ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ERCC8

Gene summary

Gene information	Gene symbol	ERCC8
	Gene ID	1161
	Gene name	ERCC excision repair 8, CSA ubiquitin ligase complex subunit
	Synonyms	CKN1\|CSA\|UVSS2
	Cytomap	5q12.1
	Type of gene	protein-coding
	Description	DNA excision repair protein ERCC-8Cockayne syndrome WD-repeat protein CSAcockayne syndrome WD repeat protein CSAexcision repair cross-complementation group 8excision repair cross-complementing rodent repair deficiency, complementation group 8
	Modification date	20180519
	UniProtAcc	Q13216
	Context	PubMed: ERCC8 [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
ERCC8	GO:0000209	protein polyubiquitination	12732143
ERCC8	GO:0006283	transcription-coupled nucleotide-excision repair	12732143
ERCC8	GO:0006974	cellular response to DNA damage stimulus	11782547
ERCC8	GO:0006979	response to oxidative stress	11782547
ERCC8	GO:0009411	response to UV	12732143
ERCC8	GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	16751180
ERCC8	GO:0051865	protein autoubiquitination	12732143

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Exon skipping events across known transcript of Ensembl for ERCC8 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 ERCC8

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 ERCC8

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_442373	5	60170046:60170510:60183266:60183347:60186715:60186913	60183266:60183347	ENSG00000049167.9	ENST00000543101.1,ENST00000426742.2,ENST00000381118.3,ENST00000462279.1,ENST00000265038.5
exon_skip_442377	5	60183266:60183347:60186715:60186913:60194102:60194227	60186715:60186913	ENSG00000049167.9	ENST00000543101.1,ENST00000426742.2,ENST00000381118.3,ENST00000265038.5
exon_skip_442379	5	60186715:60186913:60187863:60189470:60194102:60194227	60187863:60189470	ENSG00000049167.9	ENST00000462279.1
exon_skip_442381	5	60198268:60198335:60199474:60199543:60214091:60214215	60199474:60199543	ENSG00000049167.9	ENST00000543101.1
exon_skip_442383	5	60199474:60199543:60200614:60200700:60214091:60214215	60200614:60200700	ENSG00000049167.9	ENST00000495985.1
exon_skip_442384	5	60199474:60199543:60200618:60200700:60214091:60214215	60200618:60200700	ENSG00000049167.9	ENST00000439176.1,ENST00000497892.1,ENST00000426742.2,ENST00000381118.3,ENST00000265038.5
exon_skip_442387	5	60214091:60214215:60217880:60217982:60224690:60224786	60217880:60217982	ENSG00000049167.9	ENST00000439176.1,ENST00000543101.1,ENST00000497892.1,ENST00000477893.1,ENST00000265038.5
exon_skip_442392	5	60217880:60217982:60220117:60220335:60224690:60224784	60220117:60220335	ENSG00000049167.9	ENST00000426742.2,ENST00000381118.3
exon_skip_442395	5	60217880:60217982:60224690:60224786:60240758:60240878	60224690:60224786	ENSG00000049167.9	ENST00000543101.1,ENST00000497892.1,ENST00000477893.1,ENST00000265038.5
exon_skip_442398	5	60224690:60224786:60227933:60227975:60240758:60240878	60227933:60227975	ENSG00000049167.9	ENST00000439176.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ERCC8

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_442373	5	60170046:60170510:60183266:60183347:60186715:60186913	60183266:60183347	ENSG00000049167.9	ENST00000381118.3,ENST00000426742.2,ENST00000265038.5,ENST00000462279.1,ENST00000543101.1
exon_skip_442377	5	60183266:60183347:60186715:60186913:60194102:60194227	60186715:60186913	ENSG00000049167.9	ENST00000381118.3,ENST00000426742.2,ENST00000265038.5,ENST00000543101.1
exon_skip_442379	5	60186715:60186913:60187863:60189470:60194102:60194227	60187863:60189470	ENSG00000049167.9	ENST00000462279.1
exon_skip_442381	5	60198268:60198335:60199474:60199543:60214091:60214215	60199474:60199543	ENSG00000049167.9	ENST00000543101.1
exon_skip_442383	5	60199474:60199543:60200614:60200700:60214091:60214215	60200614:60200700	ENSG00000049167.9	ENST00000495985.1
exon_skip_442384	5	60199474:60199543:60200618:60200700:60214091:60214215	60200618:60200700	ENSG00000049167.9	ENST00000381118.3,ENST00000426742.2,ENST00000265038.5,ENST00000439176.1,ENST00000497892.1
exon_skip_442387	5	60214091:60214215:60217880:60217982:60224690:60224786	60217880:60217982	ENSG00000049167.9	ENST00000265038.5,ENST00000543101.1,ENST00000439176.1,ENST00000497892.1,ENST00000477893.1
exon_skip_442392	5	60217880:60217982:60220117:60220335:60224690:60224784	60220117:60220335	ENSG00000049167.9	ENST00000381118.3,ENST00000426742.2
exon_skip_442395	5	60217880:60217982:60224690:60224786:60240758:60240878	60224690:60224786	ENSG00000049167.9	ENST00000265038.5,ENST00000543101.1,ENST00000497892.1,ENST00000477893.1
exon_skip_442398	5	60224690:60224786:60227933:60227975:60240758:60240878	60227933:60227975	ENSG00000049167.9	ENST00000439176.1

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 ERCC8

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
ENST00000265038	60200618	60200700	Frame-shift
ENST00000265038	60183266	60183347	In-frame
ENST00000265038	60186715	60186913	In-frame
ENST00000265038	60217880	60217982	In-frame
ENST00000265038	60224690	60224786	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
ENST00000265038	60200618	60200700	Frame-shift
ENST00000265038	60183266	60183347	In-frame
ENST00000265038	60186715	60186913	In-frame
ENST00000265038	60217880	60217982	In-frame
ENST00000265038	60224690	60224786	In-frame

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Infer the effects of exon skipping event on protein functional features for ERCC8

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
ENST00000265038	2034	396	60224690	60224786	121	216	26	57
ENST00000265038	2034	396	60217880	60217982	217	318	58	91
ENST00000265038	2034	396	60186715	60186913	887	1084	281	347
ENST00000265038	2034	396	60183266	60183347	1085	1165	347	374

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
ENST00000265038	2034	396	60224690	60224786	121	216	26	57
ENST00000265038	2034	396	60217880	60217982	217	318	58	91
ENST00000265038	2034	396	60186715	60186913	887	1084	281	347
ENST00000265038	2034	396	60183266	60183347	1085	1165	347	374

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
Q13216	26	57	30	32	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	26	57	36	38	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	26	57	46	51	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	26	57	1	396	Chain	ID=PRO_0000050970;Note=DNA excision repair protein ERCC-8
Q13216	26	57	15	28	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	26	57	33	73	Repeat	Note=WD 1
Q13216	26	57	53	55	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	58	91	58	63	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	58	91	68	72	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	58	91	77	80	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	58	91	82	84	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	58	91	86	90	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	58	91	1	396	Chain	ID=PRO_0000050970;Note=DNA excision repair protein ERCC-8
Q13216	58	91	33	73	Repeat	Note=WD 1
Q13216	58	91	88	129	Repeat	Note=WD 2
Q13216	281	347	206	396	Alternative sequence	ID=VSP_013915;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q13216	281	347	302	305	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	281	347	307	312	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	281	347	315	320	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	281	347	326	330	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	281	347	337	343	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	281	347	1	396	Chain	ID=PRO_0000050970;Note=DNA excision repair protein ERCC-8
Q13216	281	347	281	321	Repeat	Note=WD 6
Q13216	281	347	325	363	Repeat	Note=WD 7
Q13216	281	347	321	323	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	281	347	344	347	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	347	374	206	396	Alternative sequence	ID=VSP_013915;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q13216	347	374	348	353	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	347	374	358	363	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	347	374	1	396	Chain	ID=PRO_0000050970;Note=DNA excision repair protein ERCC-8
Q13216	347	374	361	361	Natural variant	ID=VAR_068177;Note=In UVSS2. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19329487;Dbxref=dbSNP:rs281875221,PMID:19329487
Q13216	347	374	325	363	Repeat	Note=WD 7
Q13216	347	374	344	347	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11

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
Q13216	26	57	30	32	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	26	57	36	38	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	26	57	46	51	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	26	57	1	396	Chain	ID=PRO_0000050970;Note=DNA excision repair protein ERCC-8
Q13216	26	57	15	28	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	26	57	33	73	Repeat	Note=WD 1
Q13216	26	57	53	55	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	58	91	58	63	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	58	91	68	72	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	58	91	77	80	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	58	91	82	84	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	58	91	86	90	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	58	91	1	396	Chain	ID=PRO_0000050970;Note=DNA excision repair protein ERCC-8
Q13216	58	91	33	73	Repeat	Note=WD 1
Q13216	58	91	88	129	Repeat	Note=WD 2
Q13216	281	347	206	396	Alternative sequence	ID=VSP_013915;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q13216	281	347	302	305	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	281	347	307	312	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	281	347	315	320	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	281	347	326	330	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	281	347	337	343	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	281	347	1	396	Chain	ID=PRO_0000050970;Note=DNA excision repair protein ERCC-8
Q13216	281	347	281	321	Repeat	Note=WD 6
Q13216	281	347	325	363	Repeat	Note=WD 7
Q13216	281	347	321	323	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	281	347	344	347	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	347	374	206	396	Alternative sequence	ID=VSP_013915;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q13216	347	374	348	353	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	347	374	358	363	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11
Q13216	347	374	1	396	Chain	ID=PRO_0000050970;Note=DNA excision repair protein ERCC-8
Q13216	347	374	361	361	Natural variant	ID=VAR_068177;Note=In UVSS2. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19329487;Dbxref=dbSNP:rs281875221,PMID:19329487
Q13216	347	374	325	363	Repeat	Note=WD 7
Q13216	347	374	344	347	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4A11

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SNVs in the skipped exons for ERCC8

- 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.

- 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_442377	60186716	60186913	60186830	60186830	Frame_Shift_Del	A	-	p.F251fs
STAD	TCGA-CD-A4MG-01	exon_skip_442377	60186716	60186913	60186878	60186878	Frame_Shift_Del	T	-	p.G294fs
STAD	TCGA-CD-A4MG-01	exon_skip_442377	60186716	60186913	60186878	60186878	Frame_Shift_Del	T	-	p.K293fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_442381	60199475	60199543	60199507	60199507	Frame_Shift_Del	A	-	p.L115fs
ACC	TCGA-OR-A5LJ-01	exon_skip_442395	60224691	60224786	60224762	60224765	Frame_Shift_Del	TTTA	-	p.34_35del
ACC	TCGA-OR-A5LJ-01	exon_skip_442395	60224691	60224786	60224762	60224765	Frame_Shift_Del	TTTA	-	p.NK33fs
STAD	TCGA-HU-A4H8-01	exon_skip_442395	60224691	60224786	60224781	60224781	Frame_Shift_Del	A	-	p.L28fs
ESCA	TCGA-L5-A88S-01	exon_skip_442373	60183267	60183347	60183321	60183321	Nonsense_Mutation	G	T	p.C356*
ESCA	TCGA-L5-A88S-01	exon_skip_442373	60183267	60183347	60183321	60183321	Nonsense_Mutation	G	T	p.C356X
CESC	TCGA-JW-A5VL-01	exon_skip_442377	60186716	60186913	60186718	60186718	Nonsense_Mutation	G	A	p.Q347*

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

Depth of coverage in three exons

Mutation description

- 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
NCIH146_LUNG	60186716	60186913	60186772	60186775	Frame_Shift_Del	TAGT	-	p.TM328fs
YD10B_UPPER_AERODIGESTIVE_TRACT	60183267	60183347	60183332	60183332	Missense_Mutation	T	G	p.S353R
SCH_STOMACH	60183267	60183347	60183335	60183335	Missense_Mutation	C	G	p.G352R
MCC13_SKIN	60183267	60183347	60183337	60183337	Missense_Mutation	C	T	p.S351N
GP2D_LARGE_INTESTINE	60183267	60183347	60183337	60183337	Missense_Mutation	C	A	p.S351I
GP5D_LARGE_INTESTINE	60183267	60183347	60183337	60183337	Missense_Mutation	C	A	p.S351I
SNU1040_LARGE_INTESTINE	60186716	60186913	60186735	60186735	Missense_Mutation	A	G	p.V341A
MHHES1_BONE	60186716	60186913	60186742	60186742	Missense_Mutation	A	C	p.C339G
C2BBE1_LARGE_INTESTINE	60186716	60186913	60186779	60186779	Missense_Mutation	C	G	p.Q326H
CACO2_LARGE_INTESTINE	60186716	60186913	60186779	60186779	Missense_Mutation	C	G	p.Q326H
SNU1040_LARGE_INTESTINE	60186716	60186913	60186807	60186807	Missense_Mutation	G	A	p.A317V
SNU81_LARGE_INTESTINE	60186716	60186913	60186813	60186813	Missense_Mutation	G	A	p.T315I
K5_THYROID	60186716	60186913	60186817	60186817	Missense_Mutation	T	C	p.S314G
LN428_CENTRAL_NERVOUS_SYSTEM	60186716	60186913	60186859	60186859	Missense_Mutation	A	G	p.S300P
HCC2998_LARGE_INTESTINE	60199475	60199543	60199501	60199501	Missense_Mutation	G	A	p.S175F
KM12_LARGE_INTESTINE	60217881	60217982	60217948	60217948	Missense_Mutation	G	A	p.L70F
NCIH2803_PLEURA	60217881	60217982	60217956	60217956	Missense_Mutation	A	G	p.V67A
LNCAPCLONEFGC_PROSTATE	60224691	60224786	60224695	60224695	Missense_Mutation	T	C	p.R57G
HCC1143_BREAST	60224691	60224786	60224713	60224713	Missense_Mutation	T	C	p.I51V
HCC1143_MATCHED_NORMAL_TISSUE	60224691	60224786	60224713	60224713	Missense_Mutation	T	C	p.I51V
KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	60200619	60200700	60200619	60200619	Splice_Site	C	T	p.V161I
KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	60200615	60200700	60200619	60200619	Splice_Site	C	T	p.V161I
IPC298_SKIN	60217881	60217982	60217881	60217881	Splice_Site	C	T	p.R92K

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ERCC8

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_442384	5	60199474:60199543:60200618:60200700:60214091:60214215	60200618:60200700	ENST00000439176.1,ENST00000497892.1,ENST00000426742.2,ENST00000381118.3,ENST00000265038.5	HNSC	rs4647100	chr5:60200665	A/G	3.22e-04
exon_skip_442384	5	60199474:60199543:60200618:60200700:60214091:60214215	60200618:60200700	ENST00000439176.1,ENST00000497892.1,ENST00000426742.2,ENST00000381118.3,ENST00000265038.5	BRCA	rs4647100	chr5:60200665	A/G	7.09e-08
exon_skip_442384	5	60199474:60199543:60200618:60200700:60214091:60214215	60200618:60200700	ENST00000439176.1,ENST00000497892.1,ENST00000426742.2,ENST00000381118.3,ENST00000265038.5	LGG	rs4647100	chr5:60200665	A/G	2.04e-05
exon_skip_442384	5	60199474:60199543:60200618:60200700:60214091:60214215	60200618:60200700	ENST00000439176.1,ENST00000497892.1,ENST00000426742.2,ENST00000381118.3,ENST00000265038.5	KIRC	rs4647100	chr5:60200665	A/G	5.89e-07
exon_skip_442384	5	60199474:60199543:60200618:60200700:60214091:60214215	60200618:60200700	ENST00000439176.1,ENST00000497892.1,ENST00000426742.2,ENST00000381118.3,ENST00000265038.5	LUAD	rs4647100	chr5:60200665	A/G	6.71e-05
exon_skip_442384	5	60199474:60199543:60200618:60200700:60214091:60214215	60200618:60200700	ENST00000439176.1,ENST00000497892.1,ENST00000426742.2,ENST00000381118.3,ENST00000265038.5	LUSC	rs4647100	chr5:60200665	A/G	2.13e-07
exon_skip_442384	5	60199474:60199543:60200618:60200700:60214091:60214215	60200618:60200700	ENST00000439176.1,ENST00000497892.1,ENST00000426742.2,ENST00000381118.3,ENST00000265038.5	OV	rs4647100	chr5:60200665	A/G	5.63e-04
exon_skip_442383	5	60199474:60199543:60200614:60200700:60214091:60214215	60200614:60200700	ENST00000495985.1	HNSC	rs4647100	chr5:60200665	A/G	3.22e-04
exon_skip_442383	5	60199474:60199543:60200614:60200700:60214091:60214215	60200614:60200700	ENST00000495985.1	BRCA	rs4647100	chr5:60200665	A/G	7.09e-08
exon_skip_442383	5	60199474:60199543:60200614:60200700:60214091:60214215	60200614:60200700	ENST00000495985.1	LGG	rs4647100	chr5:60200665	A/G	2.04e-05
exon_skip_442383	5	60199474:60199543:60200614:60200700:60214091:60214215	60200614:60200700	ENST00000495985.1	KIRC	rs4647100	chr5:60200665	A/G	5.89e-07
exon_skip_442383	5	60199474:60199543:60200614:60200700:60214091:60214215	60200614:60200700	ENST00000495985.1	LUAD	rs4647100	chr5:60200665	A/G	6.71e-05
exon_skip_442383	5	60199474:60199543:60200614:60200700:60214091:60214215	60200614:60200700	ENST00000495985.1	LUSC	rs4647100	chr5:60200665	A/G	2.13e-07
exon_skip_442383	5	60199474:60199543:60200614:60200700:60214091:60214215	60200614:60200700	ENST00000495985.1	OV	rs4647100	chr5:60200665	A/G	5.63e-04
exon_skip_442379	5	60186715:60186913:60187863:60189470:60194102:60194227	60187863:60189470	ENST00000462279.1	HNSC	rs4235483	chr5:60188222	A/G	9.23e-05
exon_skip_442379	5	60186715:60186913:60187863:60189470:60194102:60194227	60187863:60189470	ENST00000462279.1	BRCA	rs4235483	chr5:60188222	A/G	1.12e-05
exon_skip_442379	5	60186715:60186913:60187863:60189470:60194102:60194227	60187863:60189470	ENST00000462279.1	LGG	rs4235483	chr5:60188222	A/G	3.40e-05
exon_skip_442379	5	60186715:60186913:60187863:60189470:60194102:60194227	60187863:60189470	ENST00000462279.1	LGG	rs3832350	chr5:60187967	G/GT	1.86e-04
exon_skip_442379	5	60186715:60186913:60187863:60189470:60194102:60194227	60187863:60189470	ENST00000462279.1	KIRC	rs3832350	chr5:60187967	G/GT	2.62e-03
exon_skip_442379	5	60186715:60186913:60187863:60189470:60194102:60194227	60187863:60189470	ENST00000462279.1	LUAD	rs4235483	chr5:60188222	A/G	5.59e-04
exon_skip_442379	5	60186715:60186913:60187863:60189470:60194102:60194227	60187863:60189470	ENST00000462279.1	LUSC	rs4235483	chr5:60188222	A/G	3.22e-06

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ERCC8

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ERCC8

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RelatedDrugs for ERCC8

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 ERCC8

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ERCC8	C0751039	Cockayne Syndrome, Type I	3	ORPHANET;UNIPROT
ERCC8	C0009207	Cockayne Syndrome	2	CTD_human
ERCC8	C3553298	UV-SENSITIVE SYNDROME 2	1	UNIPROT

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

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