ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NEB

Gene summary

Gene information	Gene symbol	NEB
	Gene ID	4703
	Gene name	nebulin
	Synonyms	NEB177D\|NEM2
	Cytomap	2q23.3
	Type of gene	protein-coding
	Description	nebulinnemaline myopathy type 2
	Modification date	20180523
	UniProtAcc	P20929
	Context	PubMed: NEB [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene

GO ID

GO term

PubMed ID

Top

Exon skipping events across known transcript of Ensembl for NEB from UCSC genome browser

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Top

Gene isoform structures and expression levels for NEB

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for NEB

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_343934	2	152346484:152346591:152346885:152347032:152348196:152348289	152346885:152347032	ENSG00000183091.15	ENST00000603639.1,ENST00000604864.1,ENST00000397345.3,ENST00000427231.2,ENST00000434685.1,ENST00000413693.1,ENST00000397337.2,ENST00000509223.2,ENST00000409198.1,ENST00000172853.10,ENST00000397336.2
exon_skip_343935	2	152348900:152349008:152349866:152349959:152350288:152350381	152349866:152349959	ENSG00000183091.15	ENST00000603639.1,ENST00000604864.1,ENST00000397345.3,ENST00000427231.2,ENST00000397337.2,ENST00000409198.1,ENST00000172853.10,ENST00000397336.2
exon_skip_343936	2	152348900:152349008:152349866:152349959:152350674:152350767	152349866:152349959	ENSG00000183091.15	ENST00000509223.2
exon_skip_343945	2	152348900:152349008:152350674:152350767:152352789:152352882	152350674:152350767	ENSG00000183091.15	ENST00000413693.1
exon_skip_343948	2	152348900:152349008:152350674:152350767:152361991:152362084	152350674:152350767	ENSG00000183091.15	ENST00000434685.1
exon_skip_343956	2	152349866:152349959:152350288:152350381:152350674:152350767	152350288:152350381	ENSG00000183091.15	ENST00000603639.1,ENST00000604864.1,ENST00000397345.3,ENST00000427231.2,ENST00000397337.2,ENST00000409198.1,ENST00000172853.10,ENST00000397336.2,ENST00000421461.2
exon_skip_343957	2	152350288:152350381:152350674:152350767:152352789:152352882	152350674:152350767	ENSG00000183091.15	ENST00000603639.1,ENST00000604864.1,ENST00000397345.3,ENST00000427231.2,ENST00000397337.2,ENST00000409198.1,ENST00000172853.10,ENST00000397336.2,ENST00000421461.2
exon_skip_343958	2	152350674:152350767:152352789:152352882:152353454:152353547	152352789:152352882	ENSG00000183091.15	ENST00000603639.1,ENST00000604864.1,ENST00000397345.3,ENST00000427231.2,ENST00000397337.2,ENST00000397336.2,ENST00000421461.2
exon_skip_343959	2	152350674:152350767:152352789:152352882:152359306:152359399	152352789:152352882	ENSG00000183091.15	ENST00000409198.1,ENST00000172853.10
exon_skip_343960	2	152350674:152350767:152352789:152352882:152359862:152359943	152352789:152352882	ENSG00000183091.15	ENST00000413693.1,ENST00000509223.2
exon_skip_343976	2	152352818:152352882:152353454:152353547:152359306:152359399	152353454:152353547	ENSG00000183091.15	ENST00000424585.1
exon_skip_343984	2	152352818:152352882:152359306:152359399:152359862:152359943	152359306:152359399	ENSG00000183091.15	ENST00000409198.1,ENST00000172853.10
exon_skip_343986	2	152352818:152352882:152359862:152359955:152361991:152362084	152359862:152359955	ENSG00000183091.15	ENST00000413693.1,ENST00000509223.2
exon_skip_344000	2	152354139:152354232:152354773:152354866:152355811:152355904	152354773:152354866	ENSG00000183091.15	ENST00000603639.1,ENST00000604864.1,ENST00000397345.3,ENST00000427231.2
exon_skip_344001	2	152354139:152354232:152354773:152354866:152357904:152357997	152354773:152354866	ENSG00000183091.15	ENST00000421461.2
exon_skip_344002	2	152354139:152354232:152354773:152354866:152359306:152359399	152354773:152354866	ENSG00000183091.15	ENST00000397337.2,ENST00000397336.2
exon_skip_344013	2	152354773:152354866:152355811:152355904:152357904:152357997	152355811:152355904	ENSG00000183091.15	ENST00000603639.1,ENST00000604864.1,ENST00000397345.3,ENST00000427231.2
exon_skip_344015	2	152354773:152354866:152357904:152357997:152359306:152359399	152357904:152357997	ENSG00000183091.15	ENST00000421461.2
exon_skip_344018	2	152355811:152355904:152357904:152357997:152359306:152359399	152357904:152357997	ENSG00000183091.15	ENST00000603639.1,ENST00000604864.1,ENST00000397345.3,ENST00000427231.2
exon_skip_344021	2	152357904:152357997:152359306:152359399:152359862:152359943	152359306:152359399	ENSG00000183091.15	ENST00000603639.1,ENST00000604864.1,ENST00000397345.3,ENST00000427231.2,ENST00000421461.2
exon_skip_344024	2	152359862:152359955:152361991:152362084:152362679:152362772	152361991:152362084	ENSG00000183091.15	ENST00000603639.1,ENST00000424585.1,ENST00000604864.1,ENST00000397345.3,ENST00000427231.2,ENST00000413693.1,ENST00000397337.2,ENST00000509223.2,ENST00000409198.1,ENST00000172853.10,ENST00000421461.2
exon_skip_344025	2	152362679:152362772:152363422:152363527:152364518:152364556	152363422:152363527	ENSG00000183091.15	ENST00000603639.1,ENST00000604864.1,ENST00000397345.3,ENST00000427231.2,ENST00000413693.1,ENST00000397337.2,ENST00000409198.1,ENST00000172853.10
exon_skip_344026	2	152363422:152363527:152364518:152364623:152369246:152369351	152364518:152364623	ENSG00000183091.15	ENST00000603639.1,ENST00000604864.1,ENST00000397345.3,ENST00000427231.2,ENST00000413693.1,ENST00000409198.1,ENST00000172853.10
exon_skip_344027	2	152370831:152370942:152371331:152371442:152372972:152373077	152371331:152371442	ENSG00000183091.15	ENST00000603639.1,ENST00000604864.1,ENST00000397345.3,ENST00000427231.2,ENST00000413693.1,ENST00000409198.1,ENST00000172853.10
exon_skip_344029	2	152382671:152382776:152383431:152383536:152383994:152384099	152383431:152383536	ENSG00000183091.15	ENST00000603639.1,ENST00000604864.1,ENST00000397345.3,ENST00000427231.2,ENST00000413693.1,ENST00000409198.1,ENST00000172853.10
exon_skip_344030	2	152388340:152388410:152389955:152390060:152392204:152392309	152389955:152390060	ENSG00000183091.15	ENST00000603639.1,ENST00000420924.1,ENST00000397345.3
exon_skip_344031	2	152388340:152388410:152390728:152390833:152392204:152392309	152390728:152390833	ENSG00000183091.15	ENST00000604864.1,ENST00000427231.2,ENST00000413693.1,ENST00000409198.1,ENST00000172853.10
exon_skip_344032	2	152551035:152551143:152552091:152552196:152553150:152553249	152552091:152552196	ENSG00000183091.15	ENST00000603639.1,ENST00000489048.1,ENST00000604864.1,ENST00000397345.3,ENST00000427231.2,ENST00000409198.1,ENST00000172853.10

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for NEB

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_343934	2	152346484:152346591:152346885:152347032:152348196:152348289	152346885:152347032	ENSG00000183091.15	ENST00000409198.1,ENST00000397337.2,ENST00000397345.3,ENST00000427231.2,ENST00000413693.1,ENST00000172853.10,ENST00000397336.2,ENST00000509223.2,ENST00000434685.1,ENST00000604864.1,ENST00000603639.1
exon_skip_343935	2	152348900:152349008:152349866:152349959:152350288:152350381	152349866:152349959	ENSG00000183091.15	ENST00000409198.1,ENST00000397337.2,ENST00000397345.3,ENST00000427231.2,ENST00000172853.10,ENST00000397336.2,ENST00000604864.1,ENST00000603639.1
exon_skip_343936	2	152348900:152349008:152349866:152349959:152350674:152350767	152349866:152349959	ENSG00000183091.15	ENST00000509223.2
exon_skip_343945	2	152348900:152349008:152350674:152350767:152352789:152352882	152350674:152350767	ENSG00000183091.15	ENST00000413693.1
exon_skip_343948	2	152348900:152349008:152350674:152350767:152361991:152362084	152350674:152350767	ENSG00000183091.15	ENST00000434685.1
exon_skip_343956	2	152349866:152349959:152350288:152350381:152350674:152350767	152350288:152350381	ENSG00000183091.15	ENST00000409198.1,ENST00000397337.2,ENST00000397345.3,ENST00000427231.2,ENST00000172853.10,ENST00000397336.2,ENST00000604864.1,ENST00000603639.1,ENST00000421461.2
exon_skip_343957	2	152350288:152350381:152350674:152350767:152352789:152352882	152350674:152350767	ENSG00000183091.15	ENST00000409198.1,ENST00000397337.2,ENST00000397345.3,ENST00000427231.2,ENST00000172853.10,ENST00000397336.2,ENST00000604864.1,ENST00000603639.1,ENST00000421461.2
exon_skip_343958	2	152350674:152350767:152352789:152352882:152353454:152353547	152352789:152352882	ENSG00000183091.15	ENST00000397337.2,ENST00000397345.3,ENST00000427231.2,ENST00000397336.2,ENST00000604864.1,ENST00000603639.1,ENST00000421461.2
exon_skip_343959	2	152350674:152350767:152352789:152352882:152359306:152359399	152352789:152352882	ENSG00000183091.15	ENST00000409198.1,ENST00000172853.10
exon_skip_343960	2	152350674:152350767:152352789:152352882:152359862:152359943	152352789:152352882	ENSG00000183091.15	ENST00000413693.1,ENST00000509223.2
exon_skip_343976	2	152352818:152352882:152353454:152353547:152359306:152359399	152353454:152353547	ENSG00000183091.15	ENST00000424585.1
exon_skip_343984	2	152352818:152352882:152359306:152359399:152359862:152359943	152359306:152359399	ENSG00000183091.15	ENST00000409198.1,ENST00000172853.10
exon_skip_343986	2	152352818:152352882:152359862:152359955:152361991:152362084	152359862:152359955	ENSG00000183091.15	ENST00000413693.1,ENST00000509223.2
exon_skip_344000	2	152354139:152354232:152354773:152354866:152355811:152355904	152354773:152354866	ENSG00000183091.15	ENST00000397345.3,ENST00000427231.2,ENST00000604864.1,ENST00000603639.1
exon_skip_344001	2	152354139:152354232:152354773:152354866:152357904:152357997	152354773:152354866	ENSG00000183091.15	ENST00000421461.2
exon_skip_344002	2	152354139:152354232:152354773:152354866:152359306:152359399	152354773:152354866	ENSG00000183091.15	ENST00000397337.2,ENST00000397336.2
exon_skip_344013	2	152354773:152354866:152355811:152355904:152357904:152357997	152355811:152355904	ENSG00000183091.15	ENST00000397345.3,ENST00000427231.2,ENST00000604864.1,ENST00000603639.1
exon_skip_344015	2	152354773:152354866:152357904:152357997:152359306:152359399	152357904:152357997	ENSG00000183091.15	ENST00000421461.2
exon_skip_344018	2	152355811:152355904:152357904:152357997:152359306:152359399	152357904:152357997	ENSG00000183091.15	ENST00000397345.3,ENST00000427231.2,ENST00000604864.1,ENST00000603639.1
exon_skip_344021	2	152357904:152357997:152359306:152359399:152359862:152359943	152359306:152359399	ENSG00000183091.15	ENST00000397345.3,ENST00000427231.2,ENST00000604864.1,ENST00000603639.1,ENST00000421461.2
exon_skip_344024	2	152359862:152359955:152361991:152362084:152362679:152362772	152361991:152362084	ENSG00000183091.15	ENST00000409198.1,ENST00000397337.2,ENST00000397345.3,ENST00000427231.2,ENST00000413693.1,ENST00000172853.10,ENST00000509223.2,ENST00000604864.1,ENST00000603639.1,ENST00000421461.2,ENST00000424585.1
exon_skip_344025	2	152362679:152362772:152363422:152363527:152364518:152364556	152363422:152363527	ENSG00000183091.15	ENST00000409198.1,ENST00000397337.2,ENST00000397345.3,ENST00000427231.2,ENST00000413693.1,ENST00000172853.10,ENST00000604864.1,ENST00000603639.1
exon_skip_344026	2	152363422:152363527:152364518:152364623:152369246:152369351	152364518:152364623	ENSG00000183091.15	ENST00000409198.1,ENST00000397345.3,ENST00000427231.2,ENST00000413693.1,ENST00000172853.10,ENST00000604864.1,ENST00000603639.1
exon_skip_344027	2	152370831:152370942:152371331:152371442:152372972:152373077	152371331:152371442	ENSG00000183091.15	ENST00000409198.1,ENST00000397345.3,ENST00000427231.2,ENST00000413693.1,ENST00000172853.10,ENST00000604864.1,ENST00000603639.1
exon_skip_344029	2	152382671:152382776:152383431:152383536:152383994:152384099	152383431:152383536	ENSG00000183091.15	ENST00000409198.1,ENST00000397345.3,ENST00000427231.2,ENST00000413693.1,ENST00000172853.10,ENST00000604864.1,ENST00000603639.1
exon_skip_344030	2	152388340:152388410:152389955:152390060:152392204:152392309	152389955:152390060	ENSG00000183091.15	ENST00000397345.3,ENST00000603639.1,ENST00000420924.1
exon_skip_344031	2	152388340:152388410:152390728:152390833:152392204:152392309	152390728:152390833	ENSG00000183091.15	ENST00000409198.1,ENST00000427231.2,ENST00000413693.1,ENST00000172853.10,ENST00000604864.1
exon_skip_344032	2	152551035:152551143:152552091:152552196:152553150:152553249	152552091:152552196	ENSG00000183091.15	ENST00000409198.1,ENST00000397345.3,ENST00000427231.2,ENST00000172853.10,ENST00000604864.1,ENST00000603639.1,ENST00000489048.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for NEB

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
ENST00000172853	152346885	152347032	In-frame
ENST00000172853	152349866	152349959	In-frame
ENST00000172853	152350288	152350381	In-frame
ENST00000172853	152350674	152350767	In-frame
ENST00000172853	152352789	152352882	In-frame
ENST00000172853	152359306	152359399	In-frame
ENST00000172853	152361991	152362084	In-frame
ENST00000172853	152363422	152363527	In-frame
ENST00000172853	152364518	152364623	In-frame
ENST00000172853	152371331	152371442	In-frame
ENST00000172853	152383431	152383536	In-frame
ENST00000172853	152390728	152390833	In-frame
ENST00000172853	152552091	152552196	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
ENST00000172853	152346885	152347032	In-frame
ENST00000172853	152349866	152349959	In-frame
ENST00000172853	152350288	152350381	In-frame
ENST00000172853	152350674	152350767	In-frame
ENST00000172853	152352789	152352882	In-frame
ENST00000172853	152359306	152359399	In-frame
ENST00000172853	152361991	152362084	In-frame
ENST00000172853	152363422	152363527	In-frame
ENST00000172853	152364518	152364623	In-frame
ENST00000172853	152371331	152371442	In-frame
ENST00000172853	152383431	152383536	In-frame
ENST00000172853	152390728	152390833	In-frame
ENST00000172853	152552091	152552196	In-frame

Top

Infer the effects of exon skipping event on protein functional features for NEB

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
ENST00000172853	20594	6669	152552091	152552196	1718	1822	523	558
ENST00000172853	20594	6669	152390728	152390833	16358	16462	5403	5438
ENST00000172853	20594	6669	152383431	152383536	16886	16990	5579	5614
ENST00000172853	20594	6669	152371331	152371442	17951	18061	5934	5971
ENST00000172853	20594	6669	152364518	152364623	18392	18496	6081	6116
ENST00000172853	20594	6669	152363422	152363527	18497	18601	6116	6151
ENST00000172853	20594	6669	152361991	152362084	18695	18787	6182	6213
ENST00000172853	20594	6669	152359306	152359399	18881	18973	6244	6275
ENST00000172853	20594	6669	152359306	152359399	18881	18973	6244	6275
ENST00000172853	20594	6669	152352789	152352882	18974	19066	6275	6306
ENST00000172853	20594	6669	152350674	152350767	19067	19159	6306	6337
ENST00000172853	20594	6669	152350288	152350381	19160	19252	6337	6368
ENST00000172853	20594	6669	152349866	152349959	19253	19345	6368	6399
ENST00000172853	20594	6669	152346885	152347032	19731	19877	6527	6576

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
ENST00000172853	20594	6669	152552091	152552196	1718	1822	523	558
ENST00000172853	20594	6669	152390728	152390833	16358	16462	5403	5438
ENST00000172853	20594	6669	152383431	152383536	16886	16990	5579	5614
ENST00000172853	20594	6669	152371331	152371442	17951	18061	5934	5971
ENST00000172853	20594	6669	152364518	152364623	18392	18496	6081	6116
ENST00000172853	20594	6669	152363422	152363527	18497	18601	6116	6151
ENST00000172853	20594	6669	152361991	152362084	18695	18787	6182	6213
ENST00000172853	20594	6669	152359306	152359399	18881	18973	6244	6275
ENST00000172853	20594	6669	152359306	152359399	18881	18973	6244	6275
ENST00000172853	20594	6669	152352789	152352882	18974	19066	6275	6306
ENST00000172853	20594	6669	152350674	152350767	19067	19159	6306	6337
ENST00000172853	20594	6669	152350288	152350381	19160	19252	6337	6368
ENST00000172853	20594	6669	152349866	152349959	19253	19345	6368	6399
ENST00000172853	20594	6669	152346885	152347032	19731	19877	6527	6576

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
P20929	523	558	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	523	558	502	532	Repeat	Note=Nebulin 12
P20929	523	558	537	567	Repeat	Note=Nebulin 13
P20929	5403	5438	5404	5436	Alternative sequence	ID=VSP_054447;Note=In isoform 2. KKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQI->RKYKSSAKMFLQHGCNEILRPDMLTALYNSHMW;Ontology_term=ECO:0000305;evidence=ECO:0000305
P20929	5403	5438	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	5403	5438	5382	5412	Repeat	Note=Nebulin 147
P20929	5403	5438	5417	5447	Repeat	Note=Nebulin 148
P20929	5403	5438	5432	5433	Sequence conflict	Note=AG->RS;Ontology_term=ECO:0000305;evidence=ECO:0000305
P20929	5579	5614	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	5579	5614	5558	5588	Repeat	Note=Nebulin 152
P20929	5579	5614	5593	5623	Repeat	Note=Nebulin 153
P20929	5934	5971	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	5934	5971	5934	5934	Natural variant	ID=VAR_021888;Note=G->E;Dbxref=dbSNP:rs3732309
P20929	5934	5971	5911	5943	Repeat	Note=Nebulin 162
P20929	5934	5971	5950	5980	Repeat	Note=Nebulin 163
P20929	6081	6116	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6081	6116	6060	6090	Repeat	Note=Nebulin 166
P20929	6081	6116	6095	6125	Repeat	Note=Nebulin 167
P20929	6116	6151	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6116	6151	6131	6131	Natural variant	ID=VAR_056953;Note=T->I;Dbxref=dbSNP:rs34368668
P20929	6116	6151	6095	6125	Repeat	Note=Nebulin 167
P20929	6116	6151	6130	6160	Repeat	Note=Nebulin 168
P20929	6182	6213	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6182	6213	6161	6191	Repeat	Note=Nebulin 169
P20929	6182	6213	6192	6222	Repeat	Note=Nebulin 170
P20929	6244	6275	6272	6273	Alternative sequence	ID=VSP_054448;Note=In isoform 2 and isoform 3. NF->NFSSILYKENLSKGTPLPVTPEMERVKLNQENFSSVLYKENVGKGIPIPITPEMERVKHNQENFSSVLYKENLGTGIPIPITPEMQRVKHNQENLSSVLYKENMGKGTPLPVTPEMERVKHNQENISSVLYKENMGKGTPLPVTPEMERVKHNQENI;Ontology_term=ECO:0000305;evidence=ECO:0000305
P20929	6244	6275	6272	6273	Alternative sequence	ID=VSP_054448;Note=In isoform 2 and isoform 3. NF->NFSSILYKENLSKGTPLPVTPEMERVKLNQENFSSVLYKENVGKGIPIPITPEMERVKHNQENFSSVLYKENLGTGIPIPITPEMQRVKHNQENLSSVLYKENMGKGTPLPVTPEMERVKHNQENISSVLYKENMGKGTPLPVTPEMERVKHNQENI;Ontology_term=ECO:0000305;evidence=ECO:0000305
P20929	6244	6275	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6244	6275	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6244	6275	6223	6253	Repeat	Note=Nebulin 171
P20929	6244	6275	6223	6253	Repeat	Note=Nebulin 171
P20929	6244	6275	6255	6284	Repeat	Note=Nebulin 172
P20929	6244	6275	6255	6284	Repeat	Note=Nebulin 172
P20929	6275	6306	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6275	6306	6255	6284	Repeat	Note=Nebulin 172
P20929	6275	6306	6285	6315	Repeat	Note=Nebulin 173
P20929	6275	6306	6289	6289	Sequence conflict	Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P20929	6306	6337	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6306	6337	6285	6315	Repeat	Note=Nebulin 173
P20929	6306	6337	6316	6346	Repeat	Note=Nebulin 174
P20929	6337	6368	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6337	6368	6316	6346	Repeat	Note=Nebulin 174
P20929	6337	6368	6347	6377	Repeat	Note=Nebulin 175
P20929	6368	6399	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6368	6399	6347	6377	Repeat	Note=Nebulin 175
P20929	6368	6399	6378	6408	Repeat	Note=Nebulin 176
P20929	6527	6576	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6527	6576	6546	6546	Natural variant	ID=VAR_056954;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7739042;Dbxref=dbSNP:rs1061305,PMID:7739042
P20929	6527	6576	6457	6612	Region	Note=Interaction with SVIL;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18639526;Dbxref=PMID:18639526

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
P20929	523	558	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	523	558	502	532	Repeat	Note=Nebulin 12
P20929	523	558	537	567	Repeat	Note=Nebulin 13
P20929	5403	5438	5404	5436	Alternative sequence	ID=VSP_054447;Note=In isoform 2. KKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQI->RKYKSSAKMFLQHGCNEILRPDMLTALYNSHMW;Ontology_term=ECO:0000305;evidence=ECO:0000305
P20929	5403	5438	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	5403	5438	5382	5412	Repeat	Note=Nebulin 147
P20929	5403	5438	5417	5447	Repeat	Note=Nebulin 148
P20929	5403	5438	5432	5433	Sequence conflict	Note=AG->RS;Ontology_term=ECO:0000305;evidence=ECO:0000305
P20929	5579	5614	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	5579	5614	5558	5588	Repeat	Note=Nebulin 152
P20929	5579	5614	5593	5623	Repeat	Note=Nebulin 153
P20929	5934	5971	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	5934	5971	5934	5934	Natural variant	ID=VAR_021888;Note=G->E;Dbxref=dbSNP:rs3732309
P20929	5934	5971	5911	5943	Repeat	Note=Nebulin 162
P20929	5934	5971	5950	5980	Repeat	Note=Nebulin 163
P20929	6081	6116	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6081	6116	6060	6090	Repeat	Note=Nebulin 166
P20929	6081	6116	6095	6125	Repeat	Note=Nebulin 167
P20929	6116	6151	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6116	6151	6131	6131	Natural variant	ID=VAR_056953;Note=T->I;Dbxref=dbSNP:rs34368668
P20929	6116	6151	6095	6125	Repeat	Note=Nebulin 167
P20929	6116	6151	6130	6160	Repeat	Note=Nebulin 168
P20929	6182	6213	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6182	6213	6161	6191	Repeat	Note=Nebulin 169
P20929	6182	6213	6192	6222	Repeat	Note=Nebulin 170
P20929	6244	6275	6272	6273	Alternative sequence	ID=VSP_054448;Note=In isoform 2 and isoform 3. NF->NFSSILYKENLSKGTPLPVTPEMERVKLNQENFSSVLYKENVGKGIPIPITPEMERVKHNQENFSSVLYKENLGTGIPIPITPEMQRVKHNQENLSSVLYKENMGKGTPLPVTPEMERVKHNQENISSVLYKENMGKGTPLPVTPEMERVKHNQENI;Ontology_term=ECO:0000305;evidence=ECO:0000305
P20929	6244	6275	6272	6273	Alternative sequence	ID=VSP_054448;Note=In isoform 2 and isoform 3. NF->NFSSILYKENLSKGTPLPVTPEMERVKLNQENFSSVLYKENVGKGIPIPITPEMERVKHNQENFSSVLYKENLGTGIPIPITPEMQRVKHNQENLSSVLYKENMGKGTPLPVTPEMERVKHNQENISSVLYKENMGKGTPLPVTPEMERVKHNQENI;Ontology_term=ECO:0000305;evidence=ECO:0000305
P20929	6244	6275	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6244	6275	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6244	6275	6223	6253	Repeat	Note=Nebulin 171
P20929	6244	6275	6223	6253	Repeat	Note=Nebulin 171
P20929	6244	6275	6255	6284	Repeat	Note=Nebulin 172
P20929	6244	6275	6255	6284	Repeat	Note=Nebulin 172
P20929	6275	6306	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6275	6306	6255	6284	Repeat	Note=Nebulin 172
P20929	6275	6306	6285	6315	Repeat	Note=Nebulin 173
P20929	6275	6306	6289	6289	Sequence conflict	Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P20929	6306	6337	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6306	6337	6285	6315	Repeat	Note=Nebulin 173
P20929	6306	6337	6316	6346	Repeat	Note=Nebulin 174
P20929	6337	6368	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6337	6368	6316	6346	Repeat	Note=Nebulin 174
P20929	6337	6368	6347	6377	Repeat	Note=Nebulin 175
P20929	6368	6399	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6368	6399	6347	6377	Repeat	Note=Nebulin 175
P20929	6368	6399	6378	6408	Repeat	Note=Nebulin 176
P20929	6527	6576	1	6669	Chain	ID=PRO_0000096775;Note=Nebulin
P20929	6527	6576	6546	6546	Natural variant	ID=VAR_056954;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7739042;Dbxref=dbSNP:rs1061305,PMID:7739042
P20929	6527	6576	6457	6612	Region	Note=Interaction with SVIL;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18639526;Dbxref=PMID:18639526

Top

SNVs in the skipped exons for NEB

- 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
LIHC	TCGA-DD-A1EG-01	exon_skip_343956	152350289	152350381	152350370	152350370	Frame_Shift_Del	T	-	p.K8197fs
LIHC	TCGA-DD-A1EG-01	exon_skip_343957 exon_skip_343948 exon_skip_343945	152350675	152350767	152350744	152350744	Frame_Shift_Del	C	-	p.G8170fs
LIHC	TCGA-DD-A39Y-01	exon_skip_343959 exon_skip_343958 exon_skip_343960	152352790	152352882	152352857	152352857	Frame_Shift_Del	T	-	p.K8140fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_343976	152353455	152353547	152353513	152353513	Frame_Shift_Del	G	-	p.P8112fs
LIHC	TCGA-DD-A39Y-01	exon_skip_343976	152353455	152353547	152353531	152353531	Frame_Shift_Del	T	-	p.N8106fs
LIHC	TCGA-DD-A1EG-01	exon_skip_344000 exon_skip_344001 exon_skip_344002	152354774	152354866	152354825	152354825	Frame_Shift_Del	G	-	p.P8052fs
LIHC	TCGA-DD-A39Y-01	exon_skip_344000 exon_skip_344001 exon_skip_344002	152354774	152354866	152354825	152354825	Frame_Shift_Del	G	-	p.P8052fs
KIRC	TCGA-DV-5573-01	exon_skip_344000 exon_skip_344001 exon_skip_344002	152354774	152354866	152354836	152354836	Frame_Shift_Del	T	-	p.I8084fs
LIHC	TCGA-DD-A3A0-01	exon_skip_344018 exon_skip_344015	152357905	152357997	152357924	152357924	Frame_Shift_Del	T	-	p.N8001fs
KIRP	TCGA-Y8-A8S0-01	exon_skip_343986	152359863	152359955	152359933	152359933	Frame_Shift_Del	C	-	p.G7957fs
KIRP	TCGA-Y8-A8S0-01	exon_skip_343986	152359863	152359955	152359933	152359934	Frame_Shift_Del	CC	-	p.7957_7957del
KIRC	TCGA-BP-4967-01	exon_skip_344024	152361992	152362084	152362014	152362014	Frame_Shift_Del	T	-	p.E7907fs
KIRC	TCGA-BP-4967-01	exon_skip_344024	152361992	152362084	152362014	152362014	Frame_Shift_Del	T	-	p.E7942fs
BRCA	TCGA-BH-A0GY-01	exon_skip_344024	152361992	152362084	152362016	152362017	Frame_Shift_Del	CT	-	p.K6205fs
STAD	TCGA-BR-4363-01	exon_skip_344025	152363423	152363527	152363488	152363488	Frame_Shift_Del	T	-	p.I6130fs
STAD	TCGA-BR-4363-01	exon_skip_344025	152363423	152363527	152363488	152363488	Frame_Shift_Del	T	-	p.I7866fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_344032	152552092	152552196	152552128	152552128	Frame_Shift_Del	A	-	p.F546fs
LUAD	TCGA-97-7547-01	exon_skip_344032	152552092	152552196	152552143	152552143	Frame_Shift_Del	A	-	p.P541fs
COAD	TCGA-G4-6309-01	exon_skip_344032	152552092	152552196	152552144	152552144	Frame_Shift_Del	G	-	p.P541fs
LIHC	TCGA-DD-A39Y-01	exon_skip_344032	152552092	152552196	152552144	152552144	Frame_Shift_Del	G	-	p.P541fs
LIHC	TCGA-DD-A39Y-01	exon_skip_344032	152552092	152552196	152552192	152552192	Frame_Shift_Del	T	-	p.N525fs
TGCT	TCGA-VF-A8A9-01	exon_skip_344026	152364519	152364623	152364618	152364619	Frame_Shift_Ins	-	T	p.I7784fs
LIHC	TCGA-BC-A112-01	exon_skip_344031	152390729	152390833	152390827	152390828	Frame_Shift_Ins	-	T	p.Q7107fs
STAD	TCGA-BR-8680-01	exon_skip_343959 exon_skip_343958 exon_skip_343960	152352790	152352882	152352870	152352870	Nonsense_Mutation	C	A	p.E6280*
STAD	TCGA-BR-8680-01	exon_skip_343959 exon_skip_343958 exon_skip_343960	152352790	152352882	152352870	152352870	Nonsense_Mutation	C	A	p.E8171X
UCEC	TCGA-AP-A056-01	exon_skip_343959 exon_skip_343958 exon_skip_343960	152352790	152352882	152352870	152352870	Nonsense_Mutation	C	A	p.E6280*
UCEC	TCGA-AX-A0J0-01	exon_skip_344021 exon_skip_343984	152359307	152359399	152359319	152359319	Nonsense_Mutation	C	A	p.E149*
THYM	TCGA-ZB-A964-01	exon_skip_344025	152363423	152363527	152363424	152363424	Nonsense_Mutation	G	T	p.S7887X
UCEC	TCGA-D1-A103-01	exon_skip_344000 exon_skip_344001 exon_skip_344002	152354774	152354866	152354867	152354867	Splice_Site	C	A	e24-1
UCEC	TCGA-B5-A11E-01	exon_skip_344018 exon_skip_344015	152357905	152357997	152357903	152357903	Splice_Site	A	G	e23+2
UCEC	TCGA-AX-A05Y-01	exon_skip_343986	152359863	152359955	152359956	152359956	Splice_Site	C	A	e137-1
UCEC	TCGA-AX-A05Y-01	exon_skip_343986	152359863	152359955	152359956	152359956	Splice_Site	C	A	p.V6214_splice

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-BC-A112-01
	Cancer type: LIHC
	ESID: exon_skip_344031
	Skipped exon start: 152390729
	Skipped exon end: 152390833
	Mutation start: 152390827
	Mutation end: 152390828
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.Q7107fs
exon_skip_114200_LIHC_TCGA-BC-A112-01.png
exon_skip_131894_LIHC_TCGA-BC-A112-01.png
exon_skip_135820_LIHC_TCGA-BC-A112-01.png
exon_skip_138911_LIHC_TCGA-BC-A112-01.png
exon_skip_141587_LIHC_TCGA-BC-A112-01.png
exon_skip_142606_LIHC_TCGA-BC-A112-01.png
exon_skip_146695_LIHC_TCGA-BC-A112-01.png
exon_skip_146697_LIHC_TCGA-BC-A112-01.png
exon_skip_152962_LIHC_TCGA-BC-A112-01.png
exon_skip_155765_LIHC_TCGA-BC-A112-01.png
exon_skip_1757_LIHC_TCGA-BC-A112-01.png
exon_skip_1879_LIHC_TCGA-BC-A112-01.png
exon_skip_1881_LIHC_TCGA-BC-A112-01.png
exon_skip_266_LIHC_TCGA-BC-A112-01.png
exon_skip_284527_LIHC_TCGA-BC-A112-01.png
exon_skip_286998_LIHC_TCGA-BC-A112-01.png
exon_skip_293546_LIHC_TCGA-BC-A112-01.png
exon_skip_293549_LIHC_TCGA-BC-A112-01.png
exon_skip_306900_LIHC_TCGA-BC-A112-01.png
exon_skip_311841_LIHC_TCGA-BC-A112-01.png
exon_skip_325884_LIHC_TCGA-BC-A112-01.png
exon_skip_326432_LIHC_TCGA-BC-A112-01.png
exon_skip_32825_LIHC_TCGA-BC-A112-01.png
exon_skip_331787_LIHC_TCGA-BC-A112-01.png
exon_skip_337208_LIHC_TCGA-BC-A112-01.png
exon_skip_337747_LIHC_TCGA-BC-A112-01.png
exon_skip_339045_LIHC_TCGA-BC-A112-01.png
exon_skip_344031_LIHC_TCGA-BC-A112-01.png
exon_skip_35548_LIHC_TCGA-BC-A112-01.png
exon_skip_35556_LIHC_TCGA-BC-A112-01.png
exon_skip_359720_LIHC_TCGA-BC-A112-01.png
exon_skip_37056_LIHC_TCGA-BC-A112-01.png
exon_skip_37483_LIHC_TCGA-BC-A112-01.png
exon_skip_37491_LIHC_TCGA-BC-A112-01.png
exon_skip_375724_LIHC_TCGA-BC-A112-01.png
exon_skip_378789_LIHC_TCGA-BC-A112-01.png
exon_skip_386291_LIHC_TCGA-BC-A112-01.png
exon_skip_41850_LIHC_TCGA-BC-A112-01.png
exon_skip_435931_LIHC_TCGA-BC-A112-01.png
exon_skip_436296_LIHC_TCGA-BC-A112-01.png
exon_skip_438393_LIHC_TCGA-BC-A112-01.png
exon_skip_443977_LIHC_TCGA-BC-A112-01.png
exon_skip_444190_LIHC_TCGA-BC-A112-01.png
exon_skip_44538_LIHC_TCGA-BC-A112-01.png
exon_skip_449944_LIHC_TCGA-BC-A112-01.png
exon_skip_458520_LIHC_TCGA-BC-A112-01.png
exon_skip_460075_LIHC_TCGA-BC-A112-01.png
exon_skip_472635_LIHC_TCGA-BC-A112-01.png
exon_skip_489149_LIHC_TCGA-BC-A112-01.png
exon_skip_492152_LIHC_TCGA-BC-A112-01.png
exon_skip_49506_LIHC_TCGA-BC-A112-01.png
exon_skip_5044_LIHC_TCGA-BC-A112-01.png
exon_skip_512559_LIHC_TCGA-BC-A112-01.png
exon_skip_514460_LIHC_TCGA-BC-A112-01.png
exon_skip_514990_LIHC_TCGA-BC-A112-01.png
exon_skip_55171_LIHC_TCGA-BC-A112-01.png
exon_skip_55175_LIHC_TCGA-BC-A112-01.png
exon_skip_56847_LIHC_TCGA-BC-A112-01.png
exon_skip_57586_LIHC_TCGA-BC-A112-01.png
exon_skip_57892_LIHC_TCGA-BC-A112-01.png
exon_skip_58035_LIHC_TCGA-BC-A112-01.png
exon_skip_6399_LIHC_TCGA-BC-A112-01.png
exon_skip_77132_LIHC_TCGA-BC-A112-01.png

- 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
TGBC11TKB_STOMACH	152350289	152350381	152350346	152350346	Frame_Shift_Del	G	-	p.P6349fs
CHSA0011_BONE	152359863	152359955	152359894	152359895	Frame_Shift_Ins	-	T	p.R6234fs
SW48_LARGE_INTESTINE	152383432	152383536	152383525	152383526	Frame_Shift_Ins	-	T	p.K5583fs
EBC1_LUNG	152346886	152347032	152346922	152346922	Missense_Mutation	T	G	p.T6565P
TGBC11TKB_STOMACH	152346886	152347032	152346999	152346999	Missense_Mutation	C	T	p.R6539Q
UMUC6_URINARY_TRACT	152350289	152350381	152350306	152350306	Missense_Mutation	G	C	p.Q6363E
BFTC909_KIDNEY	152350289	152350381	152350337	152350337	Missense_Mutation	A	C	p.F6352L
SNU449_LIVER	152350289	152350381	152350341	152350341	Missense_Mutation	G	C	p.P6351R
LS180_LARGE_INTESTINE	152350675	152350767	152350697	152350697	Missense_Mutation	C	T	p.R6330H
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	152350675	152350767	152350698	152350698	Missense_Mutation	G	A	p.R6330C
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	152350675	152350767	152350734	152350734	Missense_Mutation	C	G	p.A6318P
RKO_LARGE_INTESTINE	152350675	152350767	152350739	152350739	Missense_Mutation	G	A	p.A6316V
HCC70_BREAST	152359307	152359399	152359316	152359316	Missense_Mutation	G	T	p.N6272K
IGROV1_OVARY	152359307	152359399	152359329	152359329	Missense_Mutation	C	T	p.R6268H
ESS1_ENDOMETRIUM	152359307	152359399	152359385	152359385	Missense_Mutation	T	G	p.E6249D
CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	152359863	152359955	152359878	152359878	Missense_Mutation	T	G	p.Q6239H
CW2_LARGE_INTESTINE	152361992	152362084	152361999	152361999	Missense_Mutation	A	G	p.I6211T
PATU8988T_PANCREAS	152363423	152363527	152363460	152363460	Missense_Mutation	A	G	p.I6139T
BT474_BREAST	152371332	152371442	152371336	152371336	Missense_Mutation	C	T	p.S5970N
KMH2_THYROID	152383432	152383536	152383440	152383440	Missense_Mutation	C	G	p.E5612Q
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	152383432	152383536	152383461	152383461	Missense_Mutation	C	T	p.A5605T
JHUEM7_ENDOMETRIUM	152390729	152390833	152390769	152390769	Missense_Mutation	C	A	p.R5425I
HEC6_ENDOMETRIUM	152359307	152359399	152359372	152359372	Nonsense_Mutation	C	A	p.G6254*
HCC2998_LARGE_INTESTINE	152359863	152359955	152359943	152359943	Nonsense_Mutation	C	A	p.E6218*
HCC2998_LARGE_INTESTINE	152552092	152552196	152552175	152552175	Nonsense_Mutation	C	A	p.E531*
MDAMB231_BREAST	152349867	152349959	152349959	152349959	Splice_Site	C	T	p.V6369I
NCIH1703_LUNG	152350675	152350767	152350676	152350676	Splice_Site	G	C	p.S6337W
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	152352790	152352882	152352791	152352791	Splice_Site	G	A	p.S6306L
HEC108_ENDOMETRIUM	152352790	152352882	152352881	152352881	Splice_Site	A	G	p.V6276A
KOSC2_UPPER_AERODIGESTIVE_TRACT	152359863	152359955	152359863	152359863	Splice_Site	C	T	p.S6244S
WM1799_SKIN	152363423	152363527	152363424	152363424	Splice_Site	G	A	p.S6151L

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NEB

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

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NEB

Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NEB

Top

RelatedDrugs for NEB

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

RelatedDiseases for NEB

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

Home

Download

Statistics

Landscape

Help

Contact

Gene summary for NEB

Exon skipping events across known transcript of Ensembl for NEB from UCSC genome browser

Gene isoform structures and expression levels for NEB

Exon skipping events with PSIs in TCGA for NEB

Exon skipping events with PSIs in GTEx for NEB

Open reading frame (ORF) annotation in the exon skipping event for NEB

Infer the effects of exon skipping event on protein functional features for NEB

SNVs in the skipped exons for NEB

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NEB

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NEB

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NEB

RelatedDrugs for NEB

RelatedDiseases for NEB