ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SIPA1L1

Gene summary

Gene information	Gene symbol	SIPA1L1
	Gene ID	26037
	Gene name	signal induced proliferation associated 1 like 1
	Synonyms	E6TP1
	Cytomap	14q24.2
	Type of gene	protein-coding
	Description	signal-induced proliferation-associated 1-like protein 1SIPA1-like protein 1high-risk human papilloma viruses E6 oncoproteins targeted protein 1
	Modification date	20180519
	UniProtAcc	O43166
	Context	PubMed: SIPA1L1 [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 SIPA1L1 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 SIPA1L1

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 SIPA1L1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_107836	14	71787838:71787898:71846211:71846315:71867510:71867635	71846211:71846315	ENSG00000197555.5	ENST00000556408.1
exon_skip_107837	14	71787838:71787898:71867510:71867635:71880664:71880731	71867510:71867635	ENSG00000197555.5	ENST00000554126.1
exon_skip_107839	14	71787838:71787898:71867510:71867635:71979459:71979562	71867510:71867635	ENSG00000197555.5	ENST00000554362.1
exon_skip_107841	14	71787838:71787898:71880664:71880731:71979459:71979562	71880664:71880731	ENSG00000197555.5	ENST00000555652.1
exon_skip_107849	14	71867510:71867635:71880664:71880731:71979459:71979562	71880664:71880731	ENSG00000197555.5	ENST00000556408.1
exon_skip_107850	14	71867510:71867635:71970544:71970663:71979459:71979562	71970544:71970663	ENSG00000197555.5	ENST00000553453.1
exon_skip_107854	14	71880664:71880731:71884846:71884913:71979459:71979562	71884846:71884913	ENSG00000197555.5	ENST00000554126.1,ENST00000556780.1
exon_skip_107856	14	71880664:71880731:71964570:71964606:71979459:71979562	71964570:71964606	ENSG00000197555.5	ENST00000555989.1
exon_skip_107860	14	71979459:71979562:71995415:71995457:71996028:71996087	71995415:71995457	ENSG00000197555.5	ENST00000554126.1,ENST00000556408.1,ENST00000556780.1,ENST00000557151.1
exon_skip_107861	14	71979459:71979562:71996028:71996087:72043251:72043304	71996028:71996087	ENSG00000197555.5	ENST00000554362.1
exon_skip_107862	14	71979459:71979562:71996028:71996087:72054287:72054339	71996028:71996087	ENSG00000197555.5	ENST00000555652.1
exon_skip_107863	14	71979459:71979562:72043251:72043304:72054287:72054339	72043251:72043304	ENSG00000197555.5	ENST00000555989.1
exon_skip_107865	14	71996041:71996087:72043251:72043304:72054287:72054339	72043251:72043304	ENSG00000197555.5	ENST00000554362.1
exon_skip_107867	14	71996041:71996087:72054287:72056087:72085473:72085604	72054287:72056087	ENSG00000197555.5	ENST00000555818.1,ENST00000381232.3
exon_skip_107870	14	72090764:72090953:72117006:72117226:72125049:72125153	72117006:72117226	ENSG00000197555.5	ENST00000555066.1
exon_skip_107871	14	72090764:72090953:72117051:72117226:72125049:72125153	72117051:72117226	ENSG00000197555.5	ENST00000358550.2,ENST00000555818.1,ENST00000537413.1,ENST00000381232.3
exon_skip_107872	14	72139064:72139339:72152078:72152348:72165697:72165844	72152078:72152348	ENSG00000197555.5	ENST00000358550.2,ENST00000555818.1,ENST00000537413.1,ENST00000381232.3
exon_skip_107876	14	72152078:72152348:72165697:72165844:72169097:72169222	72165697:72165844	ENSG00000197555.5	ENST00000358550.2,ENST00000555818.1,ENST00000537413.1,ENST00000381232.3
exon_skip_107878	14	72169097:72169222:72171437:72171500:72171938:72172057	72171437:72171500	ENSG00000197555.5	ENST00000555818.1
exon_skip_107880	14	72191386:72191552:72196771:72197018:72200382:72200529	72196771:72197018	ENSG00000197555.5	ENST00000358550.2,ENST00000555818.1,ENST00000537413.1,ENST00000554874.1,ENST00000381232.3
exon_skip_107882	14	72200382:72200529:72201993:72202108:72204957:72205042	72201993:72202108	ENSG00000197555.5	ENST00000555818.1,ENST00000554874.1,ENST00000381232.3
exon_skip_107883	14	72200382:72200529:72201993:72202108:72204960:72205042	72201993:72202108	ENSG00000197555.5	ENST00000358550.2,ENST00000537413.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for SIPA1L1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_107837	14	71787838:71787898:71867510:71867635:71880664:71880731	71867510:71867635	ENSG00000197555.5	ENST00000554126.1
exon_skip_107839	14	71787838:71787898:71867510:71867635:71979459:71979562	71867510:71867635	ENSG00000197555.5	ENST00000554362.1
exon_skip_107841	14	71787838:71787898:71880664:71880731:71979459:71979562	71880664:71880731	ENSG00000197555.5	ENST00000555652.1
exon_skip_107849	14	71867510:71867635:71880664:71880731:71979459:71979562	71880664:71880731	ENSG00000197555.5	ENST00000556408.1
exon_skip_107850	14	71867510:71867635:71970544:71970663:71979459:71979562	71970544:71970663	ENSG00000197555.5	ENST00000553453.1
exon_skip_107854	14	71880664:71880731:71884846:71884913:71979459:71979562	71884846:71884913	ENSG00000197555.5	ENST00000554126.1,ENST00000556780.1
exon_skip_107856	14	71880664:71880731:71964570:71964606:71979459:71979562	71964570:71964606	ENSG00000197555.5	ENST00000555989.1
exon_skip_107860	14	71979459:71979562:71995415:71995457:71996028:71996087	71995415:71995457	ENSG00000197555.5	ENST00000556408.1,ENST00000554126.1,ENST00000556780.1,ENST00000557151.1
exon_skip_107861	14	71979459:71979562:71996028:71996087:72043251:72043304	71996028:71996087	ENSG00000197555.5	ENST00000554362.1
exon_skip_107862	14	71979459:71979562:71996028:71996087:72054287:72054339	71996028:71996087	ENSG00000197555.5	ENST00000555652.1
exon_skip_107863	14	71979459:71979562:72043251:72043304:72054287:72054339	72043251:72043304	ENSG00000197555.5	ENST00000555989.1
exon_skip_107865	14	71996041:71996087:72043251:72043304:72054287:72054339	72043251:72043304	ENSG00000197555.5	ENST00000554362.1
exon_skip_107867	14	71996041:71996087:72054287:72056087:72085473:72085604	72054287:72056087	ENSG00000197555.5	ENST00000381232.3,ENST00000555818.1
exon_skip_107870	14	72090764:72090953:72117006:72117226:72125049:72125153	72117006:72117226	ENSG00000197555.5	ENST00000555066.1
exon_skip_107871	14	72090764:72090953:72117051:72117226:72125049:72125153	72117051:72117226	ENSG00000197555.5	ENST00000381232.3,ENST00000555818.1,ENST00000358550.2,ENST00000537413.1
exon_skip_107872	14	72139064:72139339:72152078:72152348:72165697:72165844	72152078:72152348	ENSG00000197555.5	ENST00000381232.3,ENST00000555818.1,ENST00000358550.2,ENST00000537413.1
exon_skip_107876	14	72152078:72152348:72165697:72165844:72169097:72169222	72165697:72165844	ENSG00000197555.5	ENST00000381232.3,ENST00000555818.1,ENST00000358550.2,ENST00000537413.1
exon_skip_107878	14	72169097:72169222:72171437:72171500:72171938:72172057	72171437:72171500	ENSG00000197555.5	ENST00000555818.1
exon_skip_107880	14	72191386:72191552:72196771:72197018:72200382:72200529	72196771:72197018	ENSG00000197555.5	ENST00000381232.3,ENST00000555818.1,ENST00000358550.2,ENST00000537413.1,ENST00000554874.1
exon_skip_107882	14	72200382:72200529:72201993:72202108:72204957:72205042	72201993:72202108	ENSG00000197555.5	ENST00000381232.3,ENST00000555818.1,ENST00000554874.1
exon_skip_107883	14	72200382:72200529:72201993:72202108:72204960:72205042	72201993:72202108	ENSG00000197555.5	ENST00000358550.2,ENST00000537413.1

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 SIPA1L1

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
ENST00000555818	72054287	72056087	5CDS-5UTR
ENST00000555818	72117051	72117226	Frame-shift
ENST00000555818	72196771	72197018	Frame-shift
ENST00000555818	72201993	72202108	Frame-shift
ENST00000555818	72152078	72152348	In-frame
ENST00000555818	72165697	72165844	In-frame
ENST00000555818	72171437	72171500	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
ENST00000555818	72054287	72056087	5CDS-5UTR
ENST00000555818	72117051	72117226	Frame-shift
ENST00000555818	72196771	72197018	Frame-shift
ENST00000555818	72201993	72202108	Frame-shift
ENST00000555818	72152078	72152348	In-frame
ENST00000555818	72165697	72165844	In-frame
ENST00000555818	72171437	72171500	In-frame

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Infer the effects of exon skipping event on protein functional features for SIPA1L1

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
ENST00000555818	7848	1804	72152078	72152348	3453	3722	1035	1124
ENST00000555818	7848	1804	72165697	72165844	3723	3869	1125	1173
ENST00000555818	7848	1804	72171437	72171500	3995	4057	1215	1236

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
ENST00000555818	7848	1804	72152078	72152348	3453	3722	1035	1124
ENST00000555818	7848	1804	72165697	72165844	3723	3869	1125	1173
ENST00000555818	7848	1804	72171437	72171500	3995	4057	1215	1236

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
O43166	1035	1124	1	1804	Chain	ID=PRO_0000056746;Note=Signal-induced proliferation-associated 1-like protein 1
O43166	1035	1124	967	1045	Domain	Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00143
O43166	1035	1124	1078	1078	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O43166	1035	1124	1087	1087	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O43166	1035	1124	1116	1116	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O43166	1125	1173	1	1804	Chain	ID=PRO_0000056746;Note=Signal-induced proliferation-associated 1-like protein 1
O43166	1125	1173	1154	1157	Compositional bias	Note=Poly-Ser
O43166	1125	1173	1127	1127	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8C0T5
O43166	1125	1173	1149	1149	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O43166	1125	1173	1170	1170	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O43166	1215	1236	1216	1236	Alternative sequence	ID=VSP_010917;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:9858596;Dbxref=PMID:14702039,PMID:9858596
O43166	1215	1236	1	1804	Chain	ID=PRO_0000056746;Note=Signal-induced proliferation-associated 1-like 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
O43166	1035	1124	1	1804	Chain	ID=PRO_0000056746;Note=Signal-induced proliferation-associated 1-like protein 1
O43166	1035	1124	967	1045	Domain	Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00143
O43166	1035	1124	1078	1078	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O43166	1035	1124	1087	1087	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O43166	1035	1124	1116	1116	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O43166	1125	1173	1	1804	Chain	ID=PRO_0000056746;Note=Signal-induced proliferation-associated 1-like protein 1
O43166	1125	1173	1154	1157	Compositional bias	Note=Poly-Ser
O43166	1125	1173	1127	1127	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8C0T5
O43166	1125	1173	1149	1149	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O43166	1125	1173	1170	1170	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O43166	1215	1236	1216	1236	Alternative sequence	ID=VSP_010917;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:9858596;Dbxref=PMID:14702039,PMID:9858596
O43166	1215	1236	1	1804	Chain	ID=PRO_0000056746;Note=Signal-induced proliferation-associated 1-like protein 1

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SNVs in the skipped exons for SIPA1L1

- 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.

SIPA1L1_ESCA_exon_skip_107867_psi_boxplot.png
boxplot

SIPA1L1_KIRC_exon_skip_107867_psi_boxplot.png
boxplot

SIPA1L1_LUAD_exon_skip_107867_psi_boxplot.png
boxplot

SIPA1L1_STAD_exon_skip_107867_psi_boxplot.png
boxplot

- 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-A3A0-01	exon_skip_107867	72054288	72056087	72054714	72054714	Frame_Shift_Del	A	-	p.Q42fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_107867	72054288	72056087	72054714	72054714	Frame_Shift_Del	A	-	p.Q42fs
LIHC	TCGA-DD-A39Y-01	exon_skip_107867	72054288	72056087	72054746	72054746	Frame_Shift_Del	C	-	p.P53fs
ESCA	TCGA-R6-A8W8-01	exon_skip_107867	72054288	72056087	72054755	72054755	Frame_Shift_Del	C	-	p.R58fs
LIHC	TCGA-DD-A1EG-01	exon_skip_107867	72054288	72056087	72054755	72054755	Frame_Shift_Del	C	-	p.P57fs
STAD	TCGA-BR-7707-01	exon_skip_107867	72054288	72056087	72054755	72054755	Frame_Shift_Del	C	-	p.G55fs
LIHC	TCGA-DD-A3A0-01	exon_skip_107867	72054288	72056087	72054805	72054805	Frame_Shift_Del	A	-	p.P72fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_107867	72054288	72056087	72054805	72054805	Frame_Shift_Del	A	-	p.P72fs
LIHC	TCGA-DD-A3A0-01	exon_skip_107867	72054288	72056087	72055732	72055732	Frame_Shift_Del	T	-	p.S381fs
STAD	TCGA-RD-A7BT-01	exon_skip_107870 exon_skip_107871	72117007	72117226	72117055	72117055	Frame_Shift_Del	A	-	p.L607fs
STAD	TCGA-RD-A7BT-01	exon_skip_107870 exon_skip_107871	72117007	72117226	72117055	72117055	Frame_Shift_Del	A	-	p.N608fs
STAD	TCGA-RD-A7BT-01	exon_skip_107870 exon_skip_107871	72117052	72117226	72117055	72117055	Frame_Shift_Del	A	-	p.L607fs
STAD	TCGA-RD-A7BT-01	exon_skip_107870 exon_skip_107871	72117052	72117226	72117055	72117055	Frame_Shift_Del	A	-	p.N608fs
KIRC	TCGA-BP-5189-01	exon_skip_107870 exon_skip_107871	72117007	72117226	72117112	72117112	Frame_Shift_Del	G	-	p.E626fs
KIRC	TCGA-BP-5189-01	exon_skip_107870 exon_skip_107871	72117007	72117226	72117112	72117112	Frame_Shift_Del	G	-	p.E627fs
KIRC	TCGA-BP-5189-01	exon_skip_107870 exon_skip_107871	72117052	72117226	72117112	72117112	Frame_Shift_Del	G	-	p.E626fs
KIRC	TCGA-BP-5189-01	exon_skip_107870 exon_skip_107871	72117052	72117226	72117112	72117112	Frame_Shift_Del	G	-	p.E627fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_107876	72165698	72165844	72165754	72165754	Frame_Shift_Del	C	-	p.S1144fs
STAD	TCGA-BR-6452-01	exon_skip_107876	72165698	72165844	72165809	72165809	Frame_Shift_Del	G	-	p.V1162fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_107876	72165698	72165844	72165837	72165837	Frame_Shift_Del	C	-	p.P1172fs
LIHC	TCGA-DD-A1EG-01	exon_skip_107880	72196772	72197018	72196875	72196875	Frame_Shift_Del	G	-	p.R1594fs
LIHC	TCGA-DD-A1EG-01	exon_skip_107880	72196772	72197018	72196883	72196883	Frame_Shift_Del	T	-	p.F1598fs
STAD	TCGA-B7-5816-01	exon_skip_107883 exon_skip_107882	72201994	72202108	72202008	72202008	Frame_Shift_Del	T	-	p.S1695fs
KIRC	TCGA-A3-3331-01	exon_skip_107867	72054288	72056087	72054754	72054755	Frame_Shift_Ins	-	C	p.GP55fs
LUAD	TCGA-44-2659-01	exon_skip_107867	72054288	72056087	72054754	72054755	Frame_Shift_Ins	-	C	p.GP55fs
UCEC	TCGA-AP-A0LE-01	exon_skip_107867	72054288	72056087	72054754	72054755	Frame_Shift_Ins	-	C	p.G55fs
UCS	TCGA-N7-A4Y0-01	exon_skip_107867	72054288	72056087	72054754	72054755	Frame_Shift_Ins	-	C	p.G55fs
UCS	TCGA-N7-A4Y0-01	exon_skip_107867	72054288	72056087	72054754	72054755	Frame_Shift_Ins	-	C	p.GP55fs
LUAD	TCGA-67-3772-01	exon_skip_107876	72165698	72165844	72165808	72165809	Frame_Shift_Ins	-	G	p.V1162fs
STAD	TCGA-BR-8361-01	exon_skip_107876	72165698	72165844	72165808	72165809	Frame_Shift_Ins	-	G	p.V1162fs
STAD	TCGA-BR-8361-01	exon_skip_107876	72165698	72165844	72165809	72165810	Frame_Shift_Ins	-	G	p.V1162fs
LIHC	TCGA-BC-A112-01	exon_skip_107883 exon_skip_107882	72201994	72202108	72202007	72202008	Frame_Shift_Ins	-	T	p.SF1695fs
UCEC	TCGA-AX-A0J0-01	exon_skip_107867	72054288	72056087	72054863	72054863	Nonsense_Mutation	G	T	p.E92*
UCEC	TCGA-BS-A0UF-01	exon_skip_107867	72054288	72056087	72055106	72055106	Nonsense_Mutation	C	T	p.R173*
READ	TCGA-AG-A002-01	exon_skip_107867	72054288	72056087	72055295	72055295	Nonsense_Mutation	C	T	p.R236X
PAAD	TCGA-OE-A75W-01	exon_skip_107867	72054288	72056087	72055521	72055521	Nonsense_Mutation	C	A	p.S311*
ESCA	TCGA-R6-A6Y2-01	exon_skip_107870 exon_skip_107871	72117007	72117226	72117169	72117169	Nonsense_Mutation	G	T	p.G646*
ESCA	TCGA-R6-A6Y2-01	exon_skip_107870 exon_skip_107871	72117007	72117226	72117169	72117169	Nonsense_Mutation	G	T	p.G646X
ESCA	TCGA-R6-A6Y2-01	exon_skip_107870 exon_skip_107871	72117052	72117226	72117169	72117169	Nonsense_Mutation	G	T	p.G646*
ESCA	TCGA-R6-A6Y2-01	exon_skip_107870 exon_skip_107871	72117052	72117226	72117169	72117169	Nonsense_Mutation	G	T	p.G646X
COAD	TCGA-D5-6930-01	exon_skip_107870 exon_skip_107871	72117007	72117226	72117175	72117175	Nonsense_Mutation	C	T	p.R648X
COAD	TCGA-D5-6930-01	exon_skip_107870 exon_skip_107871	72117052	72117226	72117175	72117175	Nonsense_Mutation	C	T	p.R648X
UCEC	TCGA-AP-A051-01	exon_skip_107870 exon_skip_107871	72117007	72117226	72117175	72117175	Nonsense_Mutation	C	T	p.R648*
UCEC	TCGA-AP-A051-01	exon_skip_107870 exon_skip_107871	72117052	72117226	72117175	72117175	Nonsense_Mutation	C	T	p.R648*
COAD	TCGA-CM-5861-01	exon_skip_107870 exon_skip_107871	72117007	72117226	72117190	72117190	Nonsense_Mutation	G	T	p.G653X
COAD	TCGA-CM-5861-01	exon_skip_107870 exon_skip_107871	72117052	72117226	72117190	72117190	Nonsense_Mutation	G	T	p.G653X
STAD	TCGA-CD-A4MG-01	exon_skip_107870 exon_skip_107871	72117007	72117226	72117190	72117190	Nonsense_Mutation	G	T	p.G653*
STAD	TCGA-CD-A4MG-01	exon_skip_107870 exon_skip_107871	72117007	72117226	72117190	72117190	Nonsense_Mutation	G	T	p.G653X
STAD	TCGA-CD-A4MG-01	exon_skip_107870 exon_skip_107871	72117052	72117226	72117190	72117190	Nonsense_Mutation	G	T	p.G653*
STAD	TCGA-CD-A4MG-01	exon_skip_107870 exon_skip_107871	72117052	72117226	72117190	72117190	Nonsense_Mutation	G	T	p.G653X
THYM	TCGA-XU-A936-01	exon_skip_107870 exon_skip_107871	72117007	72117226	72117205	72117205	Nonsense_Mutation	C	T	p.R658*
THYM	TCGA-XU-A936-01	exon_skip_107870 exon_skip_107871	72117007	72117226	72117205	72117205	Nonsense_Mutation	C	T	p.R658X
THYM	TCGA-XU-A936-01	exon_skip_107870 exon_skip_107871	72117052	72117226	72117205	72117205	Nonsense_Mutation	C	T	p.R658*
THYM	TCGA-XU-A936-01	exon_skip_107870 exon_skip_107871	72117052	72117226	72117205	72117205	Nonsense_Mutation	C	T	p.R658X
PAAD	TCGA-IB-7651-01	exon_skip_107872	72152079	72152348	72152161	72152161	Nonsense_Mutation	C	T	p.R1063*
PAAD	TCGA-IB-7651-01	exon_skip_107872	72152079	72152348	72152161	72152161	Nonsense_Mutation	C	T	p.R1063X
LUAD	TCGA-17-Z031-01	exon_skip_107876	72165698	72165844	72165840	72165840	Nonsense_Mutation	G	T	p.E1173*
LUAD	TCGA-86-6851-01	exon_skip_107880	72196772	72197018	72196853	72196853	Nonsense_Mutation	G	T	p.E1587*
SKCM	TCGA-FS-A1ZA-06	exon_skip_107880	72196772	72197018	72197010	72197010	Nonsense_Mutation	C	A	p.S1639*
STAD	TCGA-CG-5721-01	exon_skip_107867	72054288	72056087	72056089	72056089	Splice_Site	T	C	.
STAD	TCGA-CG-5721-01	exon_skip_107867	72054288	72056087	72056089	72056089	Splice_Site	T	C	p.E500_splice
UCEC	TCGA-B5-A0JY-01	exon_skip_107870 exon_skip_107871	72117052	72117226	72117051	72117051	Splice_Site	G	A	e4-1
SARC	TCGA-QC-A7B5-01	exon_skip_107872	72152079	72152348	72152078	72152078	Splice_Site	G	A	e9-1
SKCM	TCGA-EE-A29S-06	exon_skip_107883 exon_skip_107882	72201994	72202108	72202110	72202110	Splice_Site	T	C	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CG-5721-01
	Cancer type: STAD
	ESID: exon_skip_107867
	Skipped exon start: 72054288
	Skipped exon end: 72056087
	Mutation start: 72056089
	Mutation end: 72056089
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: C
	AAchange: .
	Sample: TCGA-CG-5721-01
	Cancer type: STAD
	ESID: exon_skip_107867
	Skipped exon start: 72054288
	Skipped exon end: 72056087
	Mutation start: 72056089
	Mutation end: 72056089
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: C
	AAchange: p.E500_splice
exon_skip_107493_STAD_TCGA-CG-5721-01.png
exon_skip_107867_STAD_TCGA-CG-5721-01.png
exon_skip_123973_STAD_TCGA-CG-5721-01.png
exon_skip_124728_STAD_TCGA-CG-5721-01.png
exon_skip_20583_STAD_TCGA-CG-5721-01.png
exon_skip_284550_STAD_TCGA-CG-5721-01.png
exon_skip_287086_STAD_TCGA-CG-5721-01.png
exon_skip_287092_STAD_TCGA-CG-5721-01.png
exon_skip_328008_STAD_TCGA-CG-5721-01.png
exon_skip_347989_STAD_TCGA-CG-5721-01.png
exon_skip_360357_STAD_TCGA-CG-5721-01.png
exon_skip_360359_STAD_TCGA-CG-5721-01.png
exon_skip_361242_STAD_TCGA-CG-5721-01.png
exon_skip_363554_STAD_TCGA-CG-5721-01.png
exon_skip_370065_STAD_TCGA-CG-5721-01.png
exon_skip_377240_STAD_TCGA-CG-5721-01.png
exon_skip_378735_STAD_TCGA-CG-5721-01.png
exon_skip_41850_STAD_TCGA-CG-5721-01.png
exon_skip_425098_STAD_TCGA-CG-5721-01.png
exon_skip_443908_STAD_TCGA-CG-5721-01.png
exon_skip_449553_STAD_TCGA-CG-5721-01.png
exon_skip_452918_STAD_TCGA-CG-5721-01.png
exon_skip_454809_STAD_TCGA-CG-5721-01.png
exon_skip_462689_STAD_TCGA-CG-5721-01.png
exon_skip_482821_STAD_TCGA-CG-5721-01.png
exon_skip_482822_STAD_TCGA-CG-5721-01.png
exon_skip_487878_STAD_TCGA-CG-5721-01.png
exon_skip_502793_STAD_TCGA-CG-5721-01.png
exon_skip_508189_STAD_TCGA-CG-5721-01.png
exon_skip_516607_STAD_TCGA-CG-5721-01.png
exon_skip_54935_STAD_TCGA-CG-5721-01.png
exon_skip_96977_STAD_TCGA-CG-5721-01.png
	Sample: TCGA-R6-A8W8-01
	Cancer type: ESCA
	ESID: exon_skip_107867
	Skipped exon start: 72054288
	Skipped exon end: 72056087
	Mutation start: 72054755
	Mutation end: 72054755
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.R58fs
exon_skip_107170_ESCA_TCGA-R6-A8W8-01.png
exon_skip_107867_ESCA_TCGA-R6-A8W8-01.png
exon_skip_286384_ESCA_TCGA-R6-A8W8-01.png
exon_skip_70600_ESCA_TCGA-R6-A8W8-01.png
	Sample: TCGA-A3-3331-01
	Cancer type: KIRC
	ESID: exon_skip_107867
	Skipped exon start: 72054288
	Skipped exon end: 72056087
	Mutation start: 72054754
	Mutation end: 72054755
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.GP55fs
exon_skip_107867_KIRC_TCGA-A3-3331-01.png
exon_skip_142044_KIRC_TCGA-A3-3331-01.png
	Sample: TCGA-BR-7707-01
	Cancer type: STAD
	ESID: exon_skip_107867
	Skipped exon start: 72054288
	Skipped exon end: 72056087
	Mutation start: 72054755
	Mutation end: 72054755
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.G55fs
exon_skip_107867_STAD_TCGA-BR-7707-01.png
exon_skip_133403_STAD_TCGA-BR-7707-01.png
exon_skip_138373_STAD_TCGA-BR-7707-01.png
exon_skip_143275_STAD_TCGA-BR-7707-01.png
exon_skip_149455_STAD_TCGA-BR-7707-01.png
exon_skip_333295_STAD_TCGA-BR-7707-01.png
exon_skip_333833_STAD_TCGA-BR-7707-01.png
exon_skip_358288_STAD_TCGA-BR-7707-01.png
exon_skip_456871_STAD_TCGA-BR-7707-01.png
exon_skip_461351_STAD_TCGA-BR-7707-01.png
exon_skip_464232_STAD_TCGA-BR-7707-01.png
exon_skip_48394_STAD_TCGA-BR-7707-01.png
exon_skip_82386_STAD_TCGA-BR-7707-01.png
exon_skip_82432_STAD_TCGA-BR-7707-01.png
exon_skip_82433_STAD_TCGA-BR-7707-01.png
exon_skip_86786_STAD_TCGA-BR-7707-01.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
CW2_LARGE_INTESTINE	72054288	72056087	72055252	72055253	Frame_Shift_Ins	-	T	p.F222fs
ISTSL1_LUNG	72054288	72056087	72054608	72054608	Missense_Mutation	T	C	p.S7P
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72054288	72056087	72054702	72054702	Missense_Mutation	G	A	p.R38H
ECC12_STOMACH	72054288	72056087	72054870	72054870	Missense_Mutation	G	T	p.S94I
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72054288	72056087	72054910	72054910	Missense_Mutation	T	G	p.D107E
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72054288	72056087	72054926	72054926	Missense_Mutation	A	G	p.S113G
BICR18_UPPER_AERODIGESTIVE_TRACT	72054288	72056087	72054926	72054926	Missense_Mutation	A	G	p.S113G
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72054288	72056087	72054938	72054938	Missense_Mutation	A	T	p.S117C
MCC142_SKIN	72054288	72056087	72054945	72054945	Missense_Mutation	G	T	p.G119V
HGC27_STOMACH	72054288	72056087	72054947	72054947	Missense_Mutation	A	G	p.S120G
C4I_CERVIX	72054288	72056087	72055058	72055058	Missense_Mutation	G	A	p.E157K
LNCAPCLONEFGC_PROSTATE	72054288	72056087	72055116	72055116	Missense_Mutation	G	T	p.S176I
A375_SKIN	72054288	72056087	72055252	72055252	Missense_Mutation	C	G	p.S221R
SKMM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72054288	72056087	72055293	72055293	Missense_Mutation	A	C	p.D235A
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72054288	72056087	72055305	72055305	Missense_Mutation	C	T	p.T239I
CW2_LARGE_INTESTINE	72054288	72056087	72055416	72055416	Missense_Mutation	A	G	p.K276R
RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72054288	72056087	72055539	72055539	Missense_Mutation	G	A	p.R317Q
SISO_CERVIX	72054288	72056087	72055575	72055575	Missense_Mutation	A	G	p.K329R
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72054288	72056087	72055575	72055575	Missense_Mutation	A	G	p.K329R
SKNAS_AUTONOMIC_GANGLIA	72054288	72056087	72055583	72055583	Missense_Mutation	G	A	p.A332T
MCC13_SKIN	72054288	72056087	72055740	72055740	Missense_Mutation	C	T	p.S384F
WM2664_SKIN	72054288	72056087	72055743	72055743	Missense_Mutation	C	A	p.P385Q
WM115_SKIN	72054288	72056087	72055743	72055743	Missense_Mutation	C	A	p.P385Q
HCC1359_LUNG	72054288	72056087	72055775	72055775	Missense_Mutation	G	A	p.G396R
HCC1359_LUNG	72054288	72056087	72055776	72055776	Missense_Mutation	G	T	p.G396V
GP5D_LARGE_INTESTINE	72054288	72056087	72055778	72055778	Missense_Mutation	A	G	p.S397G
639V_URINARY_TRACT	72054288	72056087	72055785	72055785	Missense_Mutation	G	A	p.S399N
DOV13_OVARY	72054288	72056087	72055807	72055807	Missense_Mutation	A	C	p.K406N
HS294T_SKIN	72054288	72056087	72055807	72055807	Missense_Mutation	A	C	p.K406N
UMUC3_URINARY_TRACT	72054288	72056087	72055847	72055847	Missense_Mutation	G	A	p.E420K
CL34_LARGE_INTESTINE	72054288	72056087	72055880	72055880	Missense_Mutation	C	A	p.L431I
NBTU110_AUTONOMIC_GANGLIA	72054288	72056087	72055970	72055970	Missense_Mutation	G	A	p.A461T
CCLFPEDS0008T_SOFT_TISSUE	72054288	72056087	72056049	72056049	Missense_Mutation	T	C	p.L487P
SNU81_LARGE_INTESTINE	72054288	72056087	72056067	72056067	Missense_Mutation	G	T	p.R493I
NCIH740_LUNG	72117007	72117226	72117057	72117057	Missense_Mutation	C	G	p.N608K
NCIH740_LUNG	72117052	72117226	72117057	72117057	Missense_Mutation	C	G	p.N608K
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72117007	72117226	72117106	72117106	Missense_Mutation	G	A	p.E625K
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72117052	72117226	72117106	72117106	Missense_Mutation	G	A	p.E625K
HCC2998_LARGE_INTESTINE	72117007	72117226	72117181	72117181	Missense_Mutation	C	T	p.R650W
HCC2998_LARGE_INTESTINE	72117052	72117226	72117181	72117181	Missense_Mutation	C	T	p.R650W
MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72152079	72152348	72152087	72152087	Missense_Mutation	C	G	p.S1038C
GP2D_LARGE_INTESTINE	72152079	72152348	72152122	72152122	Missense_Mutation	A	G	p.M1050V
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72152079	72152348	72152138	72152138	Missense_Mutation	C	T	p.S1055L
IMR5_AUTONOMIC_GANGLIA	72152079	72152348	72152209	72152209	Missense_Mutation	C	T	p.P1079S
SNU1_STOMACH	72152079	72152348	72152281	72152281	Missense_Mutation	C	T	p.P1103S
639V_URINARY_TRACT	72152079	72152348	72152281	72152281	Missense_Mutation	C	T	p.P1103S
HCT116_LARGE_INTESTINE	72152079	72152348	72152323	72152323	Missense_Mutation	A	G	p.S1117G
NCIH520_LUNG	72152079	72152348	72152335	72152335	Missense_Mutation	C	T	p.P1121S
NCIH1437_LUNG	72165698	72165844	72165763	72165763	Missense_Mutation	G	A	p.R1147Q
NCIBL1437_MATCHED_NORMAL_TISSUE	72165698	72165844	72165763	72165763	Missense_Mutation	G	A	p.R1147Q
CL11_LARGE_INTESTINE	72165698	72165844	72165822	72165822	Missense_Mutation	A	T	p.R1167W
MRKNU1_BREAST	72165698	72165844	72165840	72165840	Missense_Mutation	G	A	p.E1173K
NCIH650_LUNG	72196772	72197018	72196809	72196809	Missense_Mutation	G	T	p.S1572I
EN_ENDOMETRIUM	72196772	72197018	72196868	72196868	Missense_Mutation	A	G	p.S1592G
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72196772	72197018	72196883	72196883	Missense_Mutation	T	C	p.F1597L
BE2M17_AUTONOMIC_GANGLIA	72196772	72197018	72196917	72196917	Missense_Mutation	C	A	p.A1608D
SKNBE2_AUTONOMIC_GANGLIA	72196772	72197018	72196917	72196917	Missense_Mutation	C	A	p.A1608D
THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72196772	72197018	72196956	72196956	Missense_Mutation	C	T	p.S1621F
MZ7MEL_SKIN	72196772	72197018	72196961	72196961	Missense_Mutation	C	T	p.P1623S
OCUBM_BREAST	72196772	72197018	72196985	72196985	Missense_Mutation	C	T	p.P1631S
KATOIII_STOMACH	72196772	72197018	72196986	72196986	Missense_Mutation	C	G	p.P1631R
JHUEM7_ENDOMETRIUM	72201994	72202108	72202035	72202035	Missense_Mutation	C	T	p.R1705C
UDSCC2_UPPER_AERODIGESTIVE_TRACT	72201994	72202108	72202036	72202036	Missense_Mutation	G	A	p.R1705H
INA6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72054288	72056087	72056066	72056066	Nonsense_Mutation	A	T	p.R493*
SNUC5_LARGE_INTESTINE	72152079	72152348	72152161	72152161	Nonsense_Mutation	C	T	p.R1063*
BICR18_UPPER_AERODIGESTIVE_TRACT	72152079	72152348	72152347	72152347	Splice_Site	C	A	p.R1125R
HEC251_ENDOMETRIUM	72201994	72202108	72201994	72201994	Splice_Site	T	C	p.V1691A

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SIPA1L1

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 SIPA1L1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SIPA1L1

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RelatedDrugs for SIPA1L1

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 SIPA1L1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
SIPA1L1	C0043094	Weight Gain	1	CTD_human
SIPA1L1	C3495559	Juvenile arthritis	1	CTD_human

	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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