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	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

Gene summary for ECHDC2

Gene summary

Gene information	Gene symbol	ECHDC2
	Gene ID	55268
	Gene name	enoyl-CoA hydratase domain containing 2
	Synonyms	-
	Cytomap	1p32.3
	Type of gene	protein-coding
	Description	enoyl-CoA hydratase domain-containing protein 2, mitochondrialenoyl Coenzyme A hydratase domain containing 2
	Modification date	20180523
	UniProtAcc	Q86YB7
	Context	PubMed: ECHDC2 [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 ECHDC2 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 ECHDC2

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 ECHDC2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_26948	1	53362219:53362269:53363108:53363156:53364845:53364896	53363108:53363156	ENSG00000121310.12	ENST00000371520.1,ENST00000536120.1,ENST00000543419.1,ENST00000479593.1,ENST00000358358.5,ENST00000463923.1,ENST00000498544.1,ENST00000476477.2,ENST00000371522.4
exon_skip_26958	1	53362219:53362269:53363108:53364896:53370317:53370505	53363108:53364896	ENSG00000121310.12	ENST00000479183.2
exon_skip_26970	1	53362219:53362269:53364845:53364896:53370317:53370505	53364845:53364896	ENSG00000121310.12	ENST00000460612.1
exon_skip_26992	1	53363108:53363156:53364845:53364896:53370317:53370505	53364845:53364896	ENSG00000121310.12	ENST00000371520.1,ENST00000536120.1,ENST00000479593.1,ENST00000358358.5,ENST00000498544.1,ENST00000476477.2,ENST00000371522.4
exon_skip_26994	1	53363108:53363156:53364845:53364896:53373539:53373626	53364845:53364896	ENSG00000121310.12	ENST00000463923.1
exon_skip_26995	1	53363108:53363156:53364845:53364896:53377237:53377325	53364845:53364896	ENSG00000121310.12	ENST00000543419.1
exon_skip_27021	1	53364848:53364896:53373539:53373626:53377237:53377325	53373539:53373626	ENSG00000121310.12	ENST00000463923.1
exon_skip_27027	1	53370460:53370505:53370705:53370762:53372190:53372283	53370705:53370762	ENSG00000121310.12	ENST00000487866.1,ENST00000486170.2,ENST00000536120.1,ENST00000479593.1,ENST00000476477.2,ENST00000371522.4
exon_skip_27028	1	53370460:53370505:53370705:53370762:53373539:53373626	53370705:53370762	ENSG00000121310.12	ENST00000467988.1,ENST00000371520.1,ENST00000358358.5
exon_skip_27038	1	53370460:53370505:53370705:53372283:53373539:53373626	53370705:53372283	ENSG00000121310.12	ENST00000460612.1
exon_skip_27048	1	53370460:53370505:53373539:53373626:53377237:53377325	53373539:53373626	ENSG00000121310.12	ENST00000487851.1
exon_skip_27065	1	53370705:53370762:53372190:53372283:53373539:53373626	53372190:53372283	ENSG00000121310.12	ENST00000487866.1,ENST00000536120.1,ENST00000479593.1,ENST00000476477.2,ENST00000371522.4
exon_skip_27068	1	53370705:53370762:53373539:53373626:53377237:53377325	53373539:53373626	ENSG00000121310.12	ENST00000467988.1,ENST00000371520.1,ENST00000358358.5
exon_skip_27086	1	53372190:53372283:53373539:53373626:53377237:53377325	53373539:53373626	ENSG00000121310.12	ENST00000487866.1,ENST00000541281.1,ENST00000536120.1,ENST00000479593.1,ENST00000460612.1,ENST00000476477.2,ENST00000371522.4
exon_skip_27088	1	53373539:53373626:53377237:53377325:53377394:53377462	53377237:53377325	ENSG00000121310.12	ENST00000487866.1,ENST00000541281.1,ENST00000467988.1,ENST00000492992.1,ENST00000544365.1,ENST00000488268.1,ENST00000371520.1,ENST00000536120.1,ENST00000479593.1,ENST00000358358.5,ENST00000495920.1,ENST00000460612.1,ENST00000476477.2,ENST00000371522.4,ENS
exon_skip_27103	1	53377394:53377462:53379566:53379767:53387069:53387187	53379566:53379767	ENSG00000121310.12	ENST00000544531.1
exon_skip_27106	1	53377394:53377462:53379566:53379767:53387224:53387376	53379566:53379767	ENSG00000121310.12	ENST00000541281.1,ENST00000544365.1
exon_skip_27112	1	53377394:53377693:53378425:53378521:53379566:53379602	53378425:53378521	ENSG00000121310.12	ENST00000480312.2
exon_skip_27126	1	53377394:53377693:53379566:53379767:53387154:53387204	53379566:53379767	ENSG00000121310.12	ENST00000371520.1
exon_skip_27132	1	53379566:53379767:53380802:53380964:53387224:53387591	53380802:53380964	ENSG00000121310.12	ENST00000536120.1,ENST00000476477.2
exon_skip_27140	1	53379566:53379767:53383215:53383287:53387224:53387376	53383215:53383287	ENSG00000121310.12	ENST00000542552.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ECHDC2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_26948	1	53362219:53362269:53363108:53363156:53364845:53364896	53363108:53363156	ENSG00000121310.12	ENST00000371522.4,ENST00000543419.1,ENST00000463923.1,ENST00000371520.1,ENST00000358358.5,ENST00000498544.1,ENST00000476477.2,ENST00000536120.1,ENST00000479593.1
exon_skip_26958	1	53362219:53362269:53363108:53364896:53370317:53370505	53363108:53364896	ENSG00000121310.12	ENST00000479183.2
exon_skip_26970	1	53362219:53362269:53364845:53364896:53370317:53370505	53364845:53364896	ENSG00000121310.12	ENST00000460612.1
exon_skip_26992	1	53363108:53363156:53364845:53364896:53370317:53370505	53364845:53364896	ENSG00000121310.12	ENST00000371522.4,ENST00000371520.1,ENST00000358358.5,ENST00000498544.1,ENST00000476477.2,ENST00000536120.1,ENST00000479593.1
exon_skip_26994	1	53363108:53363156:53364845:53364896:53373539:53373626	53364845:53364896	ENSG00000121310.12	ENST00000463923.1
exon_skip_26995	1	53363108:53363156:53364845:53364896:53377237:53377325	53364845:53364896	ENSG00000121310.12	ENST00000543419.1
exon_skip_27021	1	53364848:53364896:53373539:53373626:53377237:53377325	53373539:53373626	ENSG00000121310.12	ENST00000463923.1
exon_skip_27027	1	53370460:53370505:53370705:53370762:53372190:53372283	53370705:53370762	ENSG00000121310.12	ENST00000371522.4,ENST00000476477.2,ENST00000536120.1,ENST00000479593.1,ENST00000487866.1,ENST00000486170.2
exon_skip_27028	1	53370460:53370505:53370705:53370762:53373539:53373626	53370705:53370762	ENSG00000121310.12	ENST00000371520.1,ENST00000358358.5,ENST00000467988.1
exon_skip_27038	1	53370460:53370505:53370705:53372283:53373539:53373626	53370705:53372283	ENSG00000121310.12	ENST00000460612.1
exon_skip_27048	1	53370460:53370505:53373539:53373626:53377237:53377325	53373539:53373626	ENSG00000121310.12	ENST00000487851.1
exon_skip_27065	1	53370705:53370762:53372190:53372283:53373539:53373626	53372190:53372283	ENSG00000121310.12	ENST00000371522.4,ENST00000476477.2,ENST00000536120.1,ENST00000479593.1,ENST00000487866.1
exon_skip_27068	1	53370705:53370762:53373539:53373626:53377237:53377325	53373539:53373626	ENSG00000121310.12	ENST00000371520.1,ENST00000358358.5,ENST00000467988.1
exon_skip_27086	1	53372190:53372283:53373539:53373626:53377237:53377325	53373539:53373626	ENSG00000121310.12	ENST00000371522.4,ENST00000460612.1,ENST00000476477.2,ENST00000536120.1,ENST00000479593.1,ENST00000487866.1,ENST00000541281.1
exon_skip_27088	1	53373539:53373626:53377237:53377325:53377394:53377462	53377237:53377325	ENSG00000121310.12	ENST00000371522.4,ENST00000460612.1,ENST00000371520.1,ENST00000358358.5,ENST00000476477.2,ENST00000536120.1,ENST00000479593.1,ENST00000467988.1,ENST00000487866.1,ENST00000487851.1,ENST00000541281.1,ENST00000488268.1,ENST00000544365.1,ENST00000495920.1,ENS
exon_skip_27103	1	53377394:53377462:53379566:53379767:53387069:53387187	53379566:53379767	ENSG00000121310.12	ENST00000544531.1
exon_skip_27106	1	53377394:53377462:53379566:53379767:53387224:53387376	53379566:53379767	ENSG00000121310.12	ENST00000541281.1,ENST00000544365.1
exon_skip_27112	1	53377394:53377693:53378425:53378521:53379566:53379602	53378425:53378521	ENSG00000121310.12	ENST00000480312.2
exon_skip_27126	1	53377394:53377693:53379566:53379767:53387154:53387204	53379566:53379767	ENSG00000121310.12	ENST00000371520.1
exon_skip_27132	1	53379566:53379767:53380802:53380964:53387224:53387591	53380802:53380964	ENSG00000121310.12	ENST00000476477.2,ENST00000536120.1
exon_skip_27140	1	53379566:53379767:53383215:53383287:53387224:53387376	53383215:53383287	ENSG00000121310.12	ENST00000542552.1

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 ECHDC2

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
ENST00000371522	53377237	53377325	Frame-shift
ENST00000371522	53363108	53363156	In-frame
ENST00000371522	53364845	53364896	In-frame
ENST00000371522	53370705	53370762	In-frame
ENST00000371522	53372190	53372283	In-frame
ENST00000371522	53373539	53373626	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
ENST00000371522	53377237	53377325	Frame-shift
ENST00000371522	53363108	53363156	In-frame
ENST00000371522	53364845	53364896	In-frame
ENST00000371522	53370705	53370762	In-frame
ENST00000371522	53372190	53372283	In-frame
ENST00000371522	53373539	53373626	In-frame

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Infer the effects of exon skipping event on protein functional features for ECHDC2

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
ENST00000371522	1526	292	53373539	53373626	372	458	92	121
ENST00000371522	1526	292	53372190	53372283	459	551	121	152
ENST00000371522	1526	292	53370705	53370762	552	608	152	171
ENST00000371522	1526	292	53364845	53364896	797	847	234	251
ENST00000371522	1526	292	53363108	53363156	848	895	251	267

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
ENST00000371522	1526	292	53373539	53373626	372	458	92	121
ENST00000371522	1526	292	53372190	53372283	459	551	121	152
ENST00000371522	1526	292	53370705	53370762	552	608	152	171
ENST00000371522	1526	292	53364845	53364896	797	847	234	251
ENST00000371522	1526	292	53363108	53363156	848	895	251	267

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
Q86YB7	92	121	36	292	Chain	ID=PRO_0000309459;Note=Enoyl-CoA hydratase domain-containing protein 2%2C mitochondrial
Q86YB7	92	121	97	97	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3TLP5
Q86YB7	92	121	97	97	Modified residue	Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3TLP5
Q86YB7	92	121	119	119	Natural variant	ID=VAR_036951;Note=N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17854314,PMID:15489334
Q86YB7	121	152	122	152	Alternative sequence	ID=VSP_029177;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q86YB7	121	152	36	292	Chain	ID=PRO_0000309459;Note=Enoyl-CoA hydratase domain-containing protein 2%2C mitochondrial
Q86YB7	121	152	142	142	Site	Note=Important for catalytic activity;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q86YB7	152	171	122	152	Alternative sequence	ID=VSP_029177;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q86YB7	152	171	36	292	Chain	ID=PRO_0000309459;Note=Enoyl-CoA hydratase domain-containing protein 2%2C mitochondrial
Q86YB7	152	171	162	162	Site	Note=Important for catalytic activity;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q86YB7	234	251	36	292	Chain	ID=PRO_0000309459;Note=Enoyl-CoA hydratase domain-containing protein 2%2C mitochondrial
Q86YB7	234	251	247	247	Sequence conflict	Note=D->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q86YB7	251	267	36	292	Chain	ID=PRO_0000309459;Note=Enoyl-CoA hydratase domain-containing protein 2%2C mitochondrial

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
Q86YB7	92	121	36	292	Chain	ID=PRO_0000309459;Note=Enoyl-CoA hydratase domain-containing protein 2%2C mitochondrial
Q86YB7	92	121	97	97	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3TLP5
Q86YB7	92	121	97	97	Modified residue	Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3TLP5
Q86YB7	92	121	119	119	Natural variant	ID=VAR_036951;Note=N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17854314,PMID:15489334
Q86YB7	121	152	122	152	Alternative sequence	ID=VSP_029177;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q86YB7	121	152	36	292	Chain	ID=PRO_0000309459;Note=Enoyl-CoA hydratase domain-containing protein 2%2C mitochondrial
Q86YB7	121	152	142	142	Site	Note=Important for catalytic activity;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q86YB7	152	171	122	152	Alternative sequence	ID=VSP_029177;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q86YB7	152	171	36	292	Chain	ID=PRO_0000309459;Note=Enoyl-CoA hydratase domain-containing protein 2%2C mitochondrial
Q86YB7	152	171	162	162	Site	Note=Important for catalytic activity;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q86YB7	234	251	36	292	Chain	ID=PRO_0000309459;Note=Enoyl-CoA hydratase domain-containing protein 2%2C mitochondrial
Q86YB7	234	251	247	247	Sequence conflict	Note=D->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q86YB7	251	267	36	292	Chain	ID=PRO_0000309459;Note=Enoyl-CoA hydratase domain-containing protein 2%2C mitochondrial

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SNVs in the skipped exons for ECHDC2

- 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.

ECHDC2_BRCA_exon_skip_27038_psi_boxplot.png

ECHDC2_LIHC_exon_skip_26958_psi_boxplot.png

ECHDC2_LIHC_exon_skip_27038_psi_boxplot.png

ECHDC2_LIHC_exon_skip_27065_psi_boxplot.png

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A39Y-01	exon_skip_26958	53363109	53364896	53364891	53364891	Frame_Shift_Del	G	-	p.P190fs
LIHC	TCGA-DD-A39Y-01	exon_skip_26994 exon_skip_26970 exon_skip_26992 exon_skip_26995	53364846	53364896	53364891	53364891	Frame_Shift_Del	G	-	p.P190fs
LIHC	TCGA-DD-A39Y-01	exon_skip_27028 exon_skip_27027	53370706	53370762	53370714	53370714	Frame_Shift_Del	G	-	p.P123fs
LIHC	TCGA-DD-A39Y-01	exon_skip_27038	53370706	53372283	53370714	53370714	Frame_Shift_Del	G	-	p.P123fs
LIHC	TCGA-DD-A1EG-01	exon_skip_27038	53370706	53372283	53372235	53372235	Frame_Shift_Del	C	-	p.G94fs
LIHC	TCGA-DD-A1EG-01	exon_skip_27065	53372191	53372283	53372235	53372235	Frame_Shift_Del	C	-	p.G94fs
BRCA	TCGA-A2-A0YF-01	exon_skip_27028 exon_skip_27027	53370706	53370762	53370727	53370728	Frame_Shift_Ins	-	C	p.R133fs
BRCA	TCGA-A2-A0YF-01	exon_skip_27038	53370706	53372283	53370727	53370728	Frame_Shift_Ins	-	C	p.R133fs
UCEC	TCGA-BG-A18B-01	exon_skip_27028 exon_skip_27027	53370706	53370762	53370727	53370727	Nonsense_Mutation	G	A	p.R165*
UCEC	TCGA-BG-A18B-01	exon_skip_27038	53370706	53372283	53370727	53370727	Nonsense_Mutation	G	A	p.R165*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_27038
	Skipped exon start: 53370706
	Skipped exon end: 53372283
	Mutation start: 53372235
	Mutation end: 53372235
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.G94fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_27065
	Skipped exon start: 53372191
	Skipped exon end: 53372283
	Mutation start: 53372235
	Mutation end: 53372235
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.G94fs
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
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exon_skip_93891_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_99140_LIHC_TCGA-DD-A1EG-01.png
	Sample: TCGA-BG-A18B-01
	Cancer type: UCEC
	ESID: exon_skip_27027
	Skipped exon start: 53370706
	Skipped exon end: 53370762
	Mutation start: 53370727
	Mutation end: 53370727
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R165*
	Sample: TCGA-BG-A18B-01
	Cancer type: UCEC
	ESID: exon_skip_27038
	Skipped exon start: 53370706
	Skipped exon end: 53372283
	Mutation start: 53370727
	Mutation end: 53370727
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R165*
exon_skip_27038_UCEC_TCGA-BG-A18B-01.png
exon_skip_454085_UCEC_TCGA-BG-A18B-01.png
exon_skip_487634_UCEC_TCGA-BG-A18B-01.png
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_27038
	Skipped exon start: 53370706
	Skipped exon end: 53372283
	Mutation start: 53372235
	Mutation end: 53372235
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.G94fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_27065
	Skipped exon start: 53372191
	Skipped exon end: 53372283
	Mutation start: 53372235
	Mutation end: 53372235
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.G94fs
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	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_26958
	Skipped exon start: 53363109
	Skipped exon end: 53364896
	Mutation start: 53364891
	Mutation end: 53364891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P190fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_26995
	Skipped exon start: 53364846
	Skipped exon end: 53364896
	Mutation start: 53364891
	Mutation end: 53364891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P190fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_27027
	Skipped exon start: 53370706
	Skipped exon end: 53370762
	Mutation start: 53370714
	Mutation end: 53370714
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P123fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_27038
	Skipped exon start: 53370706
	Skipped exon end: 53372283
	Mutation start: 53370714
	Mutation end: 53370714
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P123fs
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	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_26958
	Skipped exon start: 53363109
	Skipped exon end: 53364896
	Mutation start: 53364891
	Mutation end: 53364891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P190fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_26995
	Skipped exon start: 53364846
	Skipped exon end: 53364896
	Mutation start: 53364891
	Mutation end: 53364891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P190fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_27027
	Skipped exon start: 53370706
	Skipped exon end: 53370762
	Mutation start: 53370714
	Mutation end: 53370714
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P123fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_27038
	Skipped exon start: 53370706
	Skipped exon end: 53372283
	Mutation start: 53370714
	Mutation end: 53370714
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P123fs
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exon_skip_459683_LIHC_TCGA-DD-A39Y-01.png
exon_skip_460515_LIHC_TCGA-DD-A39Y-01.png
exon_skip_463936_LIHC_TCGA-DD-A39Y-01.png
exon_skip_464994_LIHC_TCGA-DD-A39Y-01.png
exon_skip_465641_LIHC_TCGA-DD-A39Y-01.png
exon_skip_469364_LIHC_TCGA-DD-A39Y-01.png
exon_skip_470206_LIHC_TCGA-DD-A39Y-01.png
exon_skip_470208_LIHC_TCGA-DD-A39Y-01.png
exon_skip_470470_LIHC_TCGA-DD-A39Y-01.png
exon_skip_470485_LIHC_TCGA-DD-A39Y-01.png
exon_skip_471015_LIHC_TCGA-DD-A39Y-01.png
exon_skip_471018_LIHC_TCGA-DD-A39Y-01.png
exon_skip_471458_LIHC_TCGA-DD-A39Y-01.png
exon_skip_472524_LIHC_TCGA-DD-A39Y-01.png
exon_skip_472955_LIHC_TCGA-DD-A39Y-01.png
exon_skip_475132_LIHC_TCGA-DD-A39Y-01.png
exon_skip_47552_LIHC_TCGA-DD-A39Y-01.png
exon_skip_476535_LIHC_TCGA-DD-A39Y-01.png
exon_skip_477211_LIHC_TCGA-DD-A39Y-01.png
exon_skip_477637_LIHC_TCGA-DD-A39Y-01.png
exon_skip_478117_LIHC_TCGA-DD-A39Y-01.png
exon_skip_47838_LIHC_TCGA-DD-A39Y-01.png
exon_skip_478401_LIHC_TCGA-DD-A39Y-01.png
exon_skip_478926_LIHC_TCGA-DD-A39Y-01.png
exon_skip_483792_LIHC_TCGA-DD-A39Y-01.png
exon_skip_487634_LIHC_TCGA-DD-A39Y-01.png
exon_skip_489575_LIHC_TCGA-DD-A39Y-01.png
exon_skip_490603_LIHC_TCGA-DD-A39Y-01.png
exon_skip_491406_LIHC_TCGA-DD-A39Y-01.png
exon_skip_492075_LIHC_TCGA-DD-A39Y-01.png
exon_skip_492152_LIHC_TCGA-DD-A39Y-01.png
exon_skip_493904_LIHC_TCGA-DD-A39Y-01.png
exon_skip_493918_LIHC_TCGA-DD-A39Y-01.png
exon_skip_493920_LIHC_TCGA-DD-A39Y-01.png
exon_skip_494000_LIHC_TCGA-DD-A39Y-01.png
exon_skip_494030_LIHC_TCGA-DD-A39Y-01.png
exon_skip_494170_LIHC_TCGA-DD-A39Y-01.png
exon_skip_494284_LIHC_TCGA-DD-A39Y-01.png
exon_skip_499522_LIHC_TCGA-DD-A39Y-01.png
exon_skip_503301_LIHC_TCGA-DD-A39Y-01.png
exon_skip_503593_LIHC_TCGA-DD-A39Y-01.png
exon_skip_503665_LIHC_TCGA-DD-A39Y-01.png
exon_skip_504513_LIHC_TCGA-DD-A39Y-01.png
exon_skip_507316_LIHC_TCGA-DD-A39Y-01.png
exon_skip_507513_LIHC_TCGA-DD-A39Y-01.png
exon_skip_50803_LIHC_TCGA-DD-A39Y-01.png
exon_skip_50804_LIHC_TCGA-DD-A39Y-01.png
exon_skip_510119_LIHC_TCGA-DD-A39Y-01.png
exon_skip_512208_LIHC_TCGA-DD-A39Y-01.png
exon_skip_513207_LIHC_TCGA-DD-A39Y-01.png
exon_skip_513240_LIHC_TCGA-DD-A39Y-01.png
exon_skip_5141_LIHC_TCGA-DD-A39Y-01.png
exon_skip_52393_LIHC_TCGA-DD-A39Y-01.png
exon_skip_54542_LIHC_TCGA-DD-A39Y-01.png
exon_skip_55185_LIHC_TCGA-DD-A39Y-01.png
exon_skip_56398_LIHC_TCGA-DD-A39Y-01.png
exon_skip_56399_LIHC_TCGA-DD-A39Y-01.png
exon_skip_56834_LIHC_TCGA-DD-A39Y-01.png
exon_skip_58444_LIHC_TCGA-DD-A39Y-01.png
exon_skip_58452_LIHC_TCGA-DD-A39Y-01.png
exon_skip_5861_LIHC_TCGA-DD-A39Y-01.png
exon_skip_60290_LIHC_TCGA-DD-A39Y-01.png
exon_skip_60294_LIHC_TCGA-DD-A39Y-01.png
exon_skip_60561_LIHC_TCGA-DD-A39Y-01.png
exon_skip_61147_LIHC_TCGA-DD-A39Y-01.png
exon_skip_6331_LIHC_TCGA-DD-A39Y-01.png
exon_skip_6399_LIHC_TCGA-DD-A39Y-01.png
exon_skip_64652_LIHC_TCGA-DD-A39Y-01.png
exon_skip_64657_LIHC_TCGA-DD-A39Y-01.png
exon_skip_65996_LIHC_TCGA-DD-A39Y-01.png
exon_skip_66666_LIHC_TCGA-DD-A39Y-01.png
exon_skip_67549_LIHC_TCGA-DD-A39Y-01.png
exon_skip_68080_LIHC_TCGA-DD-A39Y-01.png
exon_skip_6817_LIHC_TCGA-DD-A39Y-01.png
exon_skip_69250_LIHC_TCGA-DD-A39Y-01.png
exon_skip_70509_LIHC_TCGA-DD-A39Y-01.png
exon_skip_71759_LIHC_TCGA-DD-A39Y-01.png
exon_skip_71774_LIHC_TCGA-DD-A39Y-01.png
exon_skip_73487_LIHC_TCGA-DD-A39Y-01.png
exon_skip_73796_LIHC_TCGA-DD-A39Y-01.png
exon_skip_74728_LIHC_TCGA-DD-A39Y-01.png
exon_skip_75089_LIHC_TCGA-DD-A39Y-01.png
exon_skip_75391_LIHC_TCGA-DD-A39Y-01.png
exon_skip_77962_LIHC_TCGA-DD-A39Y-01.png
exon_skip_78386_LIHC_TCGA-DD-A39Y-01.png
exon_skip_82069_LIHC_TCGA-DD-A39Y-01.png
exon_skip_82070_LIHC_TCGA-DD-A39Y-01.png
exon_skip_83493_LIHC_TCGA-DD-A39Y-01.png
exon_skip_83494_LIHC_TCGA-DD-A39Y-01.png
exon_skip_83512_LIHC_TCGA-DD-A39Y-01.png
exon_skip_83602_LIHC_TCGA-DD-A39Y-01.png
exon_skip_84090_LIHC_TCGA-DD-A39Y-01.png
exon_skip_84528_LIHC_TCGA-DD-A39Y-01.png
exon_skip_87720_LIHC_TCGA-DD-A39Y-01.png
exon_skip_87721_LIHC_TCGA-DD-A39Y-01.png
exon_skip_89597_LIHC_TCGA-DD-A39Y-01.png
exon_skip_93891_LIHC_TCGA-DD-A39Y-01.png
exon_skip_94842_LIHC_TCGA-DD-A39Y-01.png
exon_skip_94844_LIHC_TCGA-DD-A39Y-01.png
exon_skip_96282_LIHC_TCGA-DD-A39Y-01.png
exon_skip_96298_LIHC_TCGA-DD-A39Y-01.png
exon_skip_96557_LIHC_TCGA-DD-A39Y-01.png
exon_skip_96886_LIHC_TCGA-DD-A39Y-01.png
exon_skip_97738_LIHC_TCGA-DD-A39Y-01.png
exon_skip_97739_LIHC_TCGA-DD-A39Y-01.png
exon_skip_9807_LIHC_TCGA-DD-A39Y-01.png
exon_skip_98550_LIHC_TCGA-DD-A39Y-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
TOV21G_OVARY	53373540	53373626	53373578	53373579	Frame_Shift_Ins	-	C	p.V109fs
NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	53363109	53364896	53364889	53364889	Missense_Mutation	A	G	p.I237T
NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	53364846	53364896	53364889	53364889	Missense_Mutation	A	G	p.I237T
SNU1040_LARGE_INTESTINE	53363109	53364896	53364892	53364892	Missense_Mutation	G	T	p.P236H
SNU1040_LARGE_INTESTINE	53364846	53364896	53364892	53364892	Missense_Mutation	G	T	p.P236H
SKMEL2_SKIN	53370706	53370762	53370712	53370713	Missense_Mutation	CC	TT	p.G170R
SKMEL2_SKIN	53370706	53372283	53370712	53370713	Missense_Mutation	CC	TT	p.G170R
SKMEL2_SKIN	53370706	53370762	53370712	53370712	Missense_Mutation	C	T	p.G170R
SKMEL2_SKIN	53370706	53372283	53370712	53370712	Missense_Mutation	C	T	p.G170R
A549_LUNG	53370706	53372283	53372235	53372235	Missense_Mutation	C	T	p.G138D
A549_LUNG	53372191	53372283	53372235	53372235	Missense_Mutation	C	T	p.G138D
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	53377238	53377325	53377250	53377250	Missense_Mutation	C	T	p.V89M
SBC1_LUNG	53377238	53377325	53377265	53377265	Missense_Mutation	T	G	p.S84R
HEC6_ENDOMETRIUM	53377238	53377325	53377283	53377283	Missense_Mutation	G	A	p.R78C

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ECHDC2

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_26958	1	53362219:53362269:53363108:53364896:53370317:53370505	53363108:53364896	ENST00000479183.2	BLCA	rs495985	chr1:53364049	C/T	3.29e-04
exon_skip_26958	1	53362219:53362269:53363108:53364896:53370317:53370505	53363108:53364896	ENST00000479183.2	KIRC	rs495985	chr1:53364049	C/T	7.60e-08
exon_skip_26958	1	53362219:53362269:53363108:53364896:53370317:53370505	53363108:53364896	ENST00000479183.2	KIRC	rs495985	chr1:53364049	C/T	6.94e-04
exon_skip_26958	1	53362219:53362269:53363108:53364896:53370317:53370505	53363108:53364896	ENST00000479183.2	KIRC	rs495985	chr1:53364049	C/T	1.70e-03
exon_skip_26958	1	53362219:53362269:53363108:53364896:53370317:53370505	53363108:53364896	ENST00000479183.2	LUAD	rs495985	chr1:53364049	C/T	1.55e-05
exon_skip_26958	1	53362219:53362269:53363108:53364896:53370317:53370505	53363108:53364896	ENST00000479183.2	OV	rs495985	chr1:53364049	C/T	8.72e-05
exon_skip_26958	1	53362219:53362269:53363108:53364896:53370317:53370505	53363108:53364896	ENST00000479183.2	PRAD	rs495985	chr1:53364049	C/T	1.03e-09
exon_skip_26958	1	53362219:53362269:53363108:53364896:53370317:53370505	53363108:53364896	ENST00000479183.2	PRAD	rs495985	chr1:53364049	C/T	1.51e-05
exon_skip_26958	1	53362219:53362269:53363108:53364896:53370317:53370505	53363108:53364896	ENST00000479183.2	PRAD	rs495985	chr1:53364049	C/T	9.73e-04
exon_skip_26958	1	53362219:53362269:53363108:53364896:53370317:53370505	53363108:53364896	ENST00000479183.2	PRAD	rs495985	chr1:53364049	C/T	3.28e-03
exon_skip_26958	1	53362219:53362269:53363108:53364896:53370317:53370505	53363108:53364896	ENST00000479183.2	THCA	rs495985	chr1:53364049	C/T	5.47e-05
exon_skip_26958	1	53362219:53362269:53363108:53364896:53370317:53370505	53363108:53364896	ENST00000479183.2	THCA	rs495985	chr1:53364049	C/T	6.87e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ECHDC2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ECHDC2

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RelatedDrugs for ECHDC2

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 ECHDC2

Diseases associated with this gene. (DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

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