ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for EML2

Gene summary

Gene information	Gene symbol	EML2
	Gene ID	24139
	Gene name	echinoderm microtubule associated protein like 2
	Synonyms	ELP70\|EMAP-2\|EMAP2
	Cytomap	19q13.32
	Type of gene	protein-coding
	Description	echinoderm microtubule-associated protein-like 2echinoderm MT-associated protein (EMAP)-like protein 70microtubule-associated protein like echinoderm EMAP
	Modification date	20180523
	UniProtAcc	O95834
	Context	PubMed: EML2 [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
EML2	GO:0010968	regulation of microtubule nucleation	11694528
EML2	GO:0031115	negative regulation of microtubule polymerization	11694528

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Exon skipping events across known transcript of Ensembl for EML2 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 EML2

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 EML2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_319576	19	46117862:46117958:46118083:46118294:46119059:46119147	46118083:46118294	ENSG00000125746.10	ENST00000586405.1
exon_skip_319578	19	46119116:46119147:46119718:46119816:46120022:46120111	46119718:46119816	ENSG00000125746.10	ENST00000245925.3,ENST00000586195.1,ENST00000587152.1,ENST00000536630.1,ENST00000589876.1
exon_skip_319579	19	46120022:46120111:46120887:46120955:46122317:46122348	46120887:46120955	ENSG00000125746.10	ENST00000245925.3,ENST00000586195.1,ENST00000587152.1,ENST00000536630.1,ENST00000587484.1,ENST00000592482.1,ENST00000590819.1,ENST00000589876.1
exon_skip_319583	19	46120934:46120955:46122079:46122201:46122317:46122348	46122079:46122201	ENSG00000125746.10	ENST00000399594.3
exon_skip_319585	19	46120934:46120955:46122317:46122449:46124464:46124590	46122317:46122449	ENSG00000125746.10	ENST00000245925.3,ENST00000586195.1,ENST00000587152.1,ENST00000536630.1,ENST00000588272.1,ENST00000590819.1,ENST00000589876.1
exon_skip_319608	19	46122317:46122449:46124464:46124590:46133208:46133290	46124464:46124590	ENSG00000125746.10	ENST00000588272.1
exon_skip_319620	19	46124464:46124590:46124740:46124895:46127976:46128040	46124740:46124895	ENSG00000125746.10	ENST00000245925.3,ENST00000586195.1,ENST00000587152.1,ENST00000536630.1,ENST00000399594.3,ENST00000590575.1,ENST00000588000.1,ENST00000589876.1,ENST00000588308.1,ENST00000588496.1
exon_skip_319621	19	46124464:46124590:46124740:46124895:46129962:46130010	46124740:46124895	ENSG00000125746.10	ENST00000588610.1
exon_skip_319623	19	46124464:46124590:46127976:46128076:46129962:46130010	46127976:46128076	ENSG00000125746.10	ENST00000590819.1
exon_skip_319629	19	46124811:46124895:46127976:46128076:46129962:46130010	46127976:46128076	ENSG00000125746.10	ENST00000245925.3,ENST00000586195.1,ENST00000587152.1,ENST00000536630.1,ENST00000399594.3,ENST00000586902.1,ENST00000588000.1,ENST00000589876.1,ENST00000588308.1,ENST00000588496.1
exon_skip_319631	19	46124811:46124895:46129962:46130097:46133208:46133290	46129962:46130097	ENSG00000125746.10	ENST00000588610.1
exon_skip_319632	19	46127977:46128076:46129962:46130097:46133208:46133290	46129962:46130097	ENSG00000125746.10	ENST00000245925.3,ENST00000586195.1,ENST00000587152.1,ENST00000536630.1,ENST00000399594.3,ENST00000586902.1,ENST00000588000.1,ENST00000589876.1,ENST00000590580.1,ENST00000588308.1
exon_skip_319633	19	46127977:46128076:46129962:46130097:46136118:46136229	46129962:46130097	ENSG00000125746.10	ENST00000588496.1
exon_skip_319636	19	46129962:46130097:46131955:46132053:46133208:46133290	46131955:46132053	ENSG00000125746.10	ENST00000592853.1
exon_skip_319637	19	46129962:46130097:46133208:46133304:46136118:46136229	46133208:46133304	ENSG00000125746.10	ENST00000245925.3,ENST00000588610.1,ENST00000586195.1,ENST00000587152.1,ENST00000536630.1,ENST00000399594.3,ENST00000586770.1,ENST00000588000.1,ENST00000589876.1,ENST00000588308.1
exon_skip_319638	19	46133221:46133304:46136118:46136397:46137579:46137729	46136118:46136397	ENSG00000125746.10	ENST00000587804.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for EML2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_319576	19	46117862:46117958:46118083:46118294:46119059:46119147	46118083:46118294	ENSG00000125746.10	ENST00000586405.1
exon_skip_319578	19	46119116:46119147:46119718:46119816:46120022:46120111	46119718:46119816	ENSG00000125746.10	ENST00000589876.1,ENST00000586195.1,ENST00000245925.3,ENST00000536630.1,ENST00000587152.1
exon_skip_319579	19	46120022:46120111:46120887:46120955:46122317:46122348	46120887:46120955	ENSG00000125746.10	ENST00000589876.1,ENST00000586195.1,ENST00000245925.3,ENST00000536630.1,ENST00000587152.1,ENST00000587484.1,ENST00000592482.1,ENST00000590819.1
exon_skip_319583	19	46120934:46120955:46122079:46122201:46122317:46122348	46122079:46122201	ENSG00000125746.10	ENST00000399594.3
exon_skip_319585	19	46120934:46120955:46122317:46122449:46124464:46124590	46122317:46122449	ENSG00000125746.10	ENST00000589876.1,ENST00000586195.1,ENST00000245925.3,ENST00000536630.1,ENST00000587152.1,ENST00000590819.1,ENST00000588272.1
exon_skip_319608	19	46122317:46122449:46124464:46124590:46133208:46133290	46124464:46124590	ENSG00000125746.10	ENST00000588272.1
exon_skip_319620	19	46124464:46124590:46124740:46124895:46127976:46128040	46124740:46124895	ENSG00000125746.10	ENST00000589876.1,ENST00000588308.1,ENST00000586195.1,ENST00000245925.3,ENST00000536630.1,ENST00000587152.1,ENST00000399594.3,ENST00000590575.1,ENST00000588000.1,ENST00000588496.1
exon_skip_319621	19	46124464:46124590:46124740:46124895:46129962:46130010	46124740:46124895	ENSG00000125746.10	ENST00000588610.1
exon_skip_319623	19	46124464:46124590:46127976:46128076:46129962:46130010	46127976:46128076	ENSG00000125746.10	ENST00000590819.1
exon_skip_319629	19	46124811:46124895:46127976:46128076:46129962:46130010	46127976:46128076	ENSG00000125746.10	ENST00000589876.1,ENST00000588308.1,ENST00000586195.1,ENST00000245925.3,ENST00000536630.1,ENST00000587152.1,ENST00000399594.3,ENST00000588000.1,ENST00000588496.1,ENST00000586902.1
exon_skip_319631	19	46124811:46124895:46129962:46130097:46133208:46133290	46129962:46130097	ENSG00000125746.10	ENST00000588610.1
exon_skip_319632	19	46127977:46128076:46129962:46130097:46133208:46133290	46129962:46130097	ENSG00000125746.10	ENST00000589876.1,ENST00000588308.1,ENST00000586195.1,ENST00000245925.3,ENST00000536630.1,ENST00000587152.1,ENST00000399594.3,ENST00000588000.1,ENST00000586902.1,ENST00000590580.1
exon_skip_319633	19	46127977:46128076:46129962:46130097:46136118:46136229	46129962:46130097	ENSG00000125746.10	ENST00000588496.1
exon_skip_319636	19	46129962:46130097:46131955:46132053:46133208:46133290	46131955:46132053	ENSG00000125746.10	ENST00000592853.1
exon_skip_319637	19	46129962:46130097:46133208:46133304:46136118:46136229	46133208:46133304	ENSG00000125746.10	ENST00000589876.1,ENST00000588308.1,ENST00000586195.1,ENST00000245925.3,ENST00000536630.1,ENST00000587152.1,ENST00000399594.3,ENST00000588000.1,ENST00000588610.1,ENST00000586770.1
exon_skip_319638	19	46133221:46133304:46136118:46136397:46137579:46137729	46136118:46136397	ENSG00000125746.10	ENST00000587804.1

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 EML2

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
ENST00000245925	46119718	46119816	Frame-shift
ENST00000245925	46120887	46120955	Frame-shift
ENST00000245925	46124740	46124895	Frame-shift
ENST00000245925	46127976	46128076	Frame-shift
ENST00000245925	46122317	46122449	In-frame
ENST00000245925	46129962	46130097	In-frame
ENST00000245925	46133208	46133304	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
ENST00000245925	46119718	46119816	Frame-shift
ENST00000245925	46120887	46120955	Frame-shift
ENST00000245925	46124740	46124895	Frame-shift
ENST00000245925	46127976	46128076	Frame-shift
ENST00000245925	46122317	46122449	In-frame
ENST00000245925	46129962	46130097	In-frame
ENST00000245925	46133208	46133304	In-frame

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Infer the effects of exon skipping event on protein functional features for EML2

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
ENST00000245925	2281	649	46133208	46133304	562	657	170	202
ENST00000245925	2281	649	46129962	46130097	658	792	202	247
ENST00000245925	2281	649	46122317	46122449	1174	1305	374	418

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
ENST00000245925	2281	649	46133208	46133304	562	657	170	202
ENST00000245925	2281	649	46129962	46130097	658	792	202	247
ENST00000245925	2281	649	46122317	46122449	1174	1305	374	418

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
O95834	170	202	1	649	Chain	ID=PRO_0000050962;Note=Echinoderm microtubule-associated protein-like 2
O95834	170	202	187	187	Natural variant	ID=VAR_031724;Note=L->F;Dbxref=dbSNP:rs7252175
O95834	170	202	10	649	Region	Note=Tandem atypical propeller in EMLs;Ontology_term=ECO:0000250;evidence=ECO:0000250
O95834	170	202	151	192	Repeat	Note=WD 3
O95834	170	202	195	234	Repeat	Note=WD 4
O95834	202	247	1	649	Chain	ID=PRO_0000050962;Note=Echinoderm microtubule-associated protein-like 2
O95834	202	247	235	235	Natural variant	ID=VAR_024697;Note=E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.6;Dbxref=dbSNP:rs1545040
O95834	202	247	10	649	Region	Note=Tandem atypical propeller in EMLs;Ontology_term=ECO:0000250;evidence=ECO:0000250
O95834	202	247	195	234	Repeat	Note=WD 4
O95834	202	247	241	280	Repeat	Note=WD 5
O95834	374	418	1	649	Chain	ID=PRO_0000050962;Note=Echinoderm microtubule-associated protein-like 2
O95834	374	418	10	649	Region	Note=Tandem atypical propeller in EMLs;Ontology_term=ECO:0000250;evidence=ECO:0000250
O95834	374	418	369	406	Repeat	Note=WD 7
O95834	374	418	410	447	Repeat	Note=WD 8

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
O95834	170	202	1	649	Chain	ID=PRO_0000050962;Note=Echinoderm microtubule-associated protein-like 2
O95834	170	202	187	187	Natural variant	ID=VAR_031724;Note=L->F;Dbxref=dbSNP:rs7252175
O95834	170	202	10	649	Region	Note=Tandem atypical propeller in EMLs;Ontology_term=ECO:0000250;evidence=ECO:0000250
O95834	170	202	151	192	Repeat	Note=WD 3
O95834	170	202	195	234	Repeat	Note=WD 4
O95834	202	247	1	649	Chain	ID=PRO_0000050962;Note=Echinoderm microtubule-associated protein-like 2
O95834	202	247	235	235	Natural variant	ID=VAR_024697;Note=E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.6;Dbxref=dbSNP:rs1545040
O95834	202	247	10	649	Region	Note=Tandem atypical propeller in EMLs;Ontology_term=ECO:0000250;evidence=ECO:0000250
O95834	202	247	195	234	Repeat	Note=WD 4
O95834	202	247	241	280	Repeat	Note=WD 5
O95834	374	418	1	649	Chain	ID=PRO_0000050962;Note=Echinoderm microtubule-associated protein-like 2
O95834	374	418	10	649	Region	Note=Tandem atypical propeller in EMLs;Ontology_term=ECO:0000250;evidence=ECO:0000250
O95834	374	418	369	406	Repeat	Note=WD 7
O95834	374	418	410	447	Repeat	Note=WD 8

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SNVs in the skipped exons for EML2

- 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.

EML2_COAD_exon_skip_319638_psi_boxplot.png
boxplot

EML2_LIHC_exon_skip_319638_psi_boxplot.png
boxplot

EML2_UCEC_exon_skip_319638_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_319629 exon_skip_319623	46127977	46128076	46127982	46127982	Frame_Shift_Del	C	-	p.G426fs
UCEC	TCGA-D1-A174-01	exon_skip_319629 exon_skip_319623	46127977	46128076	46127999	46127999	Frame_Shift_Del	C	-	p.G474fs
LIHC	TCGA-DD-A3A0-01	exon_skip_319629 exon_skip_319623	46127977	46128076	46128010	46128010	Frame_Shift_Del	C	-	p.D417fs
LIHC	TCGA-DD-A1EG-01	exon_skip_319629 exon_skip_319623	46127977	46128076	46128036	46128036	Frame_Shift_Del	A	-	p.L408fs
ACC	TCGA-OR-A5J5-01	exon_skip_319631 exon_skip_319633 exon_skip_319632	46129963	46130097	46129994	46129994	Frame_Shift_Del	C	-	p.G237fs
ACC	TCGA-OR-A5J5-01	exon_skip_319631 exon_skip_319633 exon_skip_319632	46129963	46130097	46129994	46129994	Frame_Shift_Del	C	-	p.G384fs
ACC	TCGA-OR-A5J5-01	exon_skip_319631 exon_skip_319633 exon_skip_319632	46129963	46130097	46129994	46129994	Frame_Shift_Del	C	-	p.G438fs
COAD	TCGA-CM-5861-01	exon_skip_319631 exon_skip_319633 exon_skip_319632	46129963	46130097	46129994	46129994	Frame_Shift_Del	C	-	p.G237fs
ESCA	TCGA-L5-A8NM-01	exon_skip_319631 exon_skip_319633 exon_skip_319632	46129963	46130097	46129994	46129994	Frame_Shift_Del	C	-	p.G384fs
ESCA	TCGA-L5-A8NM-01	exon_skip_319631 exon_skip_319633 exon_skip_319632	46129963	46130097	46129994	46129994	Frame_Shift_Del	C	-	p.G438fs
COAD	TCGA-AD-6895-01	exon_skip_319638	46136119	46136397	46136160	46136160	Frame_Shift_Del	C	-	p.V157fs
LIHC	TCGA-DD-A1EG-01	exon_skip_319638	46136119	46136397	46136160	46136160	Frame_Shift_Del	C	-	p.V304fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_319638	46136119	46136397	46136217	46136217	Frame_Shift_Del	G	-	p.H285fs
UCEC	TCGA-B5-A0K9-01	exon_skip_319638	46136119	46136397	46136131	46136132	Frame_Shift_Ins	-	C	p.G367fs
LUSC	TCGA-60-2723-01	exon_skip_319629 exon_skip_319623	46127977	46128076	46127984	46127984	Nonsense_Mutation	C	T	p.W479*
GBM	TCGA-14-2554-01	exon_skip_319629 exon_skip_319623	46127977	46128076	46127976	46127976	Splice_Site	C	T	p.G482_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-AD-6895-01
	Cancer type: COAD
	ESID: exon_skip_319638
	Skipped exon start: 46136119
	Skipped exon end: 46136397
	Mutation start: 46136160
	Mutation end: 46136160
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.V157fs
exon_skip_300676_COAD_TCGA-AD-6895-01.png
exon_skip_313784_COAD_TCGA-AD-6895-01.png
exon_skip_319638_COAD_TCGA-AD-6895-01.png
exon_skip_322202_COAD_TCGA-AD-6895-01.png
exon_skip_370500_COAD_TCGA-AD-6895-01.png
exon_skip_370501_COAD_TCGA-AD-6895-01.png
exon_skip_370503_COAD_TCGA-AD-6895-01.png
exon_skip_439050_COAD_TCGA-AD-6895-01.png
exon_skip_56683_COAD_TCGA-AD-6895-01.png
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_319623
	Skipped exon start: 46127977
	Skipped exon end: 46128076
	Mutation start: 46128036
	Mutation end: 46128036
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.L408fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_319638
	Skipped exon start: 46136119
	Skipped exon end: 46136397
	Mutation start: 46136160
	Mutation end: 46136160
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.V304fs
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png
exon_skip_100809_LIHC_TCGA-DD-A1EG-01.png
exon_skip_101656_LIHC_TCGA-DD-A1EG-01.png
exon_skip_10700_LIHC_TCGA-DD-A1EG-01.png
exon_skip_109033_LIHC_TCGA-DD-A1EG-01.png
exon_skip_110000_LIHC_TCGA-DD-A1EG-01.png
exon_skip_110381_LIHC_TCGA-DD-A1EG-01.png
exon_skip_110545_LIHC_TCGA-DD-A1EG-01.png
exon_skip_11218_LIHC_TCGA-DD-A1EG-01.png
exon_skip_11256_LIHC_TCGA-DD-A1EG-01.png
exon_skip_11259_LIHC_TCGA-DD-A1EG-01.png
exon_skip_11263_LIHC_TCGA-DD-A1EG-01.png
exon_skip_115462_LIHC_TCGA-DD-A1EG-01.png
exon_skip_115587_LIHC_TCGA-DD-A1EG-01.png
exon_skip_116330_LIHC_TCGA-DD-A1EG-01.png
exon_skip_121002_LIHC_TCGA-DD-A1EG-01.png
exon_skip_123667_LIHC_TCGA-DD-A1EG-01.png
exon_skip_12440_LIHC_TCGA-DD-A1EG-01.png
exon_skip_125045_LIHC_TCGA-DD-A1EG-01.png
exon_skip_129202_LIHC_TCGA-DD-A1EG-01.png
exon_skip_129996_LIHC_TCGA-DD-A1EG-01.png
exon_skip_130099_LIHC_TCGA-DD-A1EG-01.png
exon_skip_13071_LIHC_TCGA-DD-A1EG-01.png
exon_skip_131505_LIHC_TCGA-DD-A1EG-01.png
exon_skip_131697_LIHC_TCGA-DD-A1EG-01.png
exon_skip_133542_LIHC_TCGA-DD-A1EG-01.png
exon_skip_133548_LIHC_TCGA-DD-A1EG-01.png
exon_skip_134792_LIHC_TCGA-DD-A1EG-01.png
exon_skip_135418_LIHC_TCGA-DD-A1EG-01.png
exon_skip_135741_LIHC_TCGA-DD-A1EG-01.png
exon_skip_135763_LIHC_TCGA-DD-A1EG-01.png
exon_skip_135820_LIHC_TCGA-DD-A1EG-01.png
exon_skip_13608_LIHC_TCGA-DD-A1EG-01.png
exon_skip_138255_LIHC_TCGA-DD-A1EG-01.png
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	Sample: TCGA-B5-A0K9-01
	Cancer type: UCEC
	ESID: exon_skip_319638
	Skipped exon start: 46136119
	Skipped exon end: 46136397
	Mutation start: 46136131
	Mutation end: 46136132
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.G367fs
exon_skip_101656_UCEC_TCGA-B5-A0K9-01.png
exon_skip_25134_UCEC_TCGA-B5-A0K9-01.png
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exon_skip_54935_UCEC_TCGA-B5-A0K9-01.png
	Sample: TCGA-14-2554-01
	Cancer type: GBM
	ESID: exon_skip_319623
	Skipped exon start: 46127977
	Skipped exon end: 46128076
	Mutation start: 46127976
	Mutation end: 46127976
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: p.G482_splice
exon_skip_319623_GBM_TCGA-14-2554-01.png
	Sample: TCGA-60-2723-01
	Cancer type: LUSC
	ESID: exon_skip_319623
	Skipped exon start: 46127977
	Skipped exon end: 46128076
	Mutation start: 46127984
	Mutation end: 46127984
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W479*
exon_skip_319623_LUSC_TCGA-60-2723-01.png
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_319623
	Skipped exon start: 46127977
	Skipped exon end: 46128076
	Mutation start: 46128036
	Mutation end: 46128036
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.L408fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_319638
	Skipped exon start: 46136119
	Skipped exon end: 46136397
	Mutation start: 46136160
	Mutation end: 46136160
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.V304fs
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exon_skip_498631_LIHC_TCGA-DD-A1EG-01.png
exon_skip_499018_LIHC_TCGA-DD-A1EG-01.png
exon_skip_501551_LIHC_TCGA-DD-A1EG-01.png
exon_skip_503330_LIHC_TCGA-DD-A1EG-01.png
exon_skip_503777_LIHC_TCGA-DD-A1EG-01.png
exon_skip_504288_LIHC_TCGA-DD-A1EG-01.png
exon_skip_5044_LIHC_TCGA-DD-A1EG-01.png
exon_skip_506320_LIHC_TCGA-DD-A1EG-01.png
exon_skip_507513_LIHC_TCGA-DD-A1EG-01.png
exon_skip_508970_LIHC_TCGA-DD-A1EG-01.png
exon_skip_510119_LIHC_TCGA-DD-A1EG-01.png
exon_skip_512244_LIHC_TCGA-DD-A1EG-01.png
exon_skip_512530_LIHC_TCGA-DD-A1EG-01.png
exon_skip_513207_LIHC_TCGA-DD-A1EG-01.png
exon_skip_513240_LIHC_TCGA-DD-A1EG-01.png
exon_skip_514990_LIHC_TCGA-DD-A1EG-01.png
exon_skip_516934_LIHC_TCGA-DD-A1EG-01.png
exon_skip_517296_LIHC_TCGA-DD-A1EG-01.png
exon_skip_517308_LIHC_TCGA-DD-A1EG-01.png
exon_skip_52417_LIHC_TCGA-DD-A1EG-01.png
exon_skip_54123_LIHC_TCGA-DD-A1EG-01.png
exon_skip_54476_LIHC_TCGA-DD-A1EG-01.png
exon_skip_56470_LIHC_TCGA-DD-A1EG-01.png
exon_skip_57633_LIHC_TCGA-DD-A1EG-01.png
exon_skip_57892_LIHC_TCGA-DD-A1EG-01.png
exon_skip_57897_LIHC_TCGA-DD-A1EG-01.png
exon_skip_58035_LIHC_TCGA-DD-A1EG-01.png
exon_skip_5818_LIHC_TCGA-DD-A1EG-01.png
exon_skip_58444_LIHC_TCGA-DD-A1EG-01.png
exon_skip_58894_LIHC_TCGA-DD-A1EG-01.png
exon_skip_59424_LIHC_TCGA-DD-A1EG-01.png
exon_skip_59476_LIHC_TCGA-DD-A1EG-01.png
exon_skip_59654_LIHC_TCGA-DD-A1EG-01.png
exon_skip_60187_LIHC_TCGA-DD-A1EG-01.png
exon_skip_60189_LIHC_TCGA-DD-A1EG-01.png
exon_skip_62322_LIHC_TCGA-DD-A1EG-01.png
exon_skip_63747_LIHC_TCGA-DD-A1EG-01.png
exon_skip_66185_LIHC_TCGA-DD-A1EG-01.png
exon_skip_66376_LIHC_TCGA-DD-A1EG-01.png
exon_skip_66813_LIHC_TCGA-DD-A1EG-01.png
exon_skip_67402_LIHC_TCGA-DD-A1EG-01.png
exon_skip_67594_LIHC_TCGA-DD-A1EG-01.png
exon_skip_67918_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68288_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68407_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68411_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68522_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68768_LIHC_TCGA-DD-A1EG-01.png
exon_skip_69056_LIHC_TCGA-DD-A1EG-01.png
exon_skip_70050_LIHC_TCGA-DD-A1EG-01.png
exon_skip_71400_LIHC_TCGA-DD-A1EG-01.png
exon_skip_77097_LIHC_TCGA-DD-A1EG-01.png
exon_skip_79815_LIHC_TCGA-DD-A1EG-01.png
exon_skip_81531_LIHC_TCGA-DD-A1EG-01.png
exon_skip_81532_LIHC_TCGA-DD-A1EG-01.png
exon_skip_822_LIHC_TCGA-DD-A1EG-01.png
exon_skip_82890_LIHC_TCGA-DD-A1EG-01.png
exon_skip_84090_LIHC_TCGA-DD-A1EG-01.png
exon_skip_86135_LIHC_TCGA-DD-A1EG-01.png
exon_skip_87721_LIHC_TCGA-DD-A1EG-01.png
exon_skip_87_LIHC_TCGA-DD-A1EG-01.png
exon_skip_93888_LIHC_TCGA-DD-A1EG-01.png
exon_skip_93891_LIHC_TCGA-DD-A1EG-01.png
exon_skip_94866_LIHC_TCGA-DD-A1EG-01.png
exon_skip_96939_LIHC_TCGA-DD-A1EG-01.png
exon_skip_9694_LIHC_TCGA-DD-A1EG-01.png
exon_skip_97667_LIHC_TCGA-DD-A1EG-01.png
exon_skip_98055_LIHC_TCGA-DD-A1EG-01.png
exon_skip_98056_LIHC_TCGA-DD-A1EG-01.png
exon_skip_99140_LIHC_TCGA-DD-A1EG-01.png
	Sample: TCGA-D1-A174-01
	Cancer type: UCEC
	ESID: exon_skip_319623
	Skipped exon start: 46127977
	Skipped exon end: 46128076
	Mutation start: 46127999
	Mutation end: 46127999
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.G474fs
exon_skip_285849_UCEC_TCGA-D1-A174-01.png
exon_skip_300924_UCEC_TCGA-D1-A174-01.png
exon_skip_307326_UCEC_TCGA-D1-A174-01.png
exon_skip_313700_UCEC_TCGA-D1-A174-01.png
exon_skip_319623_UCEC_TCGA-D1-A174-01.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
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46124741	46124895	46124799	46124799	Frame_Shift_Del	C	-	p.G313fs
GP2D_LARGE_INTESTINE	46129963	46130097	46129994	46129994	Frame_Shift_Del	C	-	p.G237fs
EN_ENDOMETRIUM	46129963	46130097	46129994	46129994	Frame_Shift_Del	C	-	p.G237fs
GP5D_LARGE_INTESTINE	46129963	46130097	46129994	46129994	Frame_Shift_Del	C	-	p.G237fs
EN_ENDOMETRIUM	46124741	46124895	46124798	46124799	Frame_Shift_Ins	-	C	p.G313fs
C33A_CERVIX	46119719	46119816	46119741	46119741	Missense_Mutation	A	G	p.V496A
SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46119719	46119816	46119807	46119807	Missense_Mutation	T	A	p.Y474F
HEC59_ENDOMETRIUM	46119719	46119816	46119814	46119814	Missense_Mutation	C	T	p.G472R
T98G_CENTRAL_NERVOUS_SYSTEM	46120888	46120955	46120903	46120903	Missense_Mutation	C	A	p.G436V
JHU029_UPPER_AERODIGESTIVE_TRACT	46120888	46120955	46120921	46120921	Missense_Mutation	C	G	p.G430A
HEC151_ENDOMETRIUM	46120888	46120955	46120946	46120946	Missense_Mutation	G	T	p.R422S
HGC27_STOMACH	46122318	46122449	46122341	46122341	Missense_Mutation	G	T	p.P411T
CCK81_LARGE_INTESTINE	46122318	46122449	46122341	46122341	Missense_Mutation	G	T	p.P411T
GP2D_LARGE_INTESTINE	46124465	46124590	46124521	46124521	Missense_Mutation	T	C	p.T356A
GP5D_LARGE_INTESTINE	46124465	46124590	46124521	46124521	Missense_Mutation	T	C	p.T356A
CW2_LARGE_INTESTINE	46124741	46124895	46124788	46124788	Missense_Mutation	G	A	p.R317W
HCC1500_BREAST	46124741	46124895	46124827	46124827	Missense_Mutation	G	A	p.R304W
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46124741	46124895	46124839	46124839	Missense_Mutation	G	T	p.L300I
C33A_CERVIX	46124741	46124895	46124863	46124863	Missense_Mutation	C	T	p.A292T
NCIH748_LUNG	46127977	46128076	46128016	46128016	Missense_Mutation	T	A	p.T268S
HEC108_ENDOMETRIUM	46127977	46128076	46128057	46128057	Missense_Mutation	T	A	p.Y254F
SKGIIIA_CERVIX	46129963	46130097	46129987	46129987	Missense_Mutation	C	G	p.L239F
G401_SOFT_TISSUE	46129963	46130097	46130025	46130025	Missense_Mutation	A	G	p.S227P
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46129963	46130097	46130037	46130037	Missense_Mutation	T	C	p.T223A
SNU1197_LARGE_INTESTINE	46136119	46136397	46136132	46136132	Missense_Mutation	C	T	p.G166D
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46136119	46136397	46136168	46136168	Missense_Mutation	C	T	p.G154D
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46136119	46136397	46136222	46136222	Missense_Mutation	G	A	p.P136L

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EML2

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 EML2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EML2

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RelatedDrugs for EML2

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 EML2

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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