 152673183 | Frame_Shift_Ins | - | T | p.A3854fs |
| IGR1_SKIN | 152673162 | 152673488 | 152673182 | 152673183 | Frame_Shift_Ins | - | T | p.A3854fs |
| JHOM1_OVARY | 152673162 | 152673488 | 152673182 | 152673183 | Frame_Shift_Ins | - | T | p.A3854fs |
| RCC10RGB_KIDNEY | 152673162 | 152673488 | 152673182 | 152673183 | Frame_Shift_Ins | - | T | p.A3854fs |
| SKNSH_AUTONOMIC_GANGLIA | 152673162 | 152673488 | 152673182 | 152673183 | Frame_Shift_Ins | - | T | p.A3854fs |
| TIG3TD_FIBROBLAST | 152673162 | 152673488 | 152673182 | 152673183 | Frame_Shift_Ins | - | T | p.A3854fs |
| TTC549_SOFT_TISSUE | 152673162 | 152673488 | 152673182 | 152673183 | Frame_Shift_Ins | - | T | p.A3854fs |
| IM95_STOMACH | 152673162 | 152673488 | 152673378 | 152673379 | Frame_Shift_Ins | - | T | p.K3788fs |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152462338 | 152462464 | 152462385 | 152462385 | Missense_Mutation | C | A | p.S8400I |
| EMCBAC2_LUNG | 152462338 | 152462464 | 152462425 | 152462425 | Missense_Mutation | C | T | p.V8387M |
| MEWO_SKIN | 152462338 | 152462464 | 152462449 | 152462449 | Missense_Mutation | C | T | p.E8379K |
| KYSE30_OESOPHAGUS | 152462338 | 152462464 | 152462462 | 152462462 | Missense_Mutation | C | T | p.M8374I |
| ETK1_BILIARY_TRACT | 152501271 | 152501429 | 152501306 | 152501306 | Missense_Mutation | T | C | p.I7809V |
| NCIH1573_LUNG | 152501271 | 152501429 | 152501394 | 152501394 | Missense_Mutation | C | A | p.L7779F |
| HCC2998_LARGE_INTESTINE | 152501271 | 152501429 | 152501417 | 152501417 | Missense_Mutation | G | A | p.R7772W |
| NCIH1876_LUNG | 152510387 | 152510542 | 152510428 | 152510428 | Missense_Mutation | C | A | p.V7754L |
| MERO82_LUNG | 152510387 | 152510542 | 152510493 | 152510493 | Missense_Mutation | C | A | p.S7732I |
| JHUEM7_ENDOMETRIUM | 152536041 | 152536195 | 152536101 | 152536101 | Missense_Mutation | C | A | p.R7429I |
| COV504_OVARY | 152536041 | 152536195 | 152536140 | 152536140 | Missense_Mutation | A | G | p.L7416P |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152536041 | 152536195 | 152536153 | 152536153 | Missense_Mutation | G | A | p.R7412C |
| C80_LARGE_INTESTINE | 152546856 | 152547011 | 152547002 | 152547002 | Missense_Mutation | C | A | p.D7069Y |
| RKO_LARGE_INTESTINE | 152560668 | 152560841 | 152560762 | 152560762 | Missense_Mutation | T | C | p.K6658R |
| HEC50B_ENDOMETRIUM | 152560668 | 152560841 | 152560777 | 152560777 | Missense_Mutation | C | A | p.S6653I |
| EFM19_BREAST | 152565672 | 152565791 | 152565700 | 152565700 | Missense_Mutation | G | A | p.P6555L |
| SISO_CERVIX | 152565672 | 152565791 | 152565728 | 152565728 | Missense_Mutation | G | A | p.R6546C |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152565672 | 152565791 | 152565728 | 152565728 | Missense_Mutation | G | A | p.R6546C |
| HT115_LARGE_INTESTINE | 152565672 | 152565791 | 152565761 | 152565761 | Missense_Mutation | C | T | p.E6535K |
| RERFLCAD2_LUNG | 152565672 | 152565791 | 152565769 | 152565769 | Missense_Mutation | C | A | p.G6532V |
| NCO2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152570296 | 152570397 | 152570385 | 152570385 | Missense_Mutation | C | T | p.V6495M |
| MS1_SKIN | 152570296 | 152570397 | 152570385 | 152570385 | Missense_Mutation | C | T | p.V6495M |
| MS1_LUNG | 152570296 | 152570397 | 152570385 | 152570385 | Missense_Mutation | C | T | p.V6495M |
| SNU1040_LARGE_INTESTINE | 152605113 | 152605319 | 152605247 | 152605247 | Missense_Mutation | C | T | p.A6025T |
| SNU1040_LARGE_INTESTINE | 152605113 | 152605307 | 152605247 | 152605247 | Missense_Mutation | C | T | p.A6025T |
| SW684_SOFT_TISSUE | 152621776 | 152621916 | 152621832 | 152621832 | Missense_Mutation | G | A | p.P5876S |
| HCT15_LARGE_INTESTINE | 152621776 | 152621916 | 152621882 | 152621882 | Missense_Mutation | G | A | p.P5859L |
| T3M4_PANCREAS | 152639216 | 152639398 | 152639220 | 152639220 | Missense_Mutation | T | C | p.N5523S |
| TE9_OESOPHAGUS | 152639216 | 152639398 | 152639220 | 152639220 | Missense_Mutation | T | C | p.N5523S |
| DM3_FIBROBLAST | 152639216 | 152639398 | 152639220 | 152639220 | Missense_Mutation | T | C | p.N5523S |
| OV7_OVARY | 152639216 | 152639398 | 152639235 | 152639235 | Missense_Mutation | C | A | p.R5518L |
| TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152639216 | 152639398 | 152639292 | 152639292 | Missense_Mutation | T | G | p.K5499T |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152639216 | 152639398 | 152639319 | 152639319 | Missense_Mutation | T | C | p.N5490S |
| T84_LARGE_INTESTINE | 152639216 | 152639398 | 152639324 | 152639324 | Missense_Mutation | T | A | p.E5488D |
| SNU324_PANCREAS | 152639216 | 152639398 | 152639344 | 152639344 | Missense_Mutation | C | T | p.A5482T |
| KNS62_LUNG | 152639216 | 152639398 | 152639380 | 152639380 | Missense_Mutation | C | A | p.D5470Y |
| CW2_LARGE_INTESTINE | 152673162 | 152673488 | 152673316 | 152673316 | Missense_Mutation | A | G | p.M3809T |
| ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152673162 | 152673488 | 152673328 | 152673328 | Missense_Mutation | C | T | p.R3805Q |
| LN428_CENTRAL_NERVOUS_SYSTEM | 152673162 | 152673488 | 152673347 | 152673347 | Missense_Mutation | C | T | p.E3799K |
| HCC1500_BREAST | 152673162 | 152673488 | 152673433 | 152673433 | Missense_Mutation | T | C | p.K3770R |
| ECGI10_OESOPHAGUS | 152690107 | 152690262 | 152690150 | 152690150 | Missense_Mutation | G | C | p.S3255W |
| KMBC2_URINARY_TRACT | 152777021 | 152777179 | 152777141 | 152777141 | Missense_Mutation | C | G | p.L869F |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152777021 | 152777179 | 152777152 | 152777152 | Missense_Mutation | T | C | p.K866E |
| COGAR359_SOFT_TISSUE | 152819877 | 152819927 | 152819884 | 152819884 | Missense_Mutation | T | A | p.N311I |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 152819877 | 152819927 | 152819924 | 152819924 | Missense_Mutation | T | C | p.I298V |
| SNU81_LARGE_INTESTINE | 152565672 | 152565791 | 152565761 | 152565761 | Nonsense_Mutation | C | A | p.E6535* |
| HT115_LARGE_INTESTINE | 152673162 | 152673488 | 152673212 | 152673212 | Nonsense_Mutation | C | A | p.E3844* |
| HCT15_LARGE_INTESTINE | 152673162 | 152673488 | 152673308 | 152673308 | Nonsense_Mutation | C | A | p.E3812* |
| HEC265_ENDOMETRIUM | 152570296 | 152570397 | 152570397 | 152570397 | Splice_Site | T | C | p.N6491D |
| NCIH2087_LUNG | 152819877 | 152819927 | 152819927 | 152819927 | Splice_Site | C | G | p.E297Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SYNE1 |
| 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 SYNE1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SYNE1 |
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RelatedDrugs for SYNE1 |
| 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 SYNE1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SYNE1 | C0005586 | Bipolar Disorder | 3 | PSYGENET |
| SYNE1 | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
| SYNE1 | C0154409 | Recurrent major depressive episodes | 1 | PSYGENET |
| SYNE1 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| SYNE1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| SYNE1 | C2751807 | Emery-Dreifuss Muscular Dystrophy 4 | 1 | UNIPROT |
| SYNE1 | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |
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