ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MEGF8

Gene summary

Gene information	Gene symbol	MEGF8
	Gene ID	1954
	Gene name	multiple EGF like domains 8
	Synonyms	C19orf49\|CRPT2\|EGFL4\|SBP1
	Cytomap	19q13.2
	Type of gene	protein-coding
	Description	multiple epidermal growth factor-like domains protein 8EGF-like domain-containing protein 4EGF-like-domain, multiple 4HBV pre-S2-binding protein 1HBV pre-s2 binding protein 1epidermal growth factor-like protein 4hepatitis B virus pre-S2-binding prot
	Modification date	20180519
	UniProtAcc	Q7Z7M0
	Context	PubMed: MEGF8 [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 MEGF8 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 MEGF8

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 MEGF8

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_307715	19	42837756:42837920:42838158:42838365:42839186:42839367	42838158:42838365	ENSG00000105429.8	ENST00000251268.6,ENST00000334370.4
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENSG00000105429.8	ENST00000251268.6
exon_skip_307721	19	42852440:42852624:42853650:42853851:42854299:42854536	42853650:42853851	ENSG00000105429.8	ENST00000251268.6
exon_skip_307722	19	42853650:42853851:42854299:42854536:42855367:42855486	42854299:42854536	ENSG00000105429.8	ENST00000251268.6,ENST00000334370.4
exon_skip_307723	19	42862295:42862459:42862938:42863106:42863249:42863394	42862938:42863106	ENSG00000105429.8	ENST00000251268.6,ENST00000334370.4
exon_skip_307725	19	42863249:42863394:42864926:42865158:42866241:42866365	42864926:42865158	ENSG00000105429.8	ENST00000251268.6,ENST00000334370.4
exon_skip_307727	19	42872994:42873154:42873682:42873875:42874340:42874511	42873682:42873875	ENSG00000105429.8	ENST00000251268.6,ENST00000334370.4
exon_skip_307729	19	42874852:42874983:42875501:42875634:42879658:42879925	42875501:42875634	ENSG00000105429.8	ENST00000251268.6,ENST00000334370.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MEGF8

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_307715	19	42837756:42837920:42838158:42838365:42839186:42839367	42838158:42838365	ENSG00000105429.8	ENST00000334370.4,ENST00000251268.6
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENSG00000105429.8	ENST00000251268.6
exon_skip_307720	19	42848821:42848985:42853650:42853851:42854299:42854536	42853650:42853851	ENSG00000105429.8	ENST00000334370.4
exon_skip_307721	19	42852440:42852624:42853650:42853851:42854299:42854536	42853650:42853851	ENSG00000105429.8	ENST00000251268.6
exon_skip_307722	19	42853650:42853851:42854299:42854536:42855367:42855486	42854299:42854536	ENSG00000105429.8	ENST00000334370.4,ENST00000251268.6
exon_skip_307723	19	42862295:42862459:42862938:42863106:42863249:42863394	42862938:42863106	ENSG00000105429.8	ENST00000334370.4,ENST00000251268.6
exon_skip_307725	19	42863249:42863394:42864926:42865158:42866241:42866365	42864926:42865158	ENSG00000105429.8	ENST00000334370.4,ENST00000251268.6
exon_skip_307727	19	42872994:42873154:42873682:42873875:42874340:42874511	42873682:42873875	ENSG00000105429.8	ENST00000334370.4,ENST00000251268.6
exon_skip_307729	19	42874852:42874983:42875501:42875634:42879658:42879925	42875501:42875634	ENSG00000105429.8	ENST00000334370.4,ENST00000251268.6

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 MEGF8

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
ENST00000251268	42864926	42865158	Frame-shift
ENST00000251268	42873682	42873875	Frame-shift
ENST00000251268	42875501	42875634	Frame-shift
ENST00000251268	42838158	42838365	In-frame
ENST00000251268	42852423	42852624	In-frame
ENST00000251268	42853650	42853851	In-frame
ENST00000251268	42854299	42854536	In-frame
ENST00000251268	42862938	42863106	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
ENST00000251268	42864926	42865158	Frame-shift
ENST00000251268	42873682	42873875	Frame-shift
ENST00000251268	42875501	42875634	Frame-shift
ENST00000251268	42838158	42838365	In-frame
ENST00000251268	42852423	42852624	In-frame
ENST00000251268	42853650	42853851	In-frame
ENST00000251268	42854299	42854536	In-frame
ENST00000251268	42862938	42863106	In-frame

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Infer the effects of exon skipping event on protein functional features for MEGF8

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
ENST00000251268	9566	2845	42838158	42838365	352	558	117	186
ENST00000251268	9566	2845	42852423	42852624	2098	2298	699	766
ENST00000251268	9566	2845	42853650	42853851	2299	2499	766	833
ENST00000251268	9566	2845	42854299	42854536	2500	2736	833	912
ENST00000251268	9566	2845	42862938	42863106	5176	5343	1725	1781

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
ENST00000251268	9566	2845	42838158	42838365	352	558	117	186
ENST00000251268	9566	2845	42852423	42852624	2098	2298	699	766
ENST00000251268	9566	2845	42853650	42853851	2299	2499	766	833
ENST00000251268	9566	2845	42854299	42854536	2500	2736	833	912
ENST00000251268	9566	2845	42862938	42863106	5176	5343	1725	1781

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
Q7Z7M0	117	186	28	2845	Chain	ID=PRO_0000055629;Note=Multiple epidermal growth factor-like domains protein 8
Q7Z7M0	117	186	142	152	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q7Z7M0	117	186	146	158	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q7Z7M0	117	186	174	184	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q7Z7M0	117	186	178	191	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q7Z7M0	117	186	30	140	Domain	Note=CUB 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00059
Q7Z7M0	117	186	138	168	Domain	Note=EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q7Z7M0	117	186	170	203	Domain	Note=EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q7Z7M0	117	186	28	2647	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q7Z7M0	699	766	700	766	Alternative sequence	ID=VSP_036067;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9693030;Dbxref=PMID:15489334,PMID:9693030
Q7Z7M0	699	766	28	2845	Chain	ID=PRO_0000055629;Note=Multiple epidermal growth factor-like domains protein 8
Q7Z7M0	699	766	28	2647	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q7Z7M0	766	833	700	766	Alternative sequence	ID=VSP_036067;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9693030;Dbxref=PMID:15489334,PMID:9693030
Q7Z7M0	766	833	28	2845	Chain	ID=PRO_0000055629;Note=Multiple epidermal growth factor-like domains protein 8
Q7Z7M0	766	833	28	2647	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q7Z7M0	833	912	28	2845	Chain	ID=PRO_0000055629;Note=Multiple epidermal growth factor-like domains protein 8
Q7Z7M0	833	912	847	899	Domain	Note=PSI 2
Q7Z7M0	833	912	900	947	Domain	Note=PSI 3
Q7Z7M0	833	912	28	2647	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q7Z7M0	1725	1781	28	2845	Chain	ID=PRO_0000055629;Note=Multiple epidermal growth factor-like domains protein 8
Q7Z7M0	1725	1781	1685	1735	Repeat	Note=Kelch 10
Q7Z7M0	1725	1781	28	2647	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q7Z7M0	117	186	28	2845	Chain	ID=PRO_0000055629;Note=Multiple epidermal growth factor-like domains protein 8
Q7Z7M0	117	186	142	152	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q7Z7M0	117	186	146	158	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q7Z7M0	117	186	174	184	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q7Z7M0	117	186	178	191	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q7Z7M0	117	186	30	140	Domain	Note=CUB 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00059
Q7Z7M0	117	186	138	168	Domain	Note=EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q7Z7M0	117	186	170	203	Domain	Note=EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q7Z7M0	117	186	28	2647	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q7Z7M0	699	766	700	766	Alternative sequence	ID=VSP_036067;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9693030;Dbxref=PMID:15489334,PMID:9693030
Q7Z7M0	699	766	28	2845	Chain	ID=PRO_0000055629;Note=Multiple epidermal growth factor-like domains protein 8
Q7Z7M0	699	766	28	2647	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q7Z7M0	766	833	700	766	Alternative sequence	ID=VSP_036067;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9693030;Dbxref=PMID:15489334,PMID:9693030
Q7Z7M0	766	833	28	2845	Chain	ID=PRO_0000055629;Note=Multiple epidermal growth factor-like domains protein 8
Q7Z7M0	766	833	28	2647	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q7Z7M0	833	912	28	2845	Chain	ID=PRO_0000055629;Note=Multiple epidermal growth factor-like domains protein 8
Q7Z7M0	833	912	847	899	Domain	Note=PSI 2
Q7Z7M0	833	912	900	947	Domain	Note=PSI 3
Q7Z7M0	833	912	28	2647	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q7Z7M0	1725	1781	28	2845	Chain	ID=PRO_0000055629;Note=Multiple epidermal growth factor-like domains protein 8
Q7Z7M0	1725	1781	1685	1735	Repeat	Note=Kelch 10
Q7Z7M0	1725	1781	28	2647	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for MEGF8

- 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.

MEGF8_PAAD_exon_skip_307723_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
ACC	TCGA-PK-A5HB-01	exon_skip_307715	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
COAD	TCGA-CM-5861-01	exon_skip_307715	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
ESCA	TCGA-Z6-A8JD-01	exon_skip_307715	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.G166fs
LUAD	TCGA-55-8506-01	exon_skip_307715	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
MESO	TCGA-UD-AAC1-01	exon_skip_307715	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
STAD	TCGA-BR-4362-01	exon_skip_307715	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
STAD	TCGA-BR-6566-01	exon_skip_307715	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
LIHC	TCGA-DD-A3A0-01	exon_skip_307723	42862939	42863106	42863012	42863012	Frame_Shift_Del	G	-	p.W1683fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_307725	42864927	42865158	42864940	42864940	Frame_Shift_Del	G	-	p.V1767fs
COAD	TCGA-AZ-6598-01	exon_skip_307715	42838159	42838365	42838297	42838298	Frame_Shift_Ins	-	G	p.W164fs
UCEC	TCGA-B5-A0JR-01	exon_skip_307715	42838159	42838365	42838297	42838298	Frame_Shift_Ins	-	G	p.W164fs
BLCA	TCGA-UY-A9PE-01	exon_skip_307721	42853651	42853851	42853768	42853768	Nonsense_Mutation	C	T	p.Q739*
SKCM	TCGA-FW-A3R5-06	exon_skip_307721	42853651	42853851	42853768	42853768	Nonsense_Mutation	C	T	p.Q739*
PAAD	TCGA-IB-7651-01	exon_skip_307723	42862939	42863106	42863068	42863068	Nonsense_Mutation	G	T	p.G1702*
PAAD	TCGA-IB-7651-01	exon_skip_307723	42862939	42863106	42863068	42863068	Nonsense_Mutation	G	T	p.G1769*
PAAD	TCGA-IB-7651-01	exon_skip_307723	42862939	42863106	42863068	42863068	Nonsense_Mutation	G	T	p.G1769X
BRCA	TCGA-AR-A24X-01	exon_skip_307729	42875502	42875634	42875614	42875614	Nonsense_Mutation	C	T	p.R2350*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-IB-7651-01
	Cancer type: PAAD
	ESID: exon_skip_307723
	Skipped exon start: 42862939
	Skipped exon end: 42863106
	Mutation start: 42863068
	Mutation end: 42863068
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.G1769X
	Sample: TCGA-IB-7651-01
	Cancer type: PAAD
	ESID: exon_skip_307723
	Skipped exon start: 42862939
	Skipped exon end: 42863106
	Mutation start: 42863068
	Mutation end: 42863068
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.G1702*
	Sample: TCGA-IB-7651-01
	Cancer type: PAAD
	ESID: exon_skip_307723
	Skipped exon start: 42862939
	Skipped exon end: 42863106
	Mutation start: 42863068
	Mutation end: 42863068
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.G1769*
exon_skip_113241_PAAD_TCGA-IB-7651-01.png
exon_skip_115380_PAAD_TCGA-IB-7651-01.png
exon_skip_124564_PAAD_TCGA-IB-7651-01.png
exon_skip_135806_PAAD_TCGA-IB-7651-01.png
exon_skip_139341_PAAD_TCGA-IB-7651-01.png
exon_skip_153733_PAAD_TCGA-IB-7651-01.png
exon_skip_155805_PAAD_TCGA-IB-7651-01.png
exon_skip_18053_PAAD_TCGA-IB-7651-01.png
exon_skip_18056_PAAD_TCGA-IB-7651-01.png
exon_skip_23067_PAAD_TCGA-IB-7651-01.png
exon_skip_287059_PAAD_TCGA-IB-7651-01.png
exon_skip_294631_PAAD_TCGA-IB-7651-01.png
exon_skip_298512_PAAD_TCGA-IB-7651-01.png
exon_skip_306900_PAAD_TCGA-IB-7651-01.png
exon_skip_307723_PAAD_TCGA-IB-7651-01.png
exon_skip_315960_PAAD_TCGA-IB-7651-01.png
exon_skip_324675_PAAD_TCGA-IB-7651-01.png
exon_skip_330351_PAAD_TCGA-IB-7651-01.png
exon_skip_334330_PAAD_TCGA-IB-7651-01.png
exon_skip_341784_PAAD_TCGA-IB-7651-01.png
exon_skip_343314_PAAD_TCGA-IB-7651-01.png
exon_skip_348329_PAAD_TCGA-IB-7651-01.png
exon_skip_354232_PAAD_TCGA-IB-7651-01.png
exon_skip_370626_PAAD_TCGA-IB-7651-01.png
exon_skip_377740_PAAD_TCGA-IB-7651-01.png
exon_skip_385032_PAAD_TCGA-IB-7651-01.png
exon_skip_390031_PAAD_TCGA-IB-7651-01.png
exon_skip_422548_PAAD_TCGA-IB-7651-01.png
exon_skip_424536_PAAD_TCGA-IB-7651-01.png
exon_skip_431753_PAAD_TCGA-IB-7651-01.png
exon_skip_432982_PAAD_TCGA-IB-7651-01.png
exon_skip_435489_PAAD_TCGA-IB-7651-01.png
exon_skip_435729_PAAD_TCGA-IB-7651-01.png
exon_skip_441705_PAAD_TCGA-IB-7651-01.png
exon_skip_448879_PAAD_TCGA-IB-7651-01.png
exon_skip_468347_PAAD_TCGA-IB-7651-01.png
exon_skip_494000_PAAD_TCGA-IB-7651-01.png
exon_skip_494029_PAAD_TCGA-IB-7651-01.png
exon_skip_499410_PAAD_TCGA-IB-7651-01.png
exon_skip_499695_PAAD_TCGA-IB-7651-01.png
exon_skip_499697_PAAD_TCGA-IB-7651-01.png
exon_skip_79905_PAAD_TCGA-IB-7651-01.png
exon_skip_80096_PAAD_TCGA-IB-7651-01.png
exon_skip_95924_PAAD_TCGA-IB-7651-01.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
EGI1_BILIARY_TRACT	42838159	42838365	42838289	42838289	Frame_Shift_Del	A	-	p.E161fs
C33A_CERVIX	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
HEC265_ENDOMETRIUM	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
SNU349_KIDNEY	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
2313287_STOMACH	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
CCK81_LARGE_INTESTINE	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
SKUT1_SOFT_TISSUE	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
CW2_LARGE_INTESTINE	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
EN_ENDOMETRIUM	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42838159	42838365	42838298	42838298	Frame_Shift_Del	G	-	p.W164fs
AN3CA_ENDOMETRIUM	42838159	42838365	42838298	42838299	Frame_Shift_Del	GG	-	p.W164fs
AN3CA_ENDOMETRIUM	42838159	42838365	42838299	42838299	Frame_Shift_Del	G	-	p.W164fs
L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42838159	42838365	42838218	42838218	Missense_Mutation	C	A	p.F137L
CHLA06ATRT_SOFT_TISSUE	42838159	42838365	42838292	42838292	Missense_Mutation	C	T	p.P162L
CHAGOK1_LUNG	42852424	42852624	42852428	42852428	Missense_Mutation	C	T	p.S701L
MS1_LUNG	42852424	42852624	42852437	42852437	Missense_Mutation	G	A	p.R704H
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42852424	42852624	42852469	42852469	Missense_Mutation	G	A	p.E715K
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42852424	42852624	42852563	42852563	Missense_Mutation	C	T	p.T746M
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42852424	42852624	42852608	42852608	Missense_Mutation	C	A	p.P761H
BICR18_UPPER_AERODIGESTIVE_TRACT	42854300	42854536	42854339	42854339	Missense_Mutation	T	G	p.S847A
NCIH2591_PLEURA	42854300	42854536	42854340	42854340	Missense_Mutation	C	A	p.S847Y
SNU1040_LARGE_INTESTINE	42854300	42854536	42854340	42854340	Missense_Mutation	C	T	p.S847F
RKO_LARGE_INTESTINE	42854300	42854536	42854424	42854424	Missense_Mutation	G	A	p.R875H
WM88_SKIN	42862939	42863106	42862945	42862945	Missense_Mutation	C	T	p.R1728C
KS1_CENTRAL_NERVOUS_SYSTEM	42862939	42863106	42862997	42862997	Missense_Mutation	A	G	p.E1745G
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42862939	42863106	42863021	42863021	Missense_Mutation	G	A	p.R1753Q
SNU1040_LARGE_INTESTINE	42862939	42863106	42863021	42863021	Missense_Mutation	G	A	p.R1753Q
SW13_ADRENAL_CORTEX	42864927	42865158	42865071	42865071	Missense_Mutation	G	A	p.R1878H
HS746T_STOMACH	42873683	42873875	42873690	42873690	Missense_Mutation	G	T	p.G2217W
NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42873683	42873875	42873699	42873699	Missense_Mutation	C	T	p.R2220C
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42873683	42873875	42873781	42873781	Missense_Mutation	G	A	p.R2247H
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42873683	42873875	42873793	42873793	Missense_Mutation	C	T	p.T2251M
SNGM_ENDOMETRIUM	42873683	42873875	42873793	42873793	Missense_Mutation	C	T	p.T2251M
GP2D_LARGE_INTESTINE	42873683	42873875	42873801	42873801	Missense_Mutation	C	T	p.R2254C
GP5D_LARGE_INTESTINE	42873683	42873875	42873801	42873801	Missense_Mutation	C	T	p.R2254C
SNU620_STOMACH	42873683	42873875	42873802	42873802	Missense_Mutation	G	A	p.R2254H
LN340_CENTRAL_NERVOUS_SYSTEM	42873683	42873875	42873867	42873867	Missense_Mutation	C	G	p.H2276D
SNU1040_LARGE_INTESTINE	42875502	42875634	42875573	42875573	Missense_Mutation	C	T	p.T2403I
GP2D_LARGE_INTESTINE	42875502	42875634	42875632	42875632	Nonsense_Mutation	C	T	p.Q2423*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MEGF8

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_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	GBM	rs34922891	chr19:42852549	C/T	1.23e-06
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	ESCA	rs34922891	chr19:42852549	C/T	2.32e-09
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	ESCA	rs1676211	chr19:42852480	G/A	3.10e-09
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	BRCA	rs1676211	chr19:42852480	G/A	7.92e-28
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	BRCA	rs34922891	chr19:42852549	C/T	9.92e-17
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	BRCA	rs1676211	chr19:42852480	G/A	2.73e-03
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	KIRC	rs1676211	chr19:42852480	G/A	1.32e-23
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	KIRC	rs34922891	chr19:42852549	C/T	1.29e-16
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	LUSC	rs1676211	chr19:42852480	G/A	2.60e-03
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	PAAD	rs1676211	chr19:42852480	G/A	2.89e-08
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	PAAD	rs34922891	chr19:42852549	C/T	1.38e-07
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	PRAD	rs1676211	chr19:42852480	G/A	1.46e-17
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	SARC	rs1676211	chr19:42852480	G/A	3.66e-14
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	SARC	rs34922891	chr19:42852549	C/T	2.44e-10
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	SKCM	rs1676211	chr19:42852480	G/A	1.12e-04
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	SKCM	rs34922891	chr19:42852549	C/T	1.12e-04
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	STAD	rs1676211	chr19:42852480	G/A	4.64e-07
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	STAD	rs34922891	chr19:42852549	C/T	7.12e-06
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	THCA	rs1676211	chr19:42852480	G/A	1.05e-23
exon_skip_307716	19	42848826:42848985:42852423:42852624:42853650:42853851	42852423:42852624	ENST00000251268.6	THCA	rs34922891	chr19:42852549	C/T	1.90e-20
exon_skip_307721	19	42852440:42852624:42853650:42853851:42854299:42854536	42853650:42853851	ENST00000251268.6	ESCA	rs28621009	chr19:42853782	T/C	6.49e-10
exon_skip_307721	19	42852440:42852624:42853650:42853851:42854299:42854536	42853650:42853851	ENST00000251268.6	LUSC	rs28621009	chr19:42853782	T/C	5.13e-04
exon_skip_307721	19	42852440:42852624:42853650:42853851:42854299:42854536	42853650:42853851	ENST00000251268.6	PAAD	rs28621009	chr19:42853782	T/C	4.60e-08
exon_skip_307721	19	42852440:42852624:42853650:42853851:42854299:42854536	42853650:42853851	ENST00000251268.6	PRAD	rs28621009	chr19:42853782	T/C	9.06e-12
exon_skip_307721	19	42852440:42852624:42853650:42853851:42854299:42854536	42853650:42853851	ENST00000251268.6	SARC	rs28621009	chr19:42853782	T/C	1.31e-11
exon_skip_307721	19	42852440:42852624:42853650:42853851:42854299:42854536	42853650:42853851	ENST00000251268.6	SKCM	rs28621009	chr19:42853782	T/C	1.12e-04
exon_skip_307721	19	42852440:42852624:42853650:42853851:42854299:42854536	42853650:42853851	ENST00000251268.6	THCA	rs28621009	chr19:42853782	T/C	4.76e-20
exon_skip_307723	19	42862295:42862459:42862938:42863106:42863249:42863394	42862938:42863106	ENST00000251268.6,ENST00000334370.4	ESCA	rs1206038	chr19:42863035	A/G	5.66e-09
exon_skip_307723	19	42862295:42862459:42862938:42863106:42863249:42863394	42862938:42863106	ENST00000251268.6,ENST00000334370.4	BRCA	rs1206038	chr19:42863035	A/G	8.21e-29
exon_skip_307723	19	42862295:42862459:42862938:42863106:42863249:42863394	42862938:42863106	ENST00000251268.6,ENST00000334370.4	BRCA	rs1206038	chr19:42863035	A/G	2.44e-03
exon_skip_307723	19	42862295:42862459:42862938:42863106:42863249:42863394	42862938:42863106	ENST00000251268.6,ENST00000334370.4	KIRC	rs1206038	chr19:42863035	A/G	1.32e-23
exon_skip_307723	19	42862295:42862459:42862938:42863106:42863249:42863394	42862938:42863106	ENST00000251268.6,ENST00000334370.4	PAAD	rs1206038	chr19:42863035	A/G	2.89e-08
exon_skip_307723	19	42862295:42862459:42862938:42863106:42863249:42863394	42862938:42863106	ENST00000251268.6,ENST00000334370.4	PRAD	rs1206038	chr19:42863035	A/G	1.46e-17
exon_skip_307723	19	42862295:42862459:42862938:42863106:42863249:42863394	42862938:42863106	ENST00000251268.6,ENST00000334370.4	SARC	rs1206038	chr19:42863035	A/G	3.66e-14
exon_skip_307723	19	42862295:42862459:42862938:42863106:42863249:42863394	42862938:42863106	ENST00000251268.6,ENST00000334370.4	SKCM	rs1206038	chr19:42863035	A/G	1.12e-04
exon_skip_307723	19	42862295:42862459:42862938:42863106:42863249:42863394	42862938:42863106	ENST00000251268.6,ENST00000334370.4	STAD	rs1206038	chr19:42863035	A/G	3.66e-07
exon_skip_307723	19	42862295:42862459:42862938:42863106:42863249:42863394	42862938:42863106	ENST00000251268.6,ENST00000334370.4	THCA	rs1206038	chr19:42863035	A/G	1.07e-24

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MEGF8

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MEGF8

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RelatedDrugs for MEGF8

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 MEGF8

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MEGF8	C3554247	CARPENTER SYNDROME 2	1	UNIPROT

	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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