ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for EXO1

Gene summary

Gene information	Gene symbol	EXO1
	Gene ID	9156
	Gene name	exonuclease 1
	Synonyms	HEX1\|hExoI
	Cytomap	1q43
	Type of gene	protein-coding
	Description	exonuclease 1rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1
	Modification date	20180527
	UniProtAcc	Q9UQ84
	Context	PubMed: EXO1 [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
EXO1	GO:0006298	mismatch repair	14636568

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Exon skipping events across known transcript of Ensembl for EXO1 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 EXO1

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 EXO1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_19733	1	242012284:242012329:242012410:242012518:242013710:242013762	242012410:242012518	ENSG00000174371.12	ENST00000450748.1
exon_skip_19735	1	242012284:242012329:242012413:242012518:242013710:242013762	242012413:242012518	ENSG00000174371.12	ENST00000366548.3
exon_skip_19737	1	242012284:242012329:242013710:242013888:242015593:242015713	242013710:242013888	ENSG00000174371.12	ENST00000518483.1,ENST00000348581.5
exon_skip_19738	1	242013793:242013888:242015593:242015713:242016659:242016774	242015593:242015713	ENSG00000174371.12	ENST00000450748.1,ENST00000366548.3,ENST00000518483.1,ENST00000348581.5
exon_skip_19742	1	242013793:242013888:242016659:242016783:242020646:242020784	242016659:242016783	ENSG00000174371.12	ENST00000423131.1
exon_skip_19744	1	242015593:242015713:242016659:242016783:242020646:242020784	242016659:242016783	ENSG00000174371.12	ENST00000366548.3,ENST00000518483.1,ENST00000348581.5
exon_skip_19745	1	242016659:242016783:242017874:242018083:242020646:242020784	242017874:242018083	ENSG00000174371.12	ENST00000493702.1
exon_skip_19747	1	242042341:242042645:242045217:242045319:242048615:242048809	242045217:242045319	ENSG00000174371.12	ENST00000366548.3,ENST00000518483.1,ENST00000348581.5
exon_skip_19749	1	242045217:242045319:242048615:242048809:242052766:242052891	242048615:242048809	ENSG00000174371.12	ENST00000366548.3,ENST00000348581.5

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for EXO1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_19733	1	242012284:242012329:242012410:242012518:242013710:242013762	242012410:242012518	ENSG00000174371.12	ENST00000450748.1
exon_skip_19735	1	242012284:242012329:242012413:242012518:242013710:242013762	242012413:242012518	ENSG00000174371.12	ENST00000366548.3
exon_skip_19737	1	242012284:242012329:242013710:242013888:242015593:242015713	242013710:242013888	ENSG00000174371.12	ENST00000348581.5,ENST00000518483.1
exon_skip_19738	1	242013793:242013888:242015593:242015713:242016659:242016774	242015593:242015713	ENSG00000174371.12	ENST00000366548.3,ENST00000348581.5,ENST00000518483.1,ENST00000450748.1
exon_skip_19739	1	242013793:242013888:242015593:242015713:242020646:242020784	242015593:242015713	ENSG00000174371.12	ENST00000469419.1
exon_skip_19741	1	242013793:242013888:242016659:242016774:242020646:242020784	242016659:242016774	ENSG00000174371.12	ENST00000437497.1
exon_skip_19742	1	242013793:242013888:242016659:242016783:242020646:242020784	242016659:242016783	ENSG00000174371.12	ENST00000423131.1
exon_skip_19744	1	242015593:242015713:242016659:242016783:242020646:242020784	242016659:242016783	ENSG00000174371.12	ENST00000366548.3,ENST00000348581.5,ENST00000518483.1
exon_skip_19745	1	242016659:242016783:242017874:242018083:242020646:242020784	242017874:242018083	ENSG00000174371.12	ENST00000493702.1
exon_skip_19747	1	242042341:242042645:242045217:242045319:242048615:242048809	242045217:242045319	ENSG00000174371.12	ENST00000366548.3,ENST00000348581.5,ENST00000518483.1
exon_skip_19749	1	242045217:242045319:242048615:242048809:242052766:242052891	242048615:242048809	ENSG00000174371.12	ENST00000366548.3,ENST00000348581.5

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 EXO1

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
ENST00000348581	242013710	242013888	5CDS-5UTR
ENST00000366548	242012413	242012518	5UTR-5UTR
ENST00000348581	242016659	242016783	Frame-shift
ENST00000366548	242016659	242016783	Frame-shift
ENST00000348581	242048615	242048809	Frame-shift
ENST00000366548	242048615	242048809	Frame-shift
ENST00000348581	242015593	242015713	In-frame
ENST00000366548	242015593	242015713	In-frame
ENST00000348581	242045217	242045319	In-frame
ENST00000366548	242045217	242045319	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
ENST00000348581	242013710	242013888	5CDS-5UTR
ENST00000366548	242012413	242012518	5UTR-5UTR
ENST00000348581	242016659	242016783	Frame-shift
ENST00000366548	242016659	242016783	Frame-shift
ENST00000348581	242048615	242048809	Frame-shift
ENST00000366548	242048615	242048809	Frame-shift
ENST00000348581	242015593	242015713	In-frame
ENST00000366548	242015593	242015713	In-frame
ENST00000348581	242045217	242045319	In-frame
ENST00000366548	242045217	242045319	In-frame

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Infer the effects of exon skipping event on protein functional features for EXO1

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
ENST00000348581	3207	846	242015593	242015713	476	595	54	93
ENST00000366548	3490	846	242015593	242015713	755	874	54	93
ENST00000348581	3207	846	242045217	242045319	2424	2525	703	737
ENST00000366548	3490	846	242045217	242045319	2703	2804	703	737

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
ENST00000348581	3207	846	242015593	242015713	476	595	54	93
ENST00000366548	3490	846	242015593	242015713	755	874	54	93
ENST00000348581	3207	846	242045217	242045319	2424	2525	703	737
ENST00000366548	3490	846	242045217	242045319	2703	2804	703	737

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
Q9UQ84	54	93	72	77	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5V07
Q9UQ84	54	93	72	77	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5V07
Q9UQ84	54	93	1	846	Chain	ID=PRO_0000154039;Note=Exonuclease 1
Q9UQ84	54	93	1	846	Chain	ID=PRO_0000154039;Note=Exonuclease 1
Q9UQ84	54	93	54	68	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5V07
Q9UQ84	54	93	54	68	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5V07
Q9UQ84	54	93	83	85	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5V07
Q9UQ84	54	93	83	85	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5V07
Q9UQ84	54	93	86	107	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5V07
Q9UQ84	54	93	86	107	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5V07
Q9UQ84	54	93	78	78	Metal binding	Note=Magnesium 1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9UQ84	54	93	78	78	Metal binding	Note=Magnesium 1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9UQ84	54	93	78	78	Mutagenesis	Note=Abrogates double-stranded DNA exonuclease activity and endonuclease activity against 5'-overhanging flap structures. Also reduces DNA-binding to 5'-overhanging flap structures. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11842105;Dbxre
Q9UQ84	54	93	78	78	Mutagenesis	Note=Abrogates double-stranded DNA exonuclease activity and endonuclease activity against 5'-overhanging flap structures. Also reduces DNA-binding to 5'-overhanging flap structures. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11842105;Dbxre
Q9UQ84	54	93	76	76	Natural variant	ID=VAR_024967;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.5;Dbxref=dbSNP:rs4149864
Q9UQ84	54	93	76	76	Natural variant	ID=VAR_024967;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.5;Dbxref=dbSNP:rs4149864
Q9UQ84	54	93	93	93	Natural variant	ID=VAR_024968;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.5;Dbxref=dbSNP:rs4149865
Q9UQ84	54	93	93	93	Natural variant	ID=VAR_024968;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.5;Dbxref=dbSNP:rs4149865
Q9UQ84	54	93	1	99	Region	Note=N-domain
Q9UQ84	54	93	1	99	Region	Note=N-domain
Q9UQ84	703	737	1	846	Chain	ID=PRO_0000154039;Note=Exonuclease 1
Q9UQ84	703	737	1	846	Chain	ID=PRO_0000154039;Note=Exonuclease 1
Q9UQ84	703	737	714	714	Modified residue	Note=Phosphoserine%3B by ATR;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18048416;Dbxref=PMID:18048416
Q9UQ84	703	737	714	714	Modified residue	Note=Phosphoserine%3B by ATR;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18048416;Dbxref=PMID:18048416
Q9UQ84	703	737	714	714	Mutagenesis	Note=No rescue of HU-induced degradation and loss of HU-induced increase of phosphorylation. No rescue of HU-induced degradation%3B when associated with A-621. No rescue of HU-induced degradation%3B when associated with A-454. Loss of HU-sensitivity and r
Q9UQ84	703	737	714	714	Mutagenesis	Note=No rescue of HU-induced degradation and loss of HU-induced increase of phosphorylation. No rescue of HU-induced degradation%3B when associated with A-621. No rescue of HU-induced degradation%3B when associated with A-454. Loss of HU-sensitivity and r
Q9UQ84	703	737	723	723	Natural variant	ID=VAR_024988;Note=R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10364235,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:17974005,ECO:0000269\|PubMed:9685493,ECO:0000269\|P
Q9UQ84	703	737	723	723	Natural variant	ID=VAR_024988;Note=R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10364235,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:17974005,ECO:0000269\|PubMed:9685493,ECO:0000269\|P
Q9UQ84	703	737	726	726	Natural variant	ID=VAR_024989;Note=H->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14756672;Dbxref=PMID:14756672
Q9UQ84	703	737	726	726	Natural variant	ID=VAR_024989;Note=H->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14756672;Dbxref=PMID:14756672
Q9UQ84	703	737	600	846	Region	Note=Interaction with MSH2
Q9UQ84	703	737	600	846	Region	Note=Interaction with MSH2

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
Q9UQ84	54	93	72	77	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5V07
Q9UQ84	54	93	72	77	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5V07
Q9UQ84	54	93	1	846	Chain	ID=PRO_0000154039;Note=Exonuclease 1
Q9UQ84	54	93	1	846	Chain	ID=PRO_0000154039;Note=Exonuclease 1
Q9UQ84	54	93	54	68	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5V07
Q9UQ84	54	93	54	68	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5V07
Q9UQ84	54	93	83	85	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5V07
Q9UQ84	54	93	83	85	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5V07
Q9UQ84	54	93	86	107	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5V07
Q9UQ84	54	93	86	107	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5V07
Q9UQ84	54	93	78	78	Metal binding	Note=Magnesium 1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9UQ84	54	93	78	78	Metal binding	Note=Magnesium 1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9UQ84	54	93	78	78	Mutagenesis	Note=Abrogates double-stranded DNA exonuclease activity and endonuclease activity against 5'-overhanging flap structures. Also reduces DNA-binding to 5'-overhanging flap structures. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11842105;Dbxre
Q9UQ84	54	93	78	78	Mutagenesis	Note=Abrogates double-stranded DNA exonuclease activity and endonuclease activity against 5'-overhanging flap structures. Also reduces DNA-binding to 5'-overhanging flap structures. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11842105;Dbxre
Q9UQ84	54	93	76	76	Natural variant	ID=VAR_024967;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.5;Dbxref=dbSNP:rs4149864
Q9UQ84	54	93	76	76	Natural variant	ID=VAR_024967;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.5;Dbxref=dbSNP:rs4149864
Q9UQ84	54	93	93	93	Natural variant	ID=VAR_024968;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.5;Dbxref=dbSNP:rs4149865
Q9UQ84	54	93	93	93	Natural variant	ID=VAR_024968;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.5;Dbxref=dbSNP:rs4149865
Q9UQ84	54	93	1	99	Region	Note=N-domain
Q9UQ84	54	93	1	99	Region	Note=N-domain
Q9UQ84	703	737	1	846	Chain	ID=PRO_0000154039;Note=Exonuclease 1
Q9UQ84	703	737	1	846	Chain	ID=PRO_0000154039;Note=Exonuclease 1
Q9UQ84	703	737	714	714	Modified residue	Note=Phosphoserine%3B by ATR;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18048416;Dbxref=PMID:18048416
Q9UQ84	703	737	714	714	Modified residue	Note=Phosphoserine%3B by ATR;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18048416;Dbxref=PMID:18048416
Q9UQ84	703	737	714	714	Mutagenesis	Note=No rescue of HU-induced degradation and loss of HU-induced increase of phosphorylation. No rescue of HU-induced degradation%3B when associated with A-621. No rescue of HU-induced degradation%3B when associated with A-454. Loss of HU-sensitivity and r
Q9UQ84	703	737	714	714	Mutagenesis	Note=No rescue of HU-induced degradation and loss of HU-induced increase of phosphorylation. No rescue of HU-induced degradation%3B when associated with A-621. No rescue of HU-induced degradation%3B when associated with A-454. Loss of HU-sensitivity and r
Q9UQ84	703	737	723	723	Natural variant	ID=VAR_024988;Note=R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10364235,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:17974005,ECO:0000269\|PubMed:9685493,ECO:0000269\|P
Q9UQ84	703	737	723	723	Natural variant	ID=VAR_024988;Note=R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10364235,ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:17974005,ECO:0000269\|PubMed:9685493,ECO:0000269\|P
Q9UQ84	703	737	726	726	Natural variant	ID=VAR_024989;Note=H->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14756672;Dbxref=PMID:14756672
Q9UQ84	703	737	726	726	Natural variant	ID=VAR_024989;Note=H->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14756672;Dbxref=PMID:14756672
Q9UQ84	703	737	600	846	Region	Note=Interaction with MSH2
Q9UQ84	703	737	600	846	Region	Note=Interaction with MSH2

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SNVs in the skipped exons for EXO1

- 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.

EXO1_HNSC_exon_skip_19747_psi_boxplot.png
boxplot

EXO1_LUSC_exon_skip_19747_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_19737	242013711	242013888	242013758	242013758	Frame_Shift_Del	A	-	p.K11fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_19744 exon_skip_19742	242016660	242016783	242016709	242016709	Frame_Shift_Del	A	-	p.K111fs
STAD	TCGA-BR-4292-01	exon_skip_19747	242045218	242045319	242045292	242045292	Frame_Shift_Del	A	-	p.S728fs
STAD	TCGA-BR-4292-01	exon_skip_19747	242045218	242045319	242045292	242045292	Frame_Shift_Del	A	-	p.S728X
STAD	TCGA-CG-5733-01	exon_skip_19747	242045218	242045319	242045292	242045292	Frame_Shift_Del	A	-	p.S728fs
STAD	TCGA-CG-5733-01	exon_skip_19747	242045218	242045319	242045292	242045292	Frame_Shift_Del	A	-	p.S728X
STAD	TCGA-B7-5816-01	exon_skip_19749	242048616	242048809	242048759	242048759	Frame_Shift_Del	G	-	p.P785fs
UCEC	TCGA-AP-A051-01	exon_skip_19744 exon_skip_19742	242016660	242016783	242016664	242016664	Nonsense_Mutation	C	T	p.R96*
HNSC	TCGA-CR-7368-01	exon_skip_19747	242045218	242045319	242045251	242045251	Nonsense_Mutation	C	T	p.Q715*
SKCM	TCGA-EE-A2MJ-06	exon_skip_19744 exon_skip_19742	242016660	242016783	242016659	242016659	Splice_Site	G	A	.
LUSC	TCGA-18-4083-01	exon_skip_19747	242045218	242045319	242045216	242045216	Splice_Site	A	G	p.E704_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-18-4083-01
	Cancer type: LUSC
	ESID: exon_skip_19747
	Skipped exon start: 242045218
	Skipped exon end: 242045319
	Mutation start: 242045216
	Mutation end: 242045216
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: p.E704_splice
exon_skip_19747_LUSC_TCGA-18-4083-01.png
exon_skip_506320_LUSC_TCGA-18-4083-01.png
exon_skip_62335_LUSC_TCGA-18-4083-01.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
SNU1_STOMACH	242045218	242045319	242045292	242045292	Frame_Shift_Del	A	-	p.S728fs
LS411N_LARGE_INTESTINE	242045218	242045319	242045292	242045292	Frame_Shift_Del	A	-	p.S728fs
SNU175_LARGE_INTESTINE	242013711	242013888	242013774	242013774	Missense_Mutation	C	T	p.P16L
D247MG_CENTRAL_NERVOUS_SYSTEM	242013711	242013888	242013792	242013792	Missense_Mutation	A	T	p.Y22F
TGBC11TKB_STOMACH	242015594	242015713	242015602	242015602	Missense_Mutation	G	C	p.G57A
HEC251_ENDOMETRIUM	242015594	242015713	242015615	242015615	Missense_Mutation	A	C	p.K61N
NCCSTCK140_STOMACH	242015594	242015713	242015710	242015710	Missense_Mutation	G	A	p.R93K
NCIH524_LUNG	242016660	242016783	242016700	242016700	Missense_Mutation	C	T	p.R108C
NCIH1869_LUNG	242016660	242016783	242016703	242016703	Missense_Mutation	G	C	p.E109Q
A498_KIDNEY	242045218	242045319	242045230	242045230	Missense_Mutation	A	G	p.N708D
OVK18_OVARY	242045218	242045319	242045246	242045246	Missense_Mutation	A	G	p.D713G
HS172T_FIBROBLAST	242045218	242045319	242045303	242045303	Missense_Mutation	C	T	p.T732I
HEC59_ENDOMETRIUM	242048616	242048809	242048620	242048620	Missense_Mutation	C	T	p.P739L
JHH2_LIVER	242048616	242048809	242048629	242048629	Missense_Mutation	A	G	p.Y742C
MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	242048616	242048809	242048683	242048683	Missense_Mutation	C	T	p.P760L
DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	242048616	242048809	242048725	242048725	Missense_Mutation	A	T	p.Q774L
LU139_LUNG	242048616	242048809	242048728	242048728	Missense_Mutation	A	T	p.K775M
MDAMB175VII_BREAST	242015594	242015713	242015672	242015672	Nonsense_Mutation	T	A	p.C80*
SNU489_CENTRAL_NERVOUS_SYSTEM	242048616	242048809	242048617	242048617	Splice_Site	T	C	p.V738A

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EXO1

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 EXO1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EXO1

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RelatedDrugs for EXO1

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 EXO1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
EXO1	C0009404	Colorectal Neoplasms	1	CTD_human
EXO1	C1458155	Mammary Neoplasms	1	CTD_human

	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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