ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for EEA1

Gene summary

Gene information	Gene symbol	EEA1
	Gene ID	8411
	Gene name	early endosome antigen 1
	Synonyms	MST105\|MSTP105\|ZFYVE2
	Cytomap	12q22
	Type of gene	protein-coding
	Description	early endosome antigen 1early endosome antigen 1, 162kDearly endosome-associated proteinendosome-associated protein p162zinc finger FYVE domain-containing protein 2
	Modification date	20180522
	UniProtAcc	Q15075
	Context	PubMed: EEA1 [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 EEA1 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 EEA1

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 EEA1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_95285	12	93164412:93169909:93170619:93170718:93171318:93171439	93170619:93170718	ENSG00000102189.12	ENST00000322349.8
exon_skip_95288	12	93175725:93175911:93181642:93181825:93192667:93192862	93181642:93181825	ENSG00000102189.12	ENST00000322349.8
exon_skip_95290	12	93196440:93196510:93202792:93202932:93205054:93205210	93202792:93202932	ENSG00000102189.12	ENST00000418984.3,ENST00000322349.8
exon_skip_95291	12	93202792:93202932:93205054:93205210:93206755:93206869	93205054:93205210	ENSG00000102189.12	ENST00000418984.3,ENST00000322349.8
exon_skip_95294	12	93205054:93205210:93206755:93206869:93209975:93210176	93206755:93206869	ENSG00000102189.12	ENST00000418984.3,ENST00000322349.8
exon_skip_95296	12	93221687:93221837:93226287:93226626:93236240:93236357	93226287:93226626	ENSG00000102189.12	ENST00000418984.3,ENST00000322349.8
exon_skip_95299	12	93246687:93246801:93247690:93247730:93251050:93251116	93247690:93247730	ENSG00000102189.12	ENST00000418984.3,ENST00000322349.8
exon_skip_95300	12	93247690:93247730:93251050:93251116:93251206:93251261	93251050:93251116	ENSG00000102189.12	ENST00000418984.3,ENST00000322349.8
exon_skip_95302	12	93251221:93251261:93258635:93258763:93285404:93285497	93258635:93258763	ENSG00000102189.12	ENST00000322349.8,ENST00000547833.1
exon_skip_95304	12	93258635:93258763:93273022:93273139:93285404:93285497	93273022:93273139	ENSG00000102189.12	ENST00000553019.1
exon_skip_95306	12	93285404:93285497:93299261:93299372:93322818:93323038	93299261:93299372	ENSG00000102189.12	ENST00000547833.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for EEA1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_95285	12	93164412:93169909:93170619:93170718:93171318:93171439	93170619:93170718	ENSG00000102189.12	ENST00000322349.8
exon_skip_95288	12	93175725:93175911:93181642:93181825:93192667:93192862	93181642:93181825	ENSG00000102189.12	ENST00000322349.8
exon_skip_95290	12	93196440:93196510:93202792:93202932:93205054:93205210	93202792:93202932	ENSG00000102189.12	ENST00000322349.8,ENST00000418984.3
exon_skip_95291	12	93202792:93202932:93205054:93205210:93206755:93206869	93205054:93205210	ENSG00000102189.12	ENST00000322349.8,ENST00000418984.3
exon_skip_95294	12	93205054:93205210:93206755:93206869:93209975:93210176	93206755:93206869	ENSG00000102189.12	ENST00000322349.8,ENST00000418984.3
exon_skip_95296	12	93221687:93221837:93226287:93226626:93236240:93236357	93226287:93226626	ENSG00000102189.12	ENST00000322349.8,ENST00000418984.3
exon_skip_95299	12	93246687:93246801:93247690:93247730:93251050:93251116	93247690:93247730	ENSG00000102189.12	ENST00000322349.8,ENST00000418984.3
exon_skip_95302	12	93251221:93251261:93258635:93258763:93285404:93285497	93258635:93258763	ENSG00000102189.12	ENST00000322349.8,ENST00000547833.1
exon_skip_95304	12	93258635:93258763:93273022:93273139:93285404:93285497	93273022:93273139	ENSG00000102189.12	ENST00000553019.1
exon_skip_95306	12	93285404:93285497:93299261:93299372:93322818:93323038	93299261:93299372	ENSG00000102189.12	ENST00000547833.1

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 EEA1

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
ENST00000322349	93202792	93202932	Frame-shift
ENST00000322349	93247690	93247730	Frame-shift
ENST00000322349	93258635	93258763	Frame-shift
ENST00000322349	93170619	93170718	In-frame
ENST00000322349	93181642	93181825	In-frame
ENST00000322349	93205054	93205210	In-frame
ENST00000322349	93206755	93206869	In-frame
ENST00000322349	93226287	93226626	In-frame
ENST00000322349	93251050	93251116	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
ENST00000322349	93202792	93202932	Frame-shift
ENST00000322349	93247690	93247730	Frame-shift
ENST00000322349	93258635	93258763	Frame-shift
ENST00000322349	93170619	93170718	In-frame
ENST00000322349	93181642	93181825	In-frame
ENST00000322349	93205054	93205210	In-frame
ENST00000322349	93206755	93206869	In-frame
ENST00000322349	93226287	93226626	In-frame

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Infer the effects of exon skipping event on protein functional features for EEA1

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
ENST00000322349	9892	1411	93251050	93251116	566	631	100	122
ENST00000322349	9892	1411	93226287	93226626	1181	1519	305	418
ENST00000322349	9892	1411	93206755	93206869	2195	2308	643	681
ENST00000322349	9892	1411	93205054	93205210	2309	2464	681	733
ENST00000322349	9892	1411	93181642	93181825	3233	3415	989	1050
ENST00000322349	9892	1411	93170619	93170718	4280	4378	1338	1371

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
ENST00000322349	9892	1411	93226287	93226626	1181	1519	305	418
ENST00000322349	9892	1411	93206755	93206869	2195	2308	643	681
ENST00000322349	9892	1411	93205054	93205210	2309	2464	681	733
ENST00000322349	9892	1411	93181642	93181825	3233	3415	989	1050
ENST00000322349	9892	1411	93170619	93170718	4280	4378	1338	1371

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
Q15075	100	122	1	1411	Chain	ID=PRO_0000098706;Note=Early endosome antigen 1
Q15075	100	122	74	1348	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15075	305	418	1	1411	Chain	ID=PRO_0000098706;Note=Early endosome antigen 1
Q15075	305	418	74	1348	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15075	305	418	397	758	Compositional bias	Note=Gln/Glu/Lys-rich
Q15075	643	681	1	1411	Chain	ID=PRO_0000098706;Note=Early endosome antigen 1
Q15075	643	681	74	1348	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15075	643	681	397	758	Compositional bias	Note=Gln/Glu/Lys-rich
Q15075	643	681	680	680	Sequence conflict	Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15075	681	733	1	1411	Chain	ID=PRO_0000098706;Note=Early endosome antigen 1
Q15075	681	733	74	1348	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15075	681	733	397	758	Compositional bias	Note=Gln/Glu/Lys-rich
Q15075	989	1050	1	1411	Chain	ID=PRO_0000098706;Note=Early endosome antigen 1
Q15075	989	1050	74	1348	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15075	989	1050	937	1032	Compositional bias	Note=Gln/Glu/Lys-rich
Q15075	1338	1371	1367	1369	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JOC
Q15075	1338	1371	1371	1373	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HYI
Q15075	1338	1371	1	1411	Chain	ID=PRO_0000098706;Note=Early endosome antigen 1
Q15075	1338	1371	74	1348	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15075	1338	1371	1326	1346	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JOC
Q15075	1338	1371	1352	1354	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JOC
Q15075	1338	1371	1349	1349	Mutagenesis	Note=Reduces phosphatidylinositol 3-phosphate binding and endosomal location. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10807926;Dbxref=PMID:10807926
Q15075	1338	1371	1352	1352	Mutagenesis	Note=Reduces phosphatidylinositol 3-phosphate binding and endosomal location. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10394369;Dbxref=PMID:10394369
Q15075	1338	1371	1357	1357	Mutagenesis	Note=Reduces phosphatidylinositol 3-phosphate binding and endosomal location. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10394369;Dbxref=PMID:10394369
Q15075	1338	1371	1358	1358	Mutagenesis	Note=Abolishes phosphatidylinositol 3-phosphate binding and endosomal location. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10807926;Dbxref=PMID:10807926
Q15075	1338	1371	1365	1365	Mutagenesis	Note=Strongly reduces phosphatidylinositol 3-phosphate binding and endosomal location. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10807926;Dbxref=PMID:10807926
Q15075	1338	1371	1367	1368	Mutagenesis	Note=Abolishes phosphatidylinositol 3-phosphate binding and endosomal location. VT->EE%2CGG;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10394369;Dbxref=PMID:10394369
Q15075	1338	1371	1370	1370	Mutagenesis	Note=Abolishes endosomal location. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10807926;Dbxref=PMID:10807926
Q15075	1338	1371	1371	1371	Mutagenesis	Note=Abolishes phosphatidylinositol 3-phosphate binding and endosomal location. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10807926;Dbxref=PMID:10807926
Q15075	1338	1371	1359	1361	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JOC
Q15075	1338	1371	1352	1410	Zinc finger	Note=FYVE-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00091

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
Q15075	305	418	1	1411	Chain	ID=PRO_0000098706;Note=Early endosome antigen 1
Q15075	305	418	74	1348	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15075	305	418	397	758	Compositional bias	Note=Gln/Glu/Lys-rich
Q15075	643	681	1	1411	Chain	ID=PRO_0000098706;Note=Early endosome antigen 1
Q15075	643	681	74	1348	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15075	643	681	397	758	Compositional bias	Note=Gln/Glu/Lys-rich
Q15075	643	681	680	680	Sequence conflict	Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15075	681	733	1	1411	Chain	ID=PRO_0000098706;Note=Early endosome antigen 1
Q15075	681	733	74	1348	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15075	681	733	397	758	Compositional bias	Note=Gln/Glu/Lys-rich
Q15075	989	1050	1	1411	Chain	ID=PRO_0000098706;Note=Early endosome antigen 1
Q15075	989	1050	74	1348	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15075	989	1050	937	1032	Compositional bias	Note=Gln/Glu/Lys-rich
Q15075	1338	1371	1367	1369	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JOC
Q15075	1338	1371	1371	1373	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1HYI
Q15075	1338	1371	1	1411	Chain	ID=PRO_0000098706;Note=Early endosome antigen 1
Q15075	1338	1371	74	1348	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q15075	1338	1371	1326	1346	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JOC
Q15075	1338	1371	1352	1354	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JOC
Q15075	1338	1371	1349	1349	Mutagenesis	Note=Reduces phosphatidylinositol 3-phosphate binding and endosomal location. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10807926;Dbxref=PMID:10807926
Q15075	1338	1371	1352	1352	Mutagenesis	Note=Reduces phosphatidylinositol 3-phosphate binding and endosomal location. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10394369;Dbxref=PMID:10394369
Q15075	1338	1371	1357	1357	Mutagenesis	Note=Reduces phosphatidylinositol 3-phosphate binding and endosomal location. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10394369;Dbxref=PMID:10394369
Q15075	1338	1371	1358	1358	Mutagenesis	Note=Abolishes phosphatidylinositol 3-phosphate binding and endosomal location. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10807926;Dbxref=PMID:10807926
Q15075	1338	1371	1365	1365	Mutagenesis	Note=Strongly reduces phosphatidylinositol 3-phosphate binding and endosomal location. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10807926;Dbxref=PMID:10807926
Q15075	1338	1371	1367	1368	Mutagenesis	Note=Abolishes phosphatidylinositol 3-phosphate binding and endosomal location. VT->EE%2CGG;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10394369;Dbxref=PMID:10394369
Q15075	1338	1371	1370	1370	Mutagenesis	Note=Abolishes endosomal location. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10807926;Dbxref=PMID:10807926
Q15075	1338	1371	1371	1371	Mutagenesis	Note=Abolishes phosphatidylinositol 3-phosphate binding and endosomal location. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10807926;Dbxref=PMID:10807926
Q15075	1338	1371	1359	1361	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1JOC
Q15075	1338	1371	1352	1410	Zinc finger	Note=FYVE-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00091

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SNVs in the skipped exons for EEA1

- 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.

EEA1_STAD_exon_skip_95294_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-G3-A3CJ-01	exon_skip_95288	93181643	93181825	93181760	93181760	Frame_Shift_Del	T	-	p.K1011fs
LIHC	TCGA-DD-A3A0-01	exon_skip_95290	93202793	93202932	93202801	93202801	Frame_Shift_Del	C	-	p.E777fs
HNSC	TCGA-CV-7243-01	exon_skip_95291	93205055	93205210	93205154	93205158	Frame_Shift_Del	CTTGT	-	p.D699fs
HNSC	TCGA-CV-7243-01	exon_skip_95291	93205055	93205210	93205154	93205158	Frame_Shift_Del	CTTGT	-	p.DK699fs
KIRC	TCGA-A3-3311-01	exon_skip_95291	93205055	93205210	93205170	93205170	Frame_Shift_Del	G	-	p.A695fs
LUAD	TCGA-17-Z057-01	exon_skip_95294	93206756	93206869	93206841	93206841	Frame_Shift_Del	G	-	p.S653fs
LIHC	TCGA-DD-A39Y-01	exon_skip_95296	93226288	93226626	93226495	93226495	Frame_Shift_Del	A	-	p.L349fs
LIHC	TCGA-DD-A39Y-01	exon_skip_95296	93226288	93226626	93226544	93226544	Frame_Shift_Del	T	-	p.K333fs
LIHC	TCGA-DD-A3A0-01	exon_skip_95296	93226288	93226626	93226544	93226544	Frame_Shift_Del	T	-	p.K333fs
LIHC	TCGA-DD-A39Y-01	exon_skip_95300	93251051	93251116	93251072	93251072	Frame_Shift_Del	T	-	p.K115fs
LIHC	TCGA-DD-A39Y-01	exon_skip_95300	93251051	93251116	93251072	93251072	Frame_Shift_Del	T	-	p.Y116fs
LIHC	TCGA-DD-A1EG-01	exon_skip_95300	93251051	93251116	93251108	93251108	Frame_Shift_Del	T	-	p.K103fs
LIHC	TCGA-BC-A112-01	exon_skip_95291	93205055	93205210	93205176	93205177	Frame_Shift_Ins	-	C	p.H693fs
LIHC	TCGA-DD-AACQ-01	exon_skip_95285	93170620	93170718	93170694	93170694	Nonsense_Mutation	T	A	p.R1347X
BRCA	TCGA-AR-A0TY-01	exon_skip_95285	93170620	93170718	93170706	93170706	Nonsense_Mutation	G	A	p.Q1343*
UCEC	TCGA-BS-A0UF-01	exon_skip_95291	93205055	93205210	93205117	93205117	Nonsense_Mutation	C	A	p.E713*
CHOL	TCGA-W5-AA30-01	exon_skip_95296	93226288	93226626	93226362	93226362	Nonsense_Mutation	C	A	p.E394X
STAD	TCGA-BR-A4QL-01	exon_skip_95294	93206756	93206869	93206754	93206754	Splice_Site	A	G	.
STAD	TCGA-BR-A4QL-01	exon_skip_95294	93206756	93206869	93206754	93206754	Splice_Site	A	G	p.Q681_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-BR-A4QL-01
	Cancer type: STAD
	ESID: exon_skip_95294
	Skipped exon start: 93206756
	Skipped exon end: 93206869
	Mutation start: 93206754
	Mutation end: 93206754
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: .
	Sample: TCGA-BR-A4QL-01
	Cancer type: STAD
	ESID: exon_skip_95294
	Skipped exon start: 93206756
	Skipped exon end: 93206869
	Mutation start: 93206754
	Mutation end: 93206754
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: p.Q681_splice
exon_skip_124605_STAD_TCGA-BR-A4QL-01.png
exon_skip_13071_STAD_TCGA-BR-A4QL-01.png
exon_skip_145593_STAD_TCGA-BR-A4QL-01.png
exon_skip_16608_STAD_TCGA-BR-A4QL-01.png
exon_skip_16960_STAD_TCGA-BR-A4QL-01.png
exon_skip_25783_STAD_TCGA-BR-A4QL-01.png
exon_skip_25785_STAD_TCGA-BR-A4QL-01.png
exon_skip_25787_STAD_TCGA-BR-A4QL-01.png
exon_skip_339350_STAD_TCGA-BR-A4QL-01.png
exon_skip_339352_STAD_TCGA-BR-A4QL-01.png
exon_skip_349646_STAD_TCGA-BR-A4QL-01.png
exon_skip_349648_STAD_TCGA-BR-A4QL-01.png
exon_skip_353133_STAD_TCGA-BR-A4QL-01.png
exon_skip_353134_STAD_TCGA-BR-A4QL-01.png
exon_skip_357521_STAD_TCGA-BR-A4QL-01.png
exon_skip_366741_STAD_TCGA-BR-A4QL-01.png
exon_skip_498531_STAD_TCGA-BR-A4QL-01.png
exon_skip_93093_STAD_TCGA-BR-A4QL-01.png
exon_skip_95294_STAD_TCGA-BR-A4QL-01.png
exon_skip_97694_STAD_TCGA-BR-A4QL-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
SNU175_LARGE_INTESTINE	93170620	93170718	93170684	93170684	Missense_Mutation	G	A	p.A1350V
JHUEM7_ENDOMETRIUM	93170620	93170718	93170702	93170702	Missense_Mutation	G	A	p.A1344V
ESO51_OESOPHAGUS	93181643	93181825	93181746	93181746	Missense_Mutation	A	G	p.V1016A
NB17_AUTONOMIC_GANGLIA	93181643	93181825	93181807	93181807	Missense_Mutation	G	T	p.L996I
BICR22_UPPER_AERODIGESTIVE_TRACT	93181643	93181825	93181816	93181816	Missense_Mutation	C	T	p.E993K
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	93181643	93181825	93181816	93181816	Missense_Mutation	C	T	p.E993K
DANG_PANCREAS	93205055	93205210	93205114	93205114	Missense_Mutation	A	G	p.Y714H
SEKI_SKIN	93226288	93226626	93226354	93226354	Missense_Mutation	C	A	p.K396N
HCC38_BREAST	93226288	93226626	93226471	93226471	Missense_Mutation	T	A	p.E357D
VMRCLCD_LUNG	93226288	93226626	93226565	93226565	Missense_Mutation	T	C	p.N326S
MDST8_LARGE_INTESTINE	93226288	93226626	93226565	93226565	Missense_Mutation	T	A	p.N326I
SNU719_STOMACH	93258636	93258763	93258675	93258675	Missense_Mutation	T	G	p.D69A
OVK18_OVARY	93206756	93206869	93206756	93206756	Splice_Site	C	G	p.Q681H

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EEA1

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 EEA1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EEA1

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RelatedDrugs for EEA1

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 EEA1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for EEA1

Exon skipping events across known transcript of Ensembl for EEA1 from UCSC genome browser

Gene isoform structures and expression levels for EEA1

Exon skipping events with PSIs in TCGA for EEA1

Exon skipping events with PSIs in GTEx for EEA1

Open reading frame (ORF) annotation in the exon skipping event for EEA1

Infer the effects of exon skipping event on protein functional features for EEA1

SNVs in the skipped exons for EEA1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EEA1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EEA1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EEA1

RelatedDrugs for EEA1

RelatedDiseases for EEA1