ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ECI2

Gene summary

Gene information	Gene symbol	ECI2
	Gene ID	10455
	Gene name	enoyl-CoA delta isomerase 2
	Synonyms	ACBD2\|DRS-1\|DRS1\|HCA88\|PECI\|dJ1013A10.3
	Cytomap	6p25.2
	Type of gene	protein-coding
	Description	enoyl-CoA delta isomerase 2, mitochondrialD3,D2-enoyl-CoA isomeraseDBI-related protein 1acyl-Coenzyme A binding domain containing 2delta(3),delta(2)-enoyl-CoA isomerasediazepam-binding inhibitor-related protein 1dodecenoyl-CoA isomerasehepatocellul
	Modification date	20180522
	UniProtAcc	O75521
	Context	PubMed: ECI2 [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 ECI2 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 ECI2

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 ECI2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_455936	6	4115941:4116263:4117541:4117685:4119419:4119509	4117541:4117685	ENSG00000198721.8	ENST00000465828.1,ENST00000380120.2,ENST00000478266.2,ENST00000496241.2,ENST00000413766.2,ENST00000361538.2,ENST00000380125.2,ENST00000380118.3,ENST00000464057.1
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENSG00000198721.8	ENST00000464583.1
exon_skip_455945	6	4117541:4117685:4119419:4119509:4125483:4125604	4119419:4119509	ENSG00000198721.8	ENST00000465828.1,ENST00000380120.2,ENST00000496241.2,ENST00000413766.2,ENST00000361538.2,ENST00000380125.2,ENST00000380118.3,ENST00000464057.1
exon_skip_455947	6	4117541:4117685:4119419:4119509:4127995:4128065	4119419:4119509	ENSG00000198721.8	ENST00000478266.2
exon_skip_455954	6	4119419:4119509:4125483:4125604:4126368:4126471	4125483:4125604	ENSG00000198721.8	ENST00000465828.1,ENST00000380120.2,ENST00000496241.2,ENST00000413766.2,ENST00000361538.2,ENST00000380125.2,ENST00000380118.3
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENSG00000198721.8	ENST00000464583.1,ENST00000464057.1
exon_skip_455960	6	4125483:4125604:4126368:4126471:4127995:4128065	4126368:4126471	ENSG00000198721.8	ENST00000465828.1,ENST00000380120.2,ENST00000496241.2,ENST00000413766.2,ENST00000361538.2,ENST00000380125.2,ENST00000380118.3
exon_skip_455961	6	4128047:4128065:4130412:4130483:4130605:4130794	4130412:4130483	ENSG00000198721.8	ENST00000496241.2
exon_skip_455962	6	4128047:4128065:4130605:4130794:4131000:4131099	4130605:4130794	ENSG00000198721.8	ENST00000465828.1,ENST00000495548.1,ENST00000464583.1,ENST00000478266.2,ENST00000413766.2,ENST00000361538.2,ENST00000380125.2,ENST00000380118.3,ENST00000464057.1
exon_skip_455963	6	4128047:4128065:4130605:4130876:4131000:4131099	4130605:4130876	ENSG00000198721.8	ENST00000380120.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ECI2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_455936	6	4115941:4116263:4117541:4117685:4119419:4119509	4117541:4117685	ENSG00000198721.8	ENST00000380118.3,ENST00000380125.2,ENST00000413766.2,ENST00000496241.2,ENST00000380120.2,ENST00000478266.2,ENST00000464057.1,ENST00000361538.2,ENST00000465828.1
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENSG00000198721.8	ENST00000464583.1
exon_skip_455945	6	4117541:4117685:4119419:4119509:4125483:4125604	4119419:4119509	ENSG00000198721.8	ENST00000380118.3,ENST00000380125.2,ENST00000413766.2,ENST00000496241.2,ENST00000380120.2,ENST00000464057.1,ENST00000361538.2,ENST00000465828.1
exon_skip_455947	6	4117541:4117685:4119419:4119509:4127995:4128065	4119419:4119509	ENSG00000198721.8	ENST00000478266.2
exon_skip_455954	6	4119419:4119509:4125483:4125604:4126368:4126471	4125483:4125604	ENSG00000198721.8	ENST00000380118.3,ENST00000380125.2,ENST00000413766.2,ENST00000496241.2,ENST00000380120.2,ENST00000361538.2,ENST00000465828.1
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENSG00000198721.8	ENST00000464057.1,ENST00000464583.1
exon_skip_455960	6	4125483:4125604:4126368:4126471:4127995:4128065	4126368:4126471	ENSG00000198721.8	ENST00000380118.3,ENST00000380125.2,ENST00000413766.2,ENST00000496241.2,ENST00000380120.2,ENST00000361538.2,ENST00000465828.1
exon_skip_455961	6	4128047:4128065:4130412:4130483:4130605:4130794	4130412:4130483	ENSG00000198721.8	ENST00000496241.2
exon_skip_455962	6	4128047:4128065:4130605:4130794:4131000:4131099	4130605:4130794	ENSG00000198721.8	ENST00000380118.3,ENST00000380125.2,ENST00000413766.2,ENST00000478266.2,ENST00000464057.1,ENST00000361538.2,ENST00000465828.1,ENST00000464583.1,ENST00000495548.1
exon_skip_455963	6	4128047:4128065:4130605:4130876:4131000:4131099	4130605:4130876	ENSG00000198721.8	ENST00000380120.2

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 ECI2

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
ENST00000380118	4125483	4125604	Frame-shift
ENST00000380118	4126368	4126471	Frame-shift
ENST00000380118	4117541	4117685	In-frame
ENST00000380118	4119419	4119509	In-frame
ENST00000380118	4130605	4130794	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
ENST00000380118	4125483	4125604	Frame-shift
ENST00000380118	4126368	4126471	Frame-shift
ENST00000380118	4117541	4117685	In-frame
ENST00000380118	4119419	4119509	In-frame
ENST00000380118	4130605	4130794	In-frame

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Infer the effects of exon skipping event on protein functional features for ECI2

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
ENST00000380118	1424	394	4130605	4130794	350	538	104	167
ENST00000380118	1424	394	4119419	4119509	833	922	265	295
ENST00000380118	1424	394	4117541	4117685	923	1066	295	343

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
ENST00000380118	1424	394	4130605	4130794	350	538	104	167
ENST00000380118	1424	394	4119419	4119509	833	922	265	295
ENST00000380118	1424	394	4117541	4117685	923	1066	295	343

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

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

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SNVs in the skipped exons for ECI2

- 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.

ECI2_KIRC_exon_skip_455940_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
KIRC	TCGA-CW-5587-01	exon_skip_455936	4117542	4117685	4117609	4117609	Frame_Shift_Del	A	-	p.F321fs
KIRC	TCGA-CW-5587-01	exon_skip_455940	4117542	4119509	4117609	4117609	Frame_Shift_Del	A	-	p.F321fs
LIHC	TCGA-DD-A3A0-01	exon_skip_455962	4130606	4130794	4130628	4130628	Frame_Shift_Del	T	-	p.K131fs
LIHC	TCGA-DD-A3A0-01	exon_skip_455963	4130606	4130876	4130628	4130628	Frame_Shift_Del	T	-	p.K131fs
BLCA	TCGA-DK-A2I2-01	exon_skip_455936	4117542	4117685	4117578	4117578	Nonsense_Mutation	C	T	p.W301*
BLCA	TCGA-DK-A2I2-01	exon_skip_455940	4117542	4119509	4117578	4117578	Nonsense_Mutation	C	T	p.W301*
LUAD	TCGA-95-7043-01	exon_skip_455954	4125484	4125604	4125573	4125573	Nonsense_Mutation	T	A	p.K206*
LUAD	TCGA-95-7043-01	exon_skip_455956	4125484	4126471	4125573	4125573	Nonsense_Mutation	T	A	p.K206*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CW-5587-01
	Cancer type: KIRC
	ESID: exon_skip_455936
	Skipped exon start: 4117542
	Skipped exon end: 4117685
	Mutation start: 4117609
	Mutation end: 4117609
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.F321fs
	Sample: TCGA-CW-5587-01
	Cancer type: KIRC
	ESID: exon_skip_455940
	Skipped exon start: 4117542
	Skipped exon end: 4119509
	Mutation start: 4117609
	Mutation end: 4117609
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.F321fs
exon_skip_35928_KIRC_TCGA-CW-5587-01.png
exon_skip_455940_KIRC_TCGA-CW-5587-01.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
SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	4117542	4117685	4117571	4117571	Missense_Mutation	G	T	p.L334M
SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	4117542	4119509	4117571	4117571	Missense_Mutation	G	T	p.L334M
CAL148_BREAST	4117542	4117685	4117604	4117604	Missense_Mutation	C	G	p.D323H
CAL148_BREAST	4117542	4119509	4117604	4117604	Missense_Mutation	C	G	p.D323H
MYLA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	4117542	4117685	4117613	4117613	Missense_Mutation	C	T	p.V320I
MYLA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	4117542	4119509	4117613	4117613	Missense_Mutation	C	T	p.V320I
HS611T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	4119420	4119509	4119442	4119442	Missense_Mutation	G	A	p.P288L
HS611T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	4117542	4119509	4119442	4119442	Missense_Mutation	G	A	p.P288L
IGROV1_OVARY	4125484	4125604	4125501	4125501	Missense_Mutation	C	T	p.V260M
IGROV1_OVARY	4125484	4126471	4125501	4125501	Missense_Mutation	C	T	p.V260M
DL40_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	4125484	4125604	4125528	4125528	Missense_Mutation	C	T	p.V251I
DL40_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	4125484	4126471	4125528	4125528	Missense_Mutation	C	T	p.V251I
SKN3_UPPER_AERODIGESTIVE_TRACT	4125484	4125604	4125551	4125551	Missense_Mutation	T	C	p.N243S
SKN3_UPPER_AERODIGESTIVE_TRACT	4125484	4126471	4125551	4125551	Missense_Mutation	T	C	p.N243S
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	4125484	4125604	4125564	4125564	Missense_Mutation	T	C	p.I239V
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	4125484	4126471	4125564	4125564	Missense_Mutation	T	C	p.I239V
KYSE220_OESOPHAGUS	4126369	4126471	4126435	4126435	Missense_Mutation	G	C	p.T203S
KYSE220_OESOPHAGUS	4125484	4126471	4126435	4126435	Missense_Mutation	G	C	p.T203S
LC41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	4126369	4126471	4126435	4126435	Missense_Mutation	G	C	p.T203S
LC41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	4125484	4126471	4126435	4126435	Missense_Mutation	G	C	p.T203S
RERFLCSQ1_LUNG	4126369	4126471	4126435	4126435	Missense_Mutation	G	C	p.T203S
RERFLCSQ1_LUNG	4125484	4126471	4126435	4126435	Missense_Mutation	G	C	p.T203S
TEN_ENDOMETRIUM	4126369	4126471	4126452	4126452	Missense_Mutation	A	T	p.S197R
TEN_ENDOMETRIUM	4125484	4126471	4126452	4126452	Missense_Mutation	A	T	p.S197R
WM88_SKIN	4130606	4130794	4130700	4130700	Missense_Mutation	G	A	p.S136L
WM88_SKIN	4130606	4130876	4130700	4130700	Missense_Mutation	G	A	p.S136L
FTC133_THYROID	4130606	4130794	4130776	4130776	Missense_Mutation	A	G	p.Y111H
FTC133_THYROID	4130606	4130876	4130776	4130776	Missense_Mutation	A	G	p.Y111H
EN_ENDOMETRIUM	4130606	4130794	4130791	4130791	Missense_Mutation	C	T	p.A106T
EN_ENDOMETRIUM	4130606	4130876	4130791	4130791	Missense_Mutation	C	T	p.A106T

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ECI2

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_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	GBM	rs661404	chr6:4126097	C/T	3.94e-07
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	GBM	rs659305	chr6:4125655	A/G	4.44e-05
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	GBM	rs660560	chr6:4125941	A/G	7.03e-05
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	COAD	rs661404	chr6:4126097	C/T	3.71e-04
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	HNSC	rs661404	chr6:4126097	C/T	1.18e-03
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	BRCA	rs659305	chr6:4125655	A/G	1.06e-09
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	BRCA	rs660560	chr6:4125941	A/G	2.18e-08
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	KIRP	rs659305	chr6:4125655	A/G	9.48e-04
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	KIRP	rs661404	chr6:4126097	C/T	1.22e-03
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	LGG	rs660560	chr6:4125941	A/G	4.12e-04
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	LGG	rs659305	chr6:4125655	A/G	4.98e-04
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	KIRC	rs661404	chr6:4126097	C/T	3.11e-04
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	LUAD	rs660560	chr6:4125941	A/G	1.84e-03
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	LIHC	rs660560	chr6:4125941	A/G	1.25e-03
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	LIHC	rs659305	chr6:4125655	A/G	1.65e-03
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	LUSC	rs661404	chr6:4126097	C/T	5.16e-04
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	PRAD	rs659305	chr6:4125655	A/G	2.06e-06
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	PRAD	rs660560	chr6:4125941	A/G	5.27e-06
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	STAD	rs661404	chr6:4126097	C/T	3.23e-04
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	THCA	rs659305	chr6:4125655	A/G	5.61e-06
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	THCA	rs660560	chr6:4125941	A/G	1.58e-05
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	THCA	rs661404	chr6:4126097	C/T	1.17e-04
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	THCA	rs659305	chr6:4125655	A/G	2.46e-04
exon_skip_455956	6	4119419:4119509:4125483:4126471:4127995:4128065	4125483:4126471	ENST00000464583.1,ENST00000464057.1	THCA	rs660560	chr6:4125941	A/G	1.35e-03
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	GBM	rs2326407	chr6:4118414	G/A	1.97e-09
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	GBM	rs659025	chr6:4119051	C/T	2.21e-05
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	GBM	rs584585	chr6:4118789	C/T	2.31e-05
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	GBM	rs2783073	chr6:4118674	T/C	3.29e-05
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	GBM	rs9503919	chr6:4118984	T/G	2.15e-04
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	GBM	rs71553907	chr6:4118979	C/T	2.92e-04
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	GBM	rs2326407	chr6:4118414	G/A	4.70e-04
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	GBM	rs2326407	chr6:4118414	G/A	6.57e-04
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	COAD	rs2326407	chr6:4118414	G/A	2.14e-16
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	COAD	rs71553907	chr6:4118979	C/T	1.64e-03
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	BLCA	rs2326407	chr6:4118414	G/A	3.53e-07
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	ESCA	rs2326407	chr6:4118414	G/A	1.71e-08
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	HNSC	rs2326407	chr6:4118414	G/A	2.51e-20
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	HNSC	rs584585	chr6:4118789	C/T	1.32e-03
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	HNSC	rs9503919	chr6:4118984	T/G	1.78e-03
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	BRCA	rs584585	chr6:4118789	C/T	1.01e-10
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	BRCA	rs659025	chr6:4119051	C/T	1.75e-10
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	BRCA	rs2783073	chr6:4118674	T/C	6.11e-10
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	KIRP	rs2326407	chr6:4118414	G/A	1.65e-13
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	KIRP	rs9503919	chr6:4118984	T/G	1.64e-03
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	LGG	rs2326407	chr6:4118414	G/A	1.69e-20
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	LGG	rs9503919	chr6:4118984	T/G	1.48e-05
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	LGG	rs71553907	chr6:4118979	C/T	7.36e-05
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	LGG	rs2783073	chr6:4118674	T/C	1.44e-04
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	LGG	rs584585	chr6:4118789	C/T	2.83e-04
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	LGG	rs659025	chr6:4119051	C/T	4.51e-04
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	KIRC	rs2326407	chr6:4118414	G/A	1.46e-21
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	KIRC	rs584585	chr6:4118789	C/T	2.19e-04
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	KIRC	rs9503919	chr6:4118984	T/G	9.31e-04
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	KIRC	rs71553907	chr6:4118979	C/T	1.36e-03
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	KIRC	rs2783073	chr6:4118674	T/C	1.52e-03
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	KIRC	rs659025	chr6:4119051	C/T	2.36e-03
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	LUAD	rs2326407	chr6:4118414	G/A	2.87e-16
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	LUAD	rs2783073	chr6:4118674	T/C	1.90e-03
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	LUAD	rs71553907	chr6:4118979	C/T	2.28e-03
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	LUAD	rs9503919	chr6:4118984	T/G	2.72e-03
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	LIHC	rs2326407	chr6:4118414	G/A	1.02e-06
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	LIHC	rs9503919	chr6:4118984	T/G	2.82e-05
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	LIHC	rs71553907	chr6:4118979	C/T	7.16e-05
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	LUSC	rs2326407	chr6:4118414	G/A	5.06e-21
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	PCPG	rs2326407	chr6:4118414	G/A	3.20e-09
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	PAAD	rs2326407	chr6:4118414	G/A	9.92e-08
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	PAAD	rs9503919	chr6:4118984	T/G	1.69e-04
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	PAAD	rs71553907	chr6:4118979	C/T	2.88e-04
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	PRAD	rs2326407	chr6:4118414	G/A	3.17e-30
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	PRAD	rs9503919	chr6:4118984	T/G	4.90e-07
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	PRAD	rs2783073	chr6:4118674	T/C	1.30e-06
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	PRAD	rs659025	chr6:4119051	C/T	1.46e-06
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	PRAD	rs584585	chr6:4118789	C/T	2.17e-06
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	PRAD	rs71553907	chr6:4118979	C/T	1.26e-05
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	PRAD	rs2326407	chr6:4118414	G/A	1.97e-04
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	SARC	rs2326407	chr6:4118414	G/A	1.86e-08
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	TGCT	rs2326407	chr6:4118414	G/A	1.00e-03
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	SKCM	rs2326407	chr6:4118414	G/A	2.73e-08
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	STAD	rs2326407	chr6:4118414	G/A	2.77e-11
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	THCA	rs2326407	chr6:4118414	G/A	3.15e-21
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	THCA	rs2783073	chr6:4118674	T/C	1.85e-06
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	THCA	rs659025	chr6:4119051	C/T	2.90e-06
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	THCA	rs584585	chr6:4118789	C/T	5.92e-06
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	THCA	rs9503919	chr6:4118984	T/G	6.76e-05
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	THCA	rs584585	chr6:4118789	C/T	1.12e-04
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	THCA	rs2783073	chr6:4118674	T/C	2.15e-04
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	THCA	rs659025	chr6:4119051	C/T	2.76e-04
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	THCA	rs9503919	chr6:4118984	T/G	4.83e-04
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	THCA	rs71553907	chr6:4118979	C/T	9.47e-04
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	THCA	rs71553907	chr6:4118979	C/T	1.63e-03
exon_skip_455940	6	4115941:4116263:4117541:4119509:4125483:4125604	4117541:4119509	ENST00000464583.1	UVM	rs2326407	chr6:4118414	G/A	6.19e-06

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ECI2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ECI2

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RelatedDrugs for ECI2

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 ECI2

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 ECI2

Exon skipping events across known transcript of Ensembl for ECI2 from UCSC genome browser

Gene isoform structures and expression levels for ECI2

Exon skipping events with PSIs in TCGA for ECI2

Exon skipping events with PSIs in GTEx for ECI2

Open reading frame (ORF) annotation in the exon skipping event for ECI2

Infer the effects of exon skipping event on protein functional features for ECI2

SNVs in the skipped exons for ECI2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ECI2

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ECI2

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ECI2

RelatedDrugs for ECI2

RelatedDiseases for ECI2