ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SEC24B

Gene summary

Gene information	Gene symbol	SEC24B
	Gene ID	10427
	Gene name	SEC24 homolog B, COPII coat complex component
	Synonyms	SEC24
	Cytomap	4q25
	Type of gene	protein-coding
	Description	protein transport protein Sec24BSEC24 related gene family, member Bsecretory protein 24
	Modification date	20180519
	UniProtAcc	O95487
	Context	PubMed: SEC24B [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
SEC24B	GO:0090110	cargo loading into COPII-coated vesicle	17499046\|18843296

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Exon skipping events across known transcript of Ensembl for SEC24B 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 SEC24B

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 SEC24B

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_425612	4	110354970:110355158:110384056:110384800:110394159:110394342	110384056:110384800	ENSG00000138802.7	ENST00000265175.5,ENST00000399100.2
exon_skip_425615	4	110384056:110384800:110394159:110394342:110402832:110402937	110394159:110394342	ENSG00000138802.7	ENST00000265175.5,ENST00000504968.2
exon_skip_425616	4	110384056:110384800:110394159:110394342:110412482:110412563	110394159:110394342	ENSG00000138802.7	ENST00000399100.2
exon_skip_425623	4	110394165:110394342:110402832:110402937:110412482:110412563	110402832:110402937	ENSG00000138802.7	ENST00000265175.5,ENST00000504968.2
exon_skip_425625	4	110394159:110394342:110412482:110412563:110415770:110416012	110412482:110412563	ENSG00000138802.7	ENST00000399100.2
exon_skip_425626	4	110402832:110402937:110412482:110412563:110415770:110416012	110412482:110412563	ENSG00000138802.7	ENST00000265175.5,ENST00000504968.2
exon_skip_425628	4	110415770:110416012:110427483:110427668:110431164:110431267	110427483:110427668	ENSG00000138802.7	ENST00000265175.5,ENST00000399100.2
exon_skip_425630	4	110415770:110416012:110427486:110427668:110431164:110431267	110427486:110427668	ENSG00000138802.7	ENST00000504968.2
exon_skip_425631	4	110433112:110433239:110434902:110435012:110437683:110437796	110434902:110435012	ENSG00000138802.7	ENST00000265175.5,ENST00000504968.2,ENST00000399100.2
exon_skip_425633	4	110442272:110442328:110442575:110442782:110445973:110446097	110442575:110442782	ENSG00000138802.7	ENST00000265175.5,ENST00000504968.2,ENST00000399100.2
exon_skip_425635	4	110447381:110447555:110448477:110448588:110451444:110451620	110448477:110448588	ENSG00000138802.7	ENST00000265175.5,ENST00000504968.2,ENST00000399100.2
exon_skip_425636	4	110448477:110448588:110451444:110451620:110452540:110452678	110451444:110451620	ENSG00000138802.7	ENST00000265175.5,ENST00000504968.2,ENST00000399100.2
exon_skip_425637	4	110451444:110451620:110452540:110452678:110453794:110453899	110452540:110452678	ENSG00000138802.7	ENST00000265175.5,ENST00000504968.2,ENST00000399100.2
exon_skip_425639	4	110454748:110454841:110459648:110459752:110460716:110460852	110459648:110459752	ENSG00000138802.7	ENST00000265175.5,ENST00000504968.2,ENST00000399100.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for SEC24B

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_425612	4	110354970:110355158:110384056:110384800:110394159:110394342	110384056:110384800	ENSG00000138802.7	ENST00000399100.2,ENST00000265175.5
exon_skip_425615	4	110384056:110384800:110394159:110394342:110402832:110402937	110394159:110394342	ENSG00000138802.7	ENST00000504968.2,ENST00000265175.5
exon_skip_425616	4	110384056:110384800:110394159:110394342:110412482:110412563	110394159:110394342	ENSG00000138802.7	ENST00000399100.2
exon_skip_425623	4	110394165:110394342:110402832:110402937:110412482:110412563	110402832:110402937	ENSG00000138802.7	ENST00000504968.2,ENST00000265175.5
exon_skip_425625	4	110394159:110394342:110412482:110412563:110415770:110416012	110412482:110412563	ENSG00000138802.7	ENST00000399100.2
exon_skip_425626	4	110402832:110402937:110412482:110412563:110415770:110416012	110412482:110412563	ENSG00000138802.7	ENST00000504968.2,ENST00000265175.5
exon_skip_425628	4	110415770:110416012:110427483:110427668:110431164:110431267	110427483:110427668	ENSG00000138802.7	ENST00000399100.2,ENST00000265175.5
exon_skip_425630	4	110415770:110416012:110427486:110427668:110431164:110431267	110427486:110427668	ENSG00000138802.7	ENST00000504968.2
exon_skip_425631	4	110433112:110433239:110434902:110435012:110437683:110437796	110434902:110435012	ENSG00000138802.7	ENST00000504968.2,ENST00000399100.2,ENST00000265175.5
exon_skip_425633	4	110442272:110442328:110442575:110442782:110445973:110446097	110442575:110442782	ENSG00000138802.7	ENST00000504968.2,ENST00000399100.2,ENST00000265175.5
exon_skip_425635	4	110447381:110447555:110448477:110448588:110451444:110451620	110448477:110448588	ENSG00000138802.7	ENST00000504968.2,ENST00000399100.2,ENST00000265175.5
exon_skip_425636	4	110448477:110448588:110451444:110451620:110452540:110452678	110451444:110451620	ENSG00000138802.7	ENST00000504968.2,ENST00000399100.2,ENST00000265175.5
exon_skip_425637	4	110451444:110451620:110452540:110452678:110453794:110453899	110452540:110452678	ENSG00000138802.7	ENST00000504968.2,ENST00000399100.2,ENST00000265175.5
exon_skip_425639	4	110454748:110454841:110459648:110459752:110460716:110460852	110459648:110459752	ENSG00000138802.7	ENST00000504968.2,ENST00000399100.2,ENST00000265175.5

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 SEC24B

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
ENST00000265175	110427483	110427668	Frame-shift
ENST00000265175	110434902	110435012	Frame-shift
ENST00000265175	110451444	110451620	Frame-shift
ENST00000265175	110459648	110459752	Frame-shift
ENST00000265175	110384056	110384800	In-frame
ENST00000265175	110394159	110394342	In-frame
ENST00000265175	110402832	110402937	In-frame
ENST00000265175	110412482	110412563	In-frame
ENST00000265175	110442575	110442782	In-frame
ENST00000265175	110448477	110448588	In-frame
ENST00000265175	110452540	110452678	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
ENST00000265175	110427483	110427668	Frame-shift
ENST00000265175	110434902	110435012	Frame-shift
ENST00000265175	110451444	110451620	Frame-shift
ENST00000265175	110459648	110459752	Frame-shift
ENST00000265175	110384056	110384800	In-frame
ENST00000265175	110394159	110394342	In-frame
ENST00000265175	110402832	110402937	In-frame
ENST00000265175	110412482	110412563	In-frame
ENST00000265175	110442575	110442782	In-frame
ENST00000265175	110448477	110448588	In-frame
ENST00000265175	110452540	110452678	In-frame

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Infer the effects of exon skipping event on protein functional features for SEC24B

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
ENST00000265175	5100	1268	110384056	110384800	189	932	44	292
ENST00000265175	5100	1268	110394159	110394342	933	1115	292	353
ENST00000265175	5100	1268	110402832	110402937	1116	1220	353	388
ENST00000265175	5100	1268	110412482	110412563	1221	1301	388	415
ENST00000265175	5100	1268	110442575	110442782	2357	2563	767	836
ENST00000265175	5100	1268	110448477	110448588	3021	3131	988	1025
ENST00000265175	5100	1268	110452540	110452678	3308	3445	1084	1130

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
ENST00000265175	5100	1268	110384056	110384800	189	932	44	292
ENST00000265175	5100	1268	110394159	110394342	933	1115	292	353
ENST00000265175	5100	1268	110402832	110402937	1116	1220	353	388
ENST00000265175	5100	1268	110412482	110412563	1221	1301	388	415
ENST00000265175	5100	1268	110442575	110442782	2357	2563	767	836
ENST00000265175	5100	1268	110448477	110448588	3021	3131	988	1025
ENST00000265175	5100	1268	110452540	110452678	3308	3445	1084	1130

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
O95487	44	292	44	44	Alternative sequence	ID=VSP_054432;Note=In isoform 3. N->NETGFHHVAQASLELLDPSNLPASASQIAGST;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O95487	44	292	2	1268	Chain	ID=PRO_0000205155;Note=Protein transport protein Sec24B
O95487	292	353	2	1268	Chain	ID=PRO_0000205155;Note=Protein transport protein Sec24B
O95487	292	353	329	329	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O95487	353	388	354	388	Alternative sequence	ID=VSP_035987;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O95487	353	388	2	1268	Chain	ID=PRO_0000205155;Note=Protein transport protein Sec24B
O95487	353	388	379	387	Compositional bias	Note=Poly-Glu
O95487	388	415	354	388	Alternative sequence	ID=VSP_035987;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O95487	388	415	2	1268	Chain	ID=PRO_0000205155;Note=Protein transport protein Sec24B
O95487	767	836	806	812	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	767	836	835	837	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	767	836	2	1268	Chain	ID=PRO_0000205155;Note=Protein transport protein Sec24B
O95487	767	836	766	775	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	767	836	776	778	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	767	836	790	801	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	767	836	831	834	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	767	836	802	804	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	988	1025	991	1003	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	988	1025	2	1268	Chain	ID=PRO_0000205155;Note=Protein transport protein Sec24B
O95487	988	1025	1006	1011	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	988	1025	1015	1032	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	1084	1130	1120	1123	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	1084	1130	2	1268	Chain	ID=PRO_0000205155;Note=Protein transport protein Sec24B
O95487	1084	1130	1095	1107	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	1084	1130	1110	1117	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	1084	1130	1085	1087	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1

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
O95487	44	292	44	44	Alternative sequence	ID=VSP_054432;Note=In isoform 3. N->NETGFHHVAQASLELLDPSNLPASASQIAGST;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O95487	44	292	2	1268	Chain	ID=PRO_0000205155;Note=Protein transport protein Sec24B
O95487	292	353	2	1268	Chain	ID=PRO_0000205155;Note=Protein transport protein Sec24B
O95487	292	353	329	329	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O95487	353	388	354	388	Alternative sequence	ID=VSP_035987;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O95487	353	388	2	1268	Chain	ID=PRO_0000205155;Note=Protein transport protein Sec24B
O95487	353	388	379	387	Compositional bias	Note=Poly-Glu
O95487	388	415	354	388	Alternative sequence	ID=VSP_035987;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O95487	388	415	2	1268	Chain	ID=PRO_0000205155;Note=Protein transport protein Sec24B
O95487	767	836	806	812	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	767	836	835	837	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	767	836	2	1268	Chain	ID=PRO_0000205155;Note=Protein transport protein Sec24B
O95487	767	836	766	775	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	767	836	776	778	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	767	836	790	801	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	767	836	831	834	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	767	836	802	804	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	988	1025	991	1003	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	988	1025	2	1268	Chain	ID=PRO_0000205155;Note=Protein transport protein Sec24B
O95487	988	1025	1006	1011	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	988	1025	1015	1032	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	1084	1130	1120	1123	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	1084	1130	2	1268	Chain	ID=PRO_0000205155;Note=Protein transport protein Sec24B
O95487	1084	1130	1095	1107	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	1084	1130	1110	1117	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1
O95487	1084	1130	1085	1087	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EH1

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SNVs in the skipped exons for SEC24B

- 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.

SEC24B_LIHC_exon_skip_425633_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
BLCA	TCGA-CF-A47X-01	exon_skip_425612	110384057	110384800	110384059	110384059	Frame_Shift_Del	C	-	p.P46fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_425615 exon_skip_425616	110394160	110394342	110394170	110394170	Frame_Shift_Del	T	-	p.S296fs
LIHC	TCGA-DD-A3A0-01	exon_skip_425633	110442576	110442782	110442643	110442643	Frame_Shift_Del	T	-	p.L790fs
LIHC	TCGA-DD-A3A1-01	exon_skip_425636	110451445	110451620	110451588	110451588	Frame_Shift_Del	T	-	p.F1074fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_425636	110451445	110451620	110451601	110451601	Frame_Shift_Del	T	-	p.V1078fs
HNSC	TCGA-D6-6825-01	exon_skip_425637	110452541	110452678	110452620	110452620	Frame_Shift_Del	T	-	p.V1111fs
LIHC	TCGA-ED-A7XP-01	exon_skip_425612	110384057	110384800	110384263	110384263	Nonsense_Mutation	C	T	p.Q114*
LIHC	TCGA-ED-A7XP-01	exon_skip_425612	110384057	110384800	110384263	110384263	Nonsense_Mutation	C	T	p.Q114X
BLCA	TCGA-G2-A3VY-01	exon_skip_425612	110384057	110384800	110384480	110384480	Nonsense_Mutation	C	G	p.S186*
HNSC	TCGA-RS-A6TP-01	exon_skip_425615 exon_skip_425616	110394160	110394342	110394259	110394259	Nonsense_Mutation	C	G	p.S326*
UCEC	TCGA-D1-A16Y-01	exon_skip_425631	110434903	110435012	110434911	110434911	Nonsense_Mutation	G	T	p.E638*
ESCA	TCGA-LN-A49Y-01	exon_skip_425635	110448478	110448588	110448546	110448546	Nonsense_Mutation	G	T	p.G1012X
LUAD	TCGA-64-1678-01	exon_skip_425635	110448478	110448588	110448546	110448546	Nonsense_Mutation	G	T	p.G1012*
LIHC	TCGA-G3-A5SL-01	exon_skip_425633	110442576	110442782	110442575	110442575	Splice_Site	G	A	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-G3-A5SL-01
	Cancer type: LIHC
	ESID: exon_skip_425633
	Skipped exon start: 110442576
	Skipped exon end: 110442782
	Mutation start: 110442575
	Mutation end: 110442575
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: .
exon_skip_123579_LIHC_TCGA-G3-A5SL-01.png
exon_skip_425633_LIHC_TCGA-G3-A5SL-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
HUG1N_STOMACH	110427487	110427668	110427645	110427646	Frame_Shift_Ins	-	A	p.K551fs
HUG1N_STOMACH	110427484	110427668	110427645	110427646	Frame_Shift_Ins	-	A	p.K551fs
JVM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	110427487	110427668	110427645	110427646	Frame_Shift_Ins	-	A	p.K551fs
JVM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	110427484	110427668	110427645	110427646	Frame_Shift_Ins	-	A	p.K551fs
KG1C_CENTRAL_NERVOUS_SYSTEM	110427487	110427668	110427645	110427646	Frame_Shift_Ins	-	A	p.K551fs
KG1C_CENTRAL_NERVOUS_SYSTEM	110427484	110427668	110427645	110427646	Frame_Shift_Ins	-	A	p.K551fs
MDAMB175VII_BREAST	110427487	110427668	110427645	110427646	Frame_Shift_Ins	-	A	p.K551fs
MDAMB175VII_BREAST	110427484	110427668	110427645	110427646	Frame_Shift_Ins	-	A	p.K551fs
SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	110427487	110427668	110427645	110427646	Frame_Shift_Ins	-	A	p.K551fs
SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	110427484	110427668	110427645	110427646	Frame_Shift_Ins	-	A	p.K551fs
SW480_LARGE_INTESTINE	110427487	110427668	110427645	110427646	Frame_Shift_Ins	-	A	p.K551fs
SW480_LARGE_INTESTINE	110427484	110427668	110427645	110427646	Frame_Shift_Ins	-	A	p.K551fs
TTC549_SOFT_TISSUE	110427487	110427668	110427645	110427646	Frame_Shift_Ins	-	A	p.K551fs
TTC549_SOFT_TISSUE	110427484	110427668	110427645	110427646	Frame_Shift_Ins	-	A	p.K551fs
HEC6_ENDOMETRIUM	110384057	110384800	110384290	110384290	Missense_Mutation	G	A	p.A123T
TE15_OESOPHAGUS	110384057	110384800	110384794	110384794	Missense_Mutation	A	G	p.I291V
LXF289_LUNG	110394160	110394342	110394169	110394169	Missense_Mutation	C	T	p.S296F
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	110394160	110394342	110394247	110394247	Missense_Mutation	C	T	p.S322L
JHH2_LIVER	110394160	110394342	110394259	110394259	Missense_Mutation	C	T	p.S326L
NCIH2342_LUNG	110394160	110394342	110394265	110394265	Missense_Mutation	G	C	p.R328T
SNU466_CENTRAL_NERVOUS_SYSTEM	110394160	110394342	110394282	110394282	Missense_Mutation	A	C	p.N334H
HO1N1_UPPER_AERODIGESTIVE_TRACT	110394160	110394342	110394282	110394282	Missense_Mutation	A	C	p.N334H
AN3CA_ENDOMETRIUM	110402833	110402937	110402859	110402859	Missense_Mutation	A	G	p.N363D
IM9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	110402833	110402937	110402913	110402913	Missense_Mutation	G	A	p.E381K
KYSE410_OESOPHAGUS	110412483	110412563	110412519	110412519	Missense_Mutation	C	T	p.P401L
A704_KIDNEY	110412483	110412563	110412524	110412524	Missense_Mutation	C	A	p.P403T
IGR1_SKIN	110427487	110427668	110427509	110427509	Missense_Mutation	C	T	p.S505F
IGR1_SKIN	110427484	110427668	110427509	110427509	Missense_Mutation	C	T	p.S505F
MEWO_SKIN	110427487	110427668	110427566	110427566	Missense_Mutation	C	T	p.P524L
MEWO_SKIN	110427484	110427668	110427566	110427566	Missense_Mutation	C	T	p.P524L
IGROV1_OVARY	110427487	110427668	110427569	110427569	Missense_Mutation	T	C	p.V525A
IGROV1_OVARY	110427484	110427668	110427569	110427569	Missense_Mutation	T	C	p.V525A
BT12_SOFT_TISSUE	110427487	110427668	110427633	110427633	Missense_Mutation	G	T	p.L546F
BT12_SOFT_TISSUE	110427484	110427668	110427633	110427633	Missense_Mutation	G	T	p.L546F
LB2518EBV_MATCHED_NORMAL_TISSUE	110427487	110427668	110427640	110427640	Missense_Mutation	G	A	p.D549N
LB2518EBV_MATCHED_NORMAL_TISSUE	110427484	110427668	110427640	110427640	Missense_Mutation	G	A	p.D549N
HEC108_ENDOMETRIUM	110442576	110442782	110442693	110442693	Missense_Mutation	C	T	p.R807C
HCC202_BREAST	110442576	110442782	110442775	110442775	Missense_Mutation	G	A	p.S834N
RERFLCAD1_LUNG	110442576	110442782	110442775	110442775	Missense_Mutation	G	A	p.S834N
BICR22_UPPER_AERODIGESTIVE_TRACT	110448478	110448588	110448579	110448579	Missense_Mutation	G	A	p.A1023T
SW48_LARGE_INTESTINE	110448478	110448588	110448583	110448583	Missense_Mutation	A	G	p.N1024S
NCIH1563_LUNG	110451445	110451620	110451460	110451460	Missense_Mutation	T	G	p.V1031G
HS688AT_FIBROBLAST	110451445	110451620	110451519	110451519	Missense_Mutation	T	A	p.S1051T
NCIH647_LUNG	110451445	110451620	110451568	110451568	Missense_Mutation	C	T	p.A1067V
SNU1040_LARGE_INTESTINE	110451445	110451620	110451568	110451568	Missense_Mutation	C	T	p.A1067V
HEC59_ENDOMETRIUM	110452541	110452678	110452580	110452580	Missense_Mutation	C	T	p.R1098C
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	110452541	110452678	110452584	110452584	Missense_Mutation	T	C	p.V1099A
KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	110452541	110452678	110452603	110452603	Missense_Mutation	A	G	p.I1105M
SW156_KIDNEY	110452541	110452678	110452622	110452622	Missense_Mutation	C	T	p.H1112Y
NCC021_KIDNEY	110459649	110459752	110459665	110459665	Missense_Mutation	T	A	p.L1202Q
NCIH2196_LUNG	110459649	110459752	110459667	110459667	Missense_Mutation	G	C	p.D1203H
MDAMB361_BREAST	110459649	110459752	110459748	110459748	Missense_Mutation	G	A	p.V1230I
HT115_LARGE_INTESTINE	110384057	110384800	110384162	110384162	Nonsense_Mutation	C	A	p.S80*
HCC2998_LARGE_INTESTINE	110442576	110442782	110442772	110442772	Nonsense_Mutation	C	A	p.S833*
SNU1040_LARGE_INTESTINE	110402833	110402937	110402834	110402834	Splice_Site	C	T	p.G354G
IPC298_SKIN	110412483	110412563	110412484	110412484	Splice_Site	T	C	p.G389G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SEC24B

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_425612	4	110354970:110355158:110384056:110384800:110394159:110394342	110384056:110384800	ENST00000265175.5,ENST00000399100.2	LUAD	rs33911248	chr4:110384790	A/G	2.77e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SEC24B

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SEC24B

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RelatedDrugs for SEC24B

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 SEC24B

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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