ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MCTP2

Gene summary

Gene information	Gene symbol	MCTP2
	Gene ID	55784
	Gene name	multiple C2 and transmembrane domain containing 2
	Synonyms	-
	Cytomap	15q26.2
	Type of gene	protein-coding
	Description	multiple C2 and transmembrane domain-containing protein 2multiple C2 domains, transmembrane 2multiple C2-domains with two transmembrane regions 2 1
	Modification date	20180523
	UniProtAcc	Q6DN12
	Context	PubMed: MCTP2 [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 MCTP2 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 MCTP2

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 MCTP2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_125170	15	94774800:94774893:94821382:94821492:94841429:94841959	94821382:94821492	ENSG00000140563.10	ENST00000561608.1
exon_skip_125175	15	94857510:94857573:94857955:94858093:94858757:94858866	94857955:94858093	ENSG00000140563.10	ENST00000456504.1
exon_skip_125176	15	94884041:94884153:94888357:94888393:94899365:94899530	94888357:94888393	ENSG00000140563.10	ENST00000456504.1,ENST00000451018.3,ENST00000331706.4,ENST00000543482.1,ENST00000357742.4
exon_skip_125177	15	94899365:94899530:94901710:94901841:94910833:94911020	94901710:94901841	ENSG00000140563.10	ENST00000456504.1,ENST00000451018.3,ENST00000331706.4,ENST00000357742.4
exon_skip_125178	15	94899365:94899530:94901775:94901841:94910833:94911020	94901775:94901841	ENSG00000140563.10	ENST00000557742.1
exon_skip_125182	15	94945128:94945248:94983404:94983527:94986147:94986189	94983404:94983527	ENSG00000140563.10	ENST00000456504.1,ENST00000357742.4
exon_skip_125186	15	94945128:94945248:95001365:95001475:95013561:95013671	95001365:95001475	ENSG00000140563.10	ENST00000451018.3
exon_skip_125187	15	94983404:94983527:94986147:94986189:95001365:95001475	94986147:94986189	ENSG00000140563.10	ENST00000456504.1,ENST00000357742.4
exon_skip_125189	15	94986147:94986189:95001365:95001475:95013561:95013671	95001365:95001475	ENSG00000140563.10	ENST00000456504.1,ENST00000357742.4
exon_skip_125190	15	95001365:95001475:95013561:95013671:95019924:95020022	95013561:95013671	ENSG00000140563.10	ENST00000456504.1,ENST00000451018.3,ENST00000357742.4
exon_skip_125192	15	95013561:95013671:95019924:95020022:95022194:95022263	95019924:95020022	ENSG00000140563.10	ENST00000456504.1,ENST00000451018.3,ENST00000357742.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MCTP2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_125170	15	94774800:94774893:94821382:94821492:94841429:94841959	94821382:94821492	ENSG00000140563.10	ENST00000561608.1
exon_skip_125175	15	94857510:94857573:94857955:94858093:94858757:94858866	94857955:94858093	ENSG00000140563.10	ENST00000456504.1
exon_skip_125176	15	94884041:94884153:94888357:94888393:94899365:94899530	94888357:94888393	ENSG00000140563.10	ENST00000543482.1,ENST00000456504.1,ENST00000331706.4,ENST00000451018.3,ENST00000357742.4
exon_skip_125177	15	94899365:94899530:94901710:94901841:94910833:94911020	94901710:94901841	ENSG00000140563.10	ENST00000456504.1,ENST00000331706.4,ENST00000451018.3,ENST00000357742.4
exon_skip_125178	15	94899365:94899530:94901775:94901841:94910833:94911020	94901775:94901841	ENSG00000140563.10	ENST00000557742.1
exon_skip_125182	15	94945128:94945248:94983404:94983527:94986147:94986189	94983404:94983527	ENSG00000140563.10	ENST00000456504.1,ENST00000357742.4
exon_skip_125186	15	94945128:94945248:95001365:95001475:95013561:95013671	95001365:95001475	ENSG00000140563.10	ENST00000451018.3
exon_skip_125187	15	94983404:94983527:94986147:94986189:95001365:95001475	94986147:94986189	ENSG00000140563.10	ENST00000456504.1,ENST00000357742.4
exon_skip_125189	15	94986147:94986189:95001365:95001475:95013561:95013671	95001365:95001475	ENSG00000140563.10	ENST00000456504.1,ENST00000357742.4
exon_skip_125192	15	95013561:95013671:95019924:95020022:95022194:95022263	95019924:95020022	ENSG00000140563.10	ENST00000456504.1,ENST00000451018.3,ENST00000357742.4

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 MCTP2

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
ENST00000357742	94901710	94901841	Frame-shift
ENST00000357742	95001365	95001475	Frame-shift
ENST00000357742	95013561	95013671	Frame-shift
ENST00000357742	95019924	95020022	Frame-shift
ENST00000357742	94888357	94888393	In-frame
ENST00000357742	94983404	94983527	In-frame
ENST00000357742	94986147	94986189	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
ENST00000357742	94901710	94901841	Frame-shift
ENST00000357742	95001365	95001475	Frame-shift
ENST00000357742	95019924	95020022	Frame-shift
ENST00000357742	94888357	94888393	In-frame
ENST00000357742	94983404	94983527	In-frame
ENST00000357742	94986147	94986189	In-frame

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Infer the effects of exon skipping event on protein functional features for MCTP2

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
ENST00000357742	3982	878	94888357	94888393	970	1005	323	335
ENST00000357742	3982	878	94983404	94983527	2086	2208	695	736
ENST00000357742	3982	878	94986147	94986189	2209	2250	736	750

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
ENST00000357742	3982	878	94888357	94888393	970	1005	323	335
ENST00000357742	3982	878	94983404	94983527	2086	2208	695	736
ENST00000357742	3982	878	94986147	94986189	2209	2250	736	750

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
Q6DN12	323	335	1	412	Alternative sequence	ID=VSP_026662;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q6DN12	323	335	200	878	Alternative sequence	ID=VSP_038982;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6DN12	323	335	1	878	Chain	ID=PRO_0000294472;Note=Multiple C2 and transmembrane domain-containing protein 2
Q6DN12	695	736	200	878	Alternative sequence	ID=VSP_038982;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6DN12	695	736	696	750	Alternative sequence	ID=VSP_026664;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6DN12	695	736	696	718	Alternative sequence	ID=VSP_026665;Note=In isoform 4. VFLITVWNFELYMIPLALLLIFV->HRKEEPPLSMKCTLFSGDIGPSL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6DN12	695	736	719	878	Alternative sequence	ID=VSP_026666;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6DN12	695	736	1	878	Chain	ID=PRO_0000294472;Note=Multiple C2 and transmembrane domain-containing protein 2
Q6DN12	695	736	695	695	Natural variant	ID=VAR_073427;Note=Found in a patient with left-sided obstructive cardiac lesions%3B unknown pathological significance. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23773997;Dbxref=dbSNP:rs370153540,PMID:23773997
Q6DN12	695	736	697	717	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6DN12	736	750	200	878	Alternative sequence	ID=VSP_038982;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6DN12	736	750	696	750	Alternative sequence	ID=VSP_026664;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6DN12	736	750	719	878	Alternative sequence	ID=VSP_026666;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6DN12	736	750	1	878	Chain	ID=PRO_0000294472;Note=Multiple C2 and transmembrane domain-containing protein 2

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
Q6DN12	323	335	1	412	Alternative sequence	ID=VSP_026662;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q6DN12	323	335	200	878	Alternative sequence	ID=VSP_038982;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6DN12	323	335	1	878	Chain	ID=PRO_0000294472;Note=Multiple C2 and transmembrane domain-containing protein 2
Q6DN12	695	736	200	878	Alternative sequence	ID=VSP_038982;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6DN12	695	736	696	750	Alternative sequence	ID=VSP_026664;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6DN12	695	736	696	718	Alternative sequence	ID=VSP_026665;Note=In isoform 4. VFLITVWNFELYMIPLALLLIFV->HRKEEPPLSMKCTLFSGDIGPSL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6DN12	695	736	719	878	Alternative sequence	ID=VSP_026666;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6DN12	695	736	1	878	Chain	ID=PRO_0000294472;Note=Multiple C2 and transmembrane domain-containing protein 2
Q6DN12	695	736	695	695	Natural variant	ID=VAR_073427;Note=Found in a patient with left-sided obstructive cardiac lesions%3B unknown pathological significance. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23773997;Dbxref=dbSNP:rs370153540,PMID:23773997
Q6DN12	695	736	697	717	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6DN12	736	750	200	878	Alternative sequence	ID=VSP_038982;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6DN12	736	750	696	750	Alternative sequence	ID=VSP_026664;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6DN12	736	750	719	878	Alternative sequence	ID=VSP_026666;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6DN12	736	750	1	878	Chain	ID=PRO_0000294472;Note=Multiple C2 and transmembrane domain-containing protein 2

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SNVs in the skipped exons for MCTP2

- 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.

MCTP2_SKCM_exon_skip_125176_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-A1EG-01	exon_skip_125182	94983405	94983527	94983428	94983428	Frame_Shift_Del	T	-	p.N703fs
LIHC	TCGA-DD-A39Y-01	exon_skip_125182	94983405	94983527	94983495	94983495	Frame_Shift_Del	A	-	p.K726fs
KIRP	TCGA-5P-A9KH-01	exon_skip_125189 exon_skip_125186	95001366	95001475	95001475	95001477	Frame_Shift_Del	AGT	-	p.787_787del
KIRC	TCGA-B8-4154-01	exon_skip_125190	95013562	95013671	95013580	95013580	Frame_Shift_Del	C	-	p.V793fs
LIHC	TCGA-DD-A1EG-01	exon_skip_125190	95013562	95013671	95013588	95013588	Frame_Shift_Del	T	-	p.L796fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_125190	95013562	95013671	95013660	95013660	Frame_Shift_Del	T	-	p.I820fs
STAD	TCGA-BR-8382-01	exon_skip_125178 exon_skip_125177	94901711	94901841	94901801	94901802	Frame_Shift_Ins	-	G	p.W421fs
STAD	TCGA-BR-8382-01	exon_skip_125178 exon_skip_125177	94901776	94901841	94901801	94901802	Frame_Shift_Ins	-	G	p.W421fs
STAD	TCGA-BR-8382-01	exon_skip_125178 exon_skip_125177	94901711	94901841	94901802	94901803	Frame_Shift_Ins	-	G	p.W421fs
STAD	TCGA-BR-8382-01	exon_skip_125178 exon_skip_125177	94901776	94901841	94901802	94901803	Frame_Shift_Ins	-	G	p.W421fs
LIHC	TCGA-BC-A112-01	exon_skip_125189 exon_skip_125186	95001366	95001475	95001379	95001380	Frame_Shift_Ins	-	G	p.R755fs
SKCM	TCGA-EE-A181-06	exon_skip_125182	94983405	94983527	94983425	94983425	Nonsense_Mutation	G	A	p.W702*
SKCM	TCGA-EE-A181-06	exon_skip_125182	94983405	94983527	94983425	94983425	Nonsense_Mutation	G	A	p.W702X
COAD	TCGA-AZ-4315-01	exon_skip_125192	95019925	95020022	95019951	95019951	Nonsense_Mutation	C	T	p.R778X
SKCM	TCGA-FW-A3R5-06	exon_skip_125176	94888358	94888393	94888394	94888394	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-FW-A3R5-06
	Cancer type: SKCM
	ESID: exon_skip_125176
	Skipped exon start: 94888358
	Skipped exon end: 94888393
	Mutation start: 94888394
	Mutation end: 94888394
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: .
exon_skip_104729_SKCM_TCGA-FW-A3R5-06.png
exon_skip_108215_SKCM_TCGA-FW-A3R5-06.png
exon_skip_109629_SKCM_TCGA-FW-A3R5-06.png
exon_skip_109632_SKCM_TCGA-FW-A3R5-06.png
exon_skip_109646_SKCM_TCGA-FW-A3R5-06.png
exon_skip_125176_SKCM_TCGA-FW-A3R5-06.png
exon_skip_285563_SKCM_TCGA-FW-A3R5-06.png
exon_skip_285564_SKCM_TCGA-FW-A3R5-06.png
exon_skip_301134_SKCM_TCGA-FW-A3R5-06.png
exon_skip_305744_SKCM_TCGA-FW-A3R5-06.png
exon_skip_311969_SKCM_TCGA-FW-A3R5-06.png
exon_skip_333572_SKCM_TCGA-FW-A3R5-06.png
exon_skip_340640_SKCM_TCGA-FW-A3R5-06.png
exon_skip_361593_SKCM_TCGA-FW-A3R5-06.png
exon_skip_432257_SKCM_TCGA-FW-A3R5-06.png
exon_skip_433410_SKCM_TCGA-FW-A3R5-06.png
exon_skip_456052_SKCM_TCGA-FW-A3R5-06.png
exon_skip_457524_SKCM_TCGA-FW-A3R5-06.png
exon_skip_58343_SKCM_TCGA-FW-A3R5-06.png
exon_skip_96282_SKCM_TCGA-FW-A3R5-06.png
exon_skip_96283_SKCM_TCGA-FW-A3R5-06.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
SKMEL24_SKIN	94901711	94901841	94901744	94901744	Missense_Mutation	G	A	p.E402K
BICR18_UPPER_AERODIGESTIVE_TRACT	94901776	94901841	94901814	94901814	Missense_Mutation	A	G	p.N425S
BICR18_UPPER_AERODIGESTIVE_TRACT	94901711	94901841	94901814	94901814	Missense_Mutation	A	G	p.N425S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	94901776	94901841	94901814	94901814	Missense_Mutation	A	G	p.N425S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	94901711	94901841	94901814	94901814	Missense_Mutation	A	G	p.N425S
CAS1_CENTRAL_NERVOUS_SYSTEM	94901776	94901841	94901832	94901832	Missense_Mutation	G	A	p.R431H
CAS1_CENTRAL_NERVOUS_SYSTEM	94901711	94901841	94901832	94901832	Missense_Mutation	G	A	p.R431H
NCIH1703_LUNG	94983405	94983527	94983420	94983420	Missense_Mutation	G	C	p.V701L
A375_SKIN	94986148	94986189	94986150	94986150	Missense_Mutation	G	T	p.E737D
ONS76_CENTRAL_NERVOUS_SYSTEM	94986148	94986189	94986160	94986160	Missense_Mutation	A	G	p.I741V
LS411N_LARGE_INTESTINE	95001366	95001475	95001379	95001379	Missense_Mutation	A	G	p.K755R
HT3_CERVIX	95001366	95001475	95001386	95001386	Missense_Mutation	G	C	p.L757F
LC2AD_LUNG	95001366	95001475	95001429	95001429	Missense_Mutation	C	G	p.Q772E
SNU81_LARGE_INTESTINE	95001366	95001475	95001454	95001454	Missense_Mutation	C	A	p.S780Y
NCIH1573_LUNG	95001366	95001475	95001463	95001463	Missense_Mutation	A	T	p.E783V
SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	95013562	95013671	95013594	95013594	Missense_Mutation	C	A	p.S798Y
HCT15_LARGE_INTESTINE	95013562	95013671	95013621	95013621	Missense_Mutation	C	T	p.A807V
MKN74_STOMACH	95013562	95013671	95013644	95013644	Missense_Mutation	C	A	p.P815T
MKN28_STOMACH	95013562	95013671	95013644	95013644	Missense_Mutation	C	A	p.P815T
SF268_CENTRAL_NERVOUS_SYSTEM	95019925	95020022	95019932	95019932	Missense_Mutation	T	A	p.N826K
JHUEM7_ENDOMETRIUM	95019925	95020022	95019937	95019937	Missense_Mutation	T	G	p.F828C
HEC1A_ENDOMETRIUM	95019925	95020022	95019940	95019940	Missense_Mutation	C	A	p.T829N
SKN_ENDOMETRIUM	95019925	95020022	95019952	95019952	Missense_Mutation	G	A	p.R833Q
JHUEM7_ENDOMETRIUM	95019925	95020022	95019952	95019952	Missense_Mutation	G	A	p.R833Q
NO10_CENTRAL_NERVOUS_SYSTEM	95019925	95020022	95020009	95020009	Missense_Mutation	C	A	p.S852Y
SKOV3_OVARY	94901711	94901841	94901741	94901741	Nonsense_Mutation	C	T	p.Q401*
HCT116_LARGE_INTESTINE	94888358	94888393	94888358	94888358	Splice_Site	C	T	p.R324C

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MCTP2

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 MCTP2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MCTP2

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RelatedDrugs for MCTP2

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 MCTP2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MCTP2	C0036341	Schizophrenia	1	PSYGENET
MCTP2	C0041696	Unipolar Depression	1	PSYGENET
MCTP2	C1269683	Major Depressive Disorder	1	PSYGENET

	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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