ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SNED1

Gene summary

Gene information	Gene symbol	SNED1
	Gene ID	25992
	Gene name	sushi, nidogen and EGF like domains 1
	Synonyms	IRE-BP1\|SST3\|Snep
	Cytomap	2q37.3
	Type of gene	protein-coding
	Description	sushi, nidogen and EGF-like domain-containing protein 1insulin responsive sequence DNA binding protein-1
	Modification date	20180403
	UniProtAcc	Q8TER0
	Context	PubMed: SNED1 [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

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Exon skipping events across known transcript of Ensembl for SNED1 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 SNED1

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for SNED1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_335720	2	241938254:241938467:241969700:241969988:241973151:241973292	241969700:241969988	ENSG00000162804.9	ENST00000342631.6,ENST00000310397.8,ENST00000405547.3
exon_skip_335722	2	241976752:241976770:241979491:241979605:241979716:241979798	241979491:241979605	ENSG00000162804.9	ENST00000342631.6,ENST00000401884.1,ENST00000310397.8,ENST00000405547.3,ENST00000401644.2,ENST00000493358.1,ENST00000431690.1
exon_skip_335729	2	241979532:241979605:241979716:241979830:241987731:241987857	241979716:241979830	ENSG00000162804.9	ENST00000342631.6,ENST00000401884.1,ENST00000310397.8,ENST00000405547.3,ENST00000401644.2,ENST00000431690.1
exon_skip_335742	2	241989233:241989350:241991160:241991277:241991457:241991574	241991160:241991277	ENSG00000162804.9	ENST00000342631.6,ENST00000401884.1,ENST00000310397.8,ENST00000405547.3
exon_skip_335749	2	241992569:241992743:242002207:242002321:242003003:242003117	242002207:242002321	ENSG00000162804.9	ENST00000342631.6,ENST00000401884.1,ENST00000310397.8,ENST00000405547.3
exon_skip_335750	2	242003428:242003542:242004259:242004373:242004714:242005011	242004259:242004373	ENSG00000162804.9	ENST00000342631.6,ENST00000401884.1,ENST00000310397.8,ENST00000405547.3,ENST00000466618.1
exon_skip_335751	2	242009455:242009616:242010990:242011135:242011210:242011293	242010990:242011135	ENSG00000162804.9	ENST00000342631.6,ENST00000401884.1,ENST00000310397.8,ENST00000405547.3,ENST00000466618.1
exon_skip_335758	2	242011210:242011293:242012680:242012779:242021091:242021208	242012680:242012779	ENSG00000162804.9	ENST00000310397.8
exon_skip_335763	2	242021091:242021208:242021691:242021779:242026806:242026890	242021691:242021779	ENSG00000162804.9	ENST00000342631.6,ENST00000310397.8,ENST00000466618.1
exon_skip_335766	2	242021691:242021779:242026806:242026890:242027779:242027817	242026806:242026890	ENSG00000162804.9	ENST00000342631.6,ENST00000310397.8,ENST00000466618.1
exon_skip_335770	2	242021691:242021779:242027779:242027817:242031052:242031268	242027779:242027817	ENSG00000162804.9	ENST00000405547.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for SNED1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_335720	2	241938254:241938467:241969700:241969988:241973151:241973292	241969700:241969988	ENSG00000162804.9	ENST00000405547.3,ENST00000310397.8,ENST00000342631.6
exon_skip_335722	2	241976752:241976770:241979491:241979605:241979716:241979798	241979491:241979605	ENSG00000162804.9	ENST00000401884.1,ENST00000405547.3,ENST00000310397.8,ENST00000342631.6,ENST00000493358.1,ENST00000401644.2,ENST00000431690.1
exon_skip_335729	2	241979532:241979605:241979716:241979830:241987731:241987857	241979716:241979830	ENSG00000162804.9	ENST00000401884.1,ENST00000405547.3,ENST00000310397.8,ENST00000342631.6,ENST00000401644.2,ENST00000431690.1
exon_skip_335742	2	241989233:241989350:241991160:241991277:241991457:241991574	241991160:241991277	ENSG00000162804.9	ENST00000401884.1,ENST00000405547.3,ENST00000310397.8,ENST00000342631.6
exon_skip_335749	2	241992569:241992743:242002207:242002321:242003003:242003117	242002207:242002321	ENSG00000162804.9	ENST00000401884.1,ENST00000405547.3,ENST00000310397.8,ENST00000342631.6
exon_skip_335750	2	242003428:242003542:242004259:242004373:242004714:242005011	242004259:242004373	ENSG00000162804.9	ENST00000401884.1,ENST00000405547.3,ENST00000310397.8,ENST00000342631.6,ENST00000466618.1
exon_skip_335751	2	242009455:242009616:242010990:242011135:242011210:242011293	242010990:242011135	ENSG00000162804.9	ENST00000401884.1,ENST00000405547.3,ENST00000310397.8,ENST00000342631.6,ENST00000466618.1
exon_skip_335758	2	242011210:242011293:242012680:242012779:242021091:242021208	242012680:242012779	ENSG00000162804.9	ENST00000310397.8
exon_skip_335763	2	242021091:242021208:242021691:242021779:242026806:242026890	242021691:242021779	ENSG00000162804.9	ENST00000310397.8,ENST00000342631.6,ENST00000466618.1
exon_skip_335766	2	242021691:242021779:242026806:242026890:242027779:242027817	242026806:242026890	ENSG00000162804.9	ENST00000310397.8,ENST00000342631.6,ENST00000466618.1
exon_skip_335770	2	242021691:242021779:242027779:242027817:242031052:242031268	242027779:242027817	ENSG00000162804.9	ENST00000405547.3

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for SNED1

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
ENST00000310397	242010990	242011135	Frame-shift
ENST00000310397	242021691	242021779	Frame-shift
ENST00000310397	241969700	241969988	In-frame
ENST00000310397	241979491	241979605	In-frame
ENST00000310397	241979716	241979830	In-frame
ENST00000310397	241991160	241991277	In-frame
ENST00000310397	242002207	242002321	In-frame
ENST00000310397	242004259	242004373	In-frame
ENST00000310397	242012680	242012779	In-frame
ENST00000310397	242026806	242026890	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
ENST00000310397	242010990	242011135	Frame-shift
ENST00000310397	242021691	242021779	Frame-shift
ENST00000310397	241969700	241969988	In-frame
ENST00000310397	241979491	241979605	In-frame
ENST00000310397	241979716	241979830	In-frame
ENST00000310397	241991160	241991277	In-frame
ENST00000310397	242002207	242002321	In-frame
ENST00000310397	242004259	242004373	In-frame
ENST00000310397	242012680	242012779	In-frame
ENST00000310397	242026806	242026890	In-frame

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Infer the effects of exon skipping event on protein functional features for SNED1

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
ENST00000310397	8191	1413	241969700	241969988	214	501	71	167
ENST00000310397	8191	1413	241979491	241979605	1046	1159	348	386
ENST00000310397	8191	1413	241979716	241979830	1160	1273	386	424
ENST00000310397	8191	1413	241991160	241991277	1736	1852	578	617
ENST00000310397	8191	1413	242002207	242002321	2258	2371	752	790
ENST00000310397	8191	1413	242004259	242004373	2600	2713	866	904
ENST00000310397	8191	1413	242012680	242012779	3818	3916	1272	1305
ENST00000310397	8191	1413	242026806	242026890	4122	4205	1374	1401

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
ENST00000310397	8191	1413	241969700	241969988	214	501	71	167
ENST00000310397	8191	1413	241979491	241979605	1046	1159	348	386
ENST00000310397	8191	1413	241979716	241979830	1160	1273	386	424
ENST00000310397	8191	1413	241991160	241991277	1736	1852	578	617
ENST00000310397	8191	1413	242002207	242002321	2258	2371	752	790
ENST00000310397	8191	1413	242004259	242004373	2600	2713	866	904
ENST00000310397	8191	1413	242012680	242012779	3818	3916	1272	1305
ENST00000310397	8191	1413	242026806	242026890	4122	4205	1374	1401

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
Q8TER0	71	167	25	1413	Chain	ID=PRO_0000299554;Note=Sushi%2C nidogen and EGF-like domain-containing protein 1
Q8TER0	71	167	103	258	Domain	Note=NIDO;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00570
Q8TER0	71	167	145	145	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TER0	348	386	25	1413	Chain	ID=PRO_0000299554;Note=Sushi%2C nidogen and EGF-like domain-containing protein 1
Q8TER0	348	386	353	364	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	348	386	358	373	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	348	386	375	384	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	348	386	349	385	Domain	Note=EGF-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q8TER0	348	386	352	374	Domain	Note=Follistatin-like 1
Q8TER0	386	424	25	1413	Chain	ID=PRO_0000299554;Note=Sushi%2C nidogen and EGF-like domain-containing protein 1
Q8TER0	386	424	391	402	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	386	424	396	411	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	386	424	413	422	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	386	424	387	423	Domain	Note=EGF-like 4%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q8TER0	386	424	408	408	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TER0	578	617	25	1413	Chain	ID=PRO_0000299554;Note=Sushi%2C nidogen and EGF-like domain-containing protein 1
Q8TER0	578	617	584	595	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	578	617	589	604	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	578	617	606	615	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	578	617	580	616	Domain	Note=EGF-like 8;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q8TER0	752	790	25	1413	Chain	ID=PRO_0000299554;Note=Sushi%2C nidogen and EGF-like domain-containing protein 1
Q8TER0	752	790	757	768	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	752	790	762	777	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	752	790	779	788	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	752	790	696	753	Domain	Note=Sushi;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
Q8TER0	752	790	753	789	Domain	Note=EGF-like 11%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q8TER0	866	904	25	1413	Chain	ID=PRO_0000299554;Note=Sushi%2C nidogen and EGF-like domain-containing protein 1
Q8TER0	866	904	871	882	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	866	904	876	891	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	866	904	893	902	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	866	904	867	903	Domain	Note=EGF-like 14;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q8TER0	1272	1305	1273	1306	Alternative sequence	ID=VSP_027749;Note=In isoform 2 and isoform 3. QPTASAQLENMEEAPKRVSLALQLPEHGSKDIGN->H;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.2;Dbxref=PMID:15489334
Q8TER0	1272	1305	25	1413	Chain	ID=PRO_0000299554;Note=Sushi%2C nidogen and EGF-like domain-containing protein 1
Q8TER0	1272	1305	1289	1289	Natural variant	ID=VAR_034848;Note=R->Q;Dbxref=dbSNP:rs6721345
Q8TER0	1272	1305	1299	1299	Natural variant	ID=VAR_034849;Note=H->R;Dbxref=dbSNP:rs6708120
Q8TER0	1374	1401	1325	1413	Alternative sequence	ID=VSP_027751;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15194686;Dbxref=PMID:15194686
Q8TER0	1374	1401	1375	1402	Alternative sequence	ID=VSP_027752;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q8TER0	1374	1401	1398	1398	Alternative sequence	ID=VSP_027753;Note=In isoform 3. K->L;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8TER0	1374	1401	1399	1413	Alternative sequence	ID=VSP_027754;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8TER0	1374	1401	25	1413	Chain	ID=PRO_0000299554;Note=Sushi%2C nidogen and EGF-like domain-containing protein 1

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
Q8TER0	71	167	25	1413	Chain	ID=PRO_0000299554;Note=Sushi%2C nidogen and EGF-like domain-containing protein 1
Q8TER0	71	167	103	258	Domain	Note=NIDO;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00570
Q8TER0	71	167	145	145	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TER0	348	386	25	1413	Chain	ID=PRO_0000299554;Note=Sushi%2C nidogen and EGF-like domain-containing protein 1
Q8TER0	348	386	353	364	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	348	386	358	373	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	348	386	375	384	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	348	386	349	385	Domain	Note=EGF-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q8TER0	348	386	352	374	Domain	Note=Follistatin-like 1
Q8TER0	386	424	25	1413	Chain	ID=PRO_0000299554;Note=Sushi%2C nidogen and EGF-like domain-containing protein 1
Q8TER0	386	424	391	402	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	386	424	396	411	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	386	424	413	422	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	386	424	387	423	Domain	Note=EGF-like 4%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q8TER0	386	424	408	408	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8TER0	578	617	25	1413	Chain	ID=PRO_0000299554;Note=Sushi%2C nidogen and EGF-like domain-containing protein 1
Q8TER0	578	617	584	595	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	578	617	589	604	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	578	617	606	615	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	578	617	580	616	Domain	Note=EGF-like 8;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q8TER0	752	790	25	1413	Chain	ID=PRO_0000299554;Note=Sushi%2C nidogen and EGF-like domain-containing protein 1
Q8TER0	752	790	757	768	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	752	790	762	777	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	752	790	779	788	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	752	790	696	753	Domain	Note=Sushi;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00302
Q8TER0	752	790	753	789	Domain	Note=EGF-like 11%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q8TER0	866	904	25	1413	Chain	ID=PRO_0000299554;Note=Sushi%2C nidogen and EGF-like domain-containing protein 1
Q8TER0	866	904	871	882	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	866	904	876	891	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	866	904	893	902	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q8TER0	866	904	867	903	Domain	Note=EGF-like 14;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q8TER0	1272	1305	1273	1306	Alternative sequence	ID=VSP_027749;Note=In isoform 2 and isoform 3. QPTASAQLENMEEAPKRVSLALQLPEHGSKDIGN->H;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.2;Dbxref=PMID:15489334
Q8TER0	1272	1305	25	1413	Chain	ID=PRO_0000299554;Note=Sushi%2C nidogen and EGF-like domain-containing protein 1
Q8TER0	1272	1305	1289	1289	Natural variant	ID=VAR_034848;Note=R->Q;Dbxref=dbSNP:rs6721345
Q8TER0	1272	1305	1299	1299	Natural variant	ID=VAR_034849;Note=H->R;Dbxref=dbSNP:rs6708120
Q8TER0	1374	1401	1325	1413	Alternative sequence	ID=VSP_027751;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15194686;Dbxref=PMID:15194686
Q8TER0	1374	1401	1375	1402	Alternative sequence	ID=VSP_027752;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q8TER0	1374	1401	1398	1398	Alternative sequence	ID=VSP_027753;Note=In isoform 3. K->L;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8TER0	1374	1401	1399	1413	Alternative sequence	ID=VSP_027754;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8TER0	1374	1401	25	1413	Chain	ID=PRO_0000299554;Note=Sushi%2C nidogen and EGF-like domain-containing protein 1

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SNVs in the skipped exons for SNED1

- 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-G3-A3CJ-01	exon_skip_335729	241979717	241979830	241979739	241979739	Frame_Shift_Del	C	-	p.D394fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_335742	241991161	241991277	241991170	241991170	Frame_Shift_Del	A	-	p.H582fs
LIHC	TCGA-DD-A3A0-01	exon_skip_335742	241991161	241991277	241991231	241991231	Frame_Shift_Del	C	-	p.Y602fs
LIHC	TCGA-DD-A1EG-01	exon_skip_335749	242002208	242002321	242002243	242002243	Frame_Shift_Del	G	-	p.G766fs
THCA	TCGA-H2-A422-01	exon_skip_335751	242010991	242011135	242011113	242011116	Frame_Shift_Del	GAGA	-	p.ET1238fs
KIRC	TCGA-B0-5119-01	exon_skip_335742	241991161	241991277	241991198	241991199	Frame_Shift_Ins	-	G	p.KG591fs
LIHC	TCGA-ES-A2HS-01	exon_skip_335722	241979492	241979605	241979607	241979607	Splice_Site	T	A	.

- 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
2313287_STOMACH	242012681	242012779	242012720	242012720	Frame_Shift_Del	C	-	p.A1286fs
OSC19_UPPER_AERODIGESTIVE_TRACT	242027780	242027817	242027785	242027789	Frame_Shift_Del	AAAGT	-	p.QS1404fs
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	242004260	242004373	242004288	242004289	Frame_Shift_Ins	-	G	p.G877fs
NB14_AUTONOMIC_GANGLIA	241969701	241969988	241969795	241969795	Missense_Mutation	C	A	p.A103D
SNU1040_LARGE_INTESTINE	241969701	241969988	241969833	241969833	Missense_Mutation	G	A	p.V116M
HS229T_FIBROBLAST	241969701	241969988	241969954	241969954	Missense_Mutation	G	A	p.R156Q
HEC108_ENDOMETRIUM	241979492	241979605	241979545	241979545	Missense_Mutation	G	A	p.E367K
SNU175_LARGE_INTESTINE	241979492	241979605	241979558	241979558	Missense_Mutation	C	T	p.A371V
COLO792_SKIN	241991161	241991277	241991182	241991182	Missense_Mutation	C	T	p.S586L
JHUEM1_ENDOMETRIUM	241991161	241991277	241991223	241991223	Missense_Mutation	G	A	p.G600S
SARC9371_BONE	241991161	241991277	241991226	241991226	Missense_Mutation	G	A	p.E601K
MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	242002208	242002321	242002286	242002286	Missense_Mutation	G	T	p.C779F
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	242004260	242004373	242004268	242004268	Missense_Mutation	C	T	p.P870S
DV90_LUNG	242010991	242011135	242011014	242011014	Missense_Mutation	C	T	p.R1205C
OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	242010991	242011135	242011017	242011017	Missense_Mutation	T	C	p.W1206R
CW2_LARGE_INTESTINE	242010991	242011135	242011026	242011026	Missense_Mutation	G	A	p.G1209R
NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	242010991	242011135	242011060	242011060	Missense_Mutation	C	T	p.P1220L
VMRCMELG_SKIN	242010991	242011135	242011069	242011069	Missense_Mutation	C	T	p.A1223V
SH10TC_STOMACH	242012681	242012779	242012683	242012683	Missense_Mutation	C	A	p.P1274T
HEC1A_ENDOMETRIUM	242012681	242012779	242012696	242012696	Missense_Mutation	C	T	p.A1278V
KYSE270_OESOPHAGUS	242012681	242012779	242012752	242012752	Missense_Mutation	C	T	p.P1297S
MOLM16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	242026807	242026890	242026824	242026824	Missense_Mutation	G	A	p.R1380Q
EN_ENDOMETRIUM	242026807	242026890	242026833	242026833	Missense_Mutation	A	G	p.Q1383R
SKUT1_SOFT_TISSUE	242026807	242026890	242026869	242026869	Missense_Mutation	G	A	p.S1395N
HEC265_ENDOMETRIUM	241991161	241991277	241991277	241991277	Splice_Site	G	A	p.G618R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SNED1

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_335763	2	242021091:242021208:242021691:242021779:242026806:242026890	242021691:242021779	ENST00000342631.6,ENST00000310397.8,ENST00000466618.1	COAD	rs2108485	chr2:242021742	G/T	1.77e-04
exon_skip_335763	2	242021091:242021208:242021691:242021779:242026806:242026890	242021691:242021779	ENST00000342631.6,ENST00000310397.8,ENST00000466618.1	COAD	rs2108485	chr2:242021742	G/T	1.77e-04
exon_skip_335763	2	242021091:242021208:242021691:242021779:242026806:242026890	242021691:242021779	ENST00000342631.6,ENST00000310397.8,ENST00000466618.1	KIRC	rs2108485	chr2:242021742	G/T	7.91e-05
exon_skip_335763	2	242021091:242021208:242021691:242021779:242026806:242026890	242021691:242021779	ENST00000342631.6,ENST00000310397.8,ENST00000466618.1	PAAD	rs2108485	chr2:242021742	G/T	4.00e-04
exon_skip_335763	2	242021091:242021208:242021691:242021779:242026806:242026890	242021691:242021779	ENST00000342631.6,ENST00000310397.8,ENST00000466618.1	PRAD	rs2108485	chr2:242021742	G/T	3.31e-05
exon_skip_335763	2	242021091:242021208:242021691:242021779:242026806:242026890	242021691:242021779	ENST00000342631.6,ENST00000310397.8,ENST00000466618.1	THCA	rs2108485	chr2:242021742	G/T	6.13e-05
exon_skip_335763	2	242021091:242021208:242021691:242021779:242026806:242026890	242021691:242021779	ENST00000342631.6,ENST00000310397.8,ENST00000466618.1	THCA	rs2108485	chr2:242021742	G/T	6.13e-05
exon_skip_335763	2	242021091:242021208:242021691:242021779:242026806:242026890	242021691:242021779	ENST00000342631.6,ENST00000310397.8,ENST00000466618.1	THCA	rs2108485	chr2:242021742	G/T	1.46e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SNED1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SNED1

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RelatedDrugs for SNED1

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 SNED1

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

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Gene summary for SNED1

Exon skipping events across known transcript of Ensembl for SNED1 from UCSC genome browser

Gene isoform structures and expression levels for SNED1

Exon skipping events with PSIs in TCGA for SNED1

Exon skipping events with PSIs in GTEx for SNED1

Open reading frame (ORF) annotation in the exon skipping event for SNED1

Infer the effects of exon skipping event on protein functional features for SNED1

SNVs in the skipped exons for SNED1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SNED1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SNED1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SNED1

RelatedDrugs for SNED1

RelatedDiseases for SNED1