ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for USP40

Gene summary

Gene information	Gene symbol	USP40
	Gene ID	55230
	Gene name	ubiquitin specific peptidase 40
	Synonyms	-
	Cytomap	2q37.1
	Type of gene	protein-coding
	Description	ubiquitin carboxyl-terminal hydrolase 40deubiquitinating enzyme 40ubiquitin specific protease 40ubiquitin thioesterase 40ubiquitin thiolesterase 40ubiquitin-specific-processing protease 40
	Modification date	20180523
	UniProtAcc	Q9NVE5
	Context	PubMed: USP40 [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 USP40 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 USP40

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 USP40

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_347431	2	234394595:234394623:234396884:234396950:234398010:234398107	234396884:234396950	ENSG00000085982.9	ENST00000496298.1,ENST00000450940.1,ENST00000483519.1,ENST00000450966.1,ENST00000427112.2,ENST00000473191.1,ENST00000251722.6
exon_skip_347434	2	234398010:234398129:234399677:234399717:234399812:234399907	234399677:234399717	ENSG00000085982.9	ENST00000450940.1
exon_skip_347436	2	234398010:234398129:234399812:234399907:234402070:234402123	234399812:234399907	ENSG00000085982.9	ENST00000450966.1,ENST00000430158.1,ENST00000427112.2,ENST00000251722.6
exon_skip_347441	2	234420354:234420443:234421214:234421268:234428259:234428317	234421214:234421268	ENSG00000085982.9	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6
exon_skip_347450	2	234433137:234433208:234434123:234434208:234436052:234436224	234434123:234434208	ENSG00000085982.9	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6
exon_skip_347451	2	234438076:234438158:234442124:234442425:234449307:234449412	234442124:234442425	ENSG00000085982.9	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENSG00000085982.9	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6
exon_skip_347462	2	234457746:234457875:234460021:234460165:234463025:234463172	234460021:234460165	ENSG00000085982.9	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6
exon_skip_347465	2	234468456:234468570:234471381:234471449:234474001:234474219	234471381:234471449	ENSG00000085982.9	ENST00000484528.1,ENST00000427112.2,ENST00000427947.3,ENST00000251722.6

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for USP40

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_347431	2	234394595:234394623:234396884:234396950:234398010:234398107	234396884:234396950	ENSG00000085982.9	ENST00000450966.1,ENST00000483519.1,ENST00000251722.6,ENST00000427112.2,ENST00000450940.1,ENST00000496298.1,ENST00000473191.1
exon_skip_347434	2	234398010:234398129:234399677:234399717:234399812:234399907	234399677:234399717	ENSG00000085982.9	ENST00000450940.1
exon_skip_347436	2	234398010:234398129:234399812:234399907:234402070:234402123	234399812:234399907	ENSG00000085982.9	ENST00000450966.1,ENST00000251722.6,ENST00000427112.2,ENST00000430158.1
exon_skip_347441	2	234420354:234420443:234421214:234421268:234428259:234428317	234421214:234421268	ENSG00000085982.9	ENST00000450966.1,ENST00000251722.6,ENST00000427112.2
exon_skip_347450	2	234433137:234433208:234434123:234434208:234436052:234436224	234434123:234434208	ENSG00000085982.9	ENST00000450966.1,ENST00000251722.6,ENST00000427112.2
exon_skip_347451	2	234438076:234438158:234442124:234442425:234449307:234449412	234442124:234442425	ENSG00000085982.9	ENST00000450966.1,ENST00000251722.6,ENST00000427112.2
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENSG00000085982.9	ENST00000450966.1,ENST00000251722.6,ENST00000427112.2
exon_skip_347462	2	234457746:234457875:234460021:234460165:234463025:234463172	234460021:234460165	ENSG00000085982.9	ENST00000450966.1,ENST00000251722.6,ENST00000427112.2
exon_skip_347465	2	234468456:234468570:234471381:234471449:234474001:234474219	234471381:234471449	ENSG00000085982.9	ENST00000251722.6,ENST00000427112.2,ENST00000427947.3,ENST00000484528.1

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 USP40

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
ENST00000251722	234399812	234399907	Frame-shift
ENST00000427112	234399812	234399907	Frame-shift
ENST00000251722	234434123	234434208	Frame-shift
ENST00000427112	234434123	234434208	Frame-shift
ENST00000251722	234442124	234442425	Frame-shift
ENST00000427112	234442124	234442425	Frame-shift
ENST00000251722	234471381	234471449	Frame-shift
ENST00000427112	234471381	234471449	Frame-shift
ENST00000251722	234396884	234396950	In-frame
ENST00000427112	234396884	234396950	In-frame
ENST00000251722	234421214	234421268	In-frame
ENST00000427112	234421214	234421268	In-frame
ENST00000251722	234449307	234449412	In-frame
ENST00000427112	234449307	234449412	In-frame
ENST00000251722	234460021	234460165	In-frame
ENST00000427112	234460021	234460165	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
ENST00000251722	234399812	234399907	Frame-shift
ENST00000427112	234399812	234399907	Frame-shift
ENST00000251722	234434123	234434208	Frame-shift
ENST00000427112	234434123	234434208	Frame-shift
ENST00000251722	234442124	234442425	Frame-shift
ENST00000427112	234442124	234442425	Frame-shift
ENST00000251722	234471381	234471449	Frame-shift
ENST00000427112	234471381	234471449	Frame-shift
ENST00000251722	234396884	234396950	In-frame
ENST00000427112	234396884	234396950	In-frame
ENST00000251722	234421214	234421268	In-frame
ENST00000427112	234421214	234421268	In-frame
ENST00000251722	234449307	234449412	In-frame
ENST00000427112	234449307	234449412	In-frame
ENST00000251722	234460021	234460165	In-frame
ENST00000427112	234460021	234460165	In-frame

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Infer the effects of exon skipping event on protein functional features for USP40

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
ENST00000251722	5709	1235	234460021	234460165	812	955	231	279
ENST00000427112	3761	1235	234460021	234460165	730	873	231	279
ENST00000251722	5709	1235	234449307	234449412	1181	1285	354	389
ENST00000427112	3761	1235	234449307	234449412	1099	1203	354	389
ENST00000251722	5709	1235	234421214	234421268	2499	2552	793	811
ENST00000427112	3761	1235	234421214	234421268	2417	2470	793	811
ENST00000251722	5709	1235	234396884	234396950	3247	3312	1043	1064
ENST00000427112	3761	1235	234396884	234396950	3165	3230	1043	1064

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
ENST00000251722	5709	1235	234460021	234460165	812	955	231	279
ENST00000427112	3761	1235	234460021	234460165	730	873	231	279
ENST00000251722	5709	1235	234449307	234449412	1181	1285	354	389
ENST00000427112	3761	1235	234449307	234449412	1099	1203	354	389
ENST00000251722	5709	1235	234421214	234421268	2499	2552	793	811
ENST00000427112	3761	1235	234421214	234421268	2417	2470	793	811
ENST00000251722	5709	1235	234396884	234396950	3247	3312	1043	1064
ENST00000427112	3761	1235	234396884	234396950	3165	3230	1043	1064

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
Q9NVE5	231	279	1	824	Alternative sequence	ID=VSP_008595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NVE5	231	279	1	824	Alternative sequence	ID=VSP_008595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NVE5	231	279	1	1235	Chain	ID=PRO_0000080670;Note=Ubiquitin carboxyl-terminal hydrolase 40
Q9NVE5	231	279	1	1235	Chain	ID=PRO_0000080670;Note=Ubiquitin carboxyl-terminal hydrolase 40
Q9NVE5	231	279	41	482	Domain	Note=USP
Q9NVE5	231	279	41	482	Domain	Note=USP
Q9NVE5	231	279	277	318	Sequence conflict	Note=CEQSELDDLEYIYDLFSVIIHKGGCYGGHYHVYIKDVDHLGN->FFSFNQKMHNVCVNRRYGGSGMPLLRCGRCVGSAQPLSSVFR;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NVE5	231	279	277	318	Sequence conflict	Note=CEQSELDDLEYIYDLFSVIIHKGGCYGGHYHVYIKDVDHLGN->FFSFNQKMHNVCVNRRYGGSGMPLLRCGRCVGSAQPLSSVFR;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NVE5	354	389	1	824	Alternative sequence	ID=VSP_008595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NVE5	354	389	1	824	Alternative sequence	ID=VSP_008595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NVE5	354	389	1	1235	Chain	ID=PRO_0000080670;Note=Ubiquitin carboxyl-terminal hydrolase 40
Q9NVE5	354	389	1	1235	Chain	ID=PRO_0000080670;Note=Ubiquitin carboxyl-terminal hydrolase 40
Q9NVE5	354	389	41	482	Domain	Note=USP
Q9NVE5	354	389	41	482	Domain	Note=USP
Q9NVE5	793	811	1	824	Alternative sequence	ID=VSP_008595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NVE5	793	811	1	824	Alternative sequence	ID=VSP_008595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NVE5	793	811	1	1235	Chain	ID=PRO_0000080670;Note=Ubiquitin carboxyl-terminal hydrolase 40
Q9NVE5	793	811	1	1235	Chain	ID=PRO_0000080670;Note=Ubiquitin carboxyl-terminal hydrolase 40
Q9NVE5	1043	1064	988	1235	Alternative sequence	ID=VSP_012819;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NVE5	1043	1064	988	1235	Alternative sequence	ID=VSP_012819;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NVE5	1043	1064	1	1235	Chain	ID=PRO_0000080670;Note=Ubiquitin carboxyl-terminal hydrolase 40
Q9NVE5	1043	1064	1	1235	Chain	ID=PRO_0000080670;Note=Ubiquitin carboxyl-terminal hydrolase 40

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
Q9NVE5	231	279	1	824	Alternative sequence	ID=VSP_008595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NVE5	231	279	1	824	Alternative sequence	ID=VSP_008595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NVE5	231	279	1	1235	Chain	ID=PRO_0000080670;Note=Ubiquitin carboxyl-terminal hydrolase 40
Q9NVE5	231	279	1	1235	Chain	ID=PRO_0000080670;Note=Ubiquitin carboxyl-terminal hydrolase 40
Q9NVE5	231	279	41	482	Domain	Note=USP
Q9NVE5	231	279	41	482	Domain	Note=USP
Q9NVE5	231	279	277	318	Sequence conflict	Note=CEQSELDDLEYIYDLFSVIIHKGGCYGGHYHVYIKDVDHLGN->FFSFNQKMHNVCVNRRYGGSGMPLLRCGRCVGSAQPLSSVFR;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NVE5	231	279	277	318	Sequence conflict	Note=CEQSELDDLEYIYDLFSVIIHKGGCYGGHYHVYIKDVDHLGN->FFSFNQKMHNVCVNRRYGGSGMPLLRCGRCVGSAQPLSSVFR;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NVE5	354	389	1	824	Alternative sequence	ID=VSP_008595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NVE5	354	389	1	824	Alternative sequence	ID=VSP_008595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NVE5	354	389	1	1235	Chain	ID=PRO_0000080670;Note=Ubiquitin carboxyl-terminal hydrolase 40
Q9NVE5	354	389	1	1235	Chain	ID=PRO_0000080670;Note=Ubiquitin carboxyl-terminal hydrolase 40
Q9NVE5	354	389	41	482	Domain	Note=USP
Q9NVE5	354	389	41	482	Domain	Note=USP
Q9NVE5	793	811	1	824	Alternative sequence	ID=VSP_008595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NVE5	793	811	1	824	Alternative sequence	ID=VSP_008595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NVE5	793	811	1	1235	Chain	ID=PRO_0000080670;Note=Ubiquitin carboxyl-terminal hydrolase 40
Q9NVE5	793	811	1	1235	Chain	ID=PRO_0000080670;Note=Ubiquitin carboxyl-terminal hydrolase 40
Q9NVE5	1043	1064	988	1235	Alternative sequence	ID=VSP_012819;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NVE5	1043	1064	988	1235	Alternative sequence	ID=VSP_012819;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9NVE5	1043	1064	1	1235	Chain	ID=PRO_0000080670;Note=Ubiquitin carboxyl-terminal hydrolase 40
Q9NVE5	1043	1064	1	1235	Chain	ID=PRO_0000080670;Note=Ubiquitin carboxyl-terminal hydrolase 40

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SNVs in the skipped exons for USP40

- 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.

USP40_LUAD_exon_skip_347441_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-DD-A39Y-01	exon_skip_347436	234399813	234399907	234399878	234399878	Frame_Shift_Del	A	-	p.S982fs
LIHC	TCGA-DD-A1EG-01	exon_skip_347451	234442125	234442425	234442212	234442212	Frame_Shift_Del	C	-	p.E461fs
LIHC	TCGA-DD-A3A0-01	exon_skip_347451	234442125	234442425	234442246	234442246	Frame_Shift_Del	A	-	p.F449fs
LIHC	TCGA-DD-A39Y-01	exon_skip_347456	234449308	234449412	234449369	234449369	Frame_Shift_Del	A	-	p.L369fs
LIHC	TCGA-DD-A1EG-01	exon_skip_347462	234460022	234460165	234460030	234460030	Frame_Shift_Del	A	-	p.C277fs
SKCM	TCGA-FW-A3R5-06	exon_skip_347451	234442125	234442425	234442224	234442224	Nonsense_Mutation	G	A	p.Q457*
SKCM	TCGA-FW-A3R5-06	exon_skip_347451	234442125	234442425	234442224	234442224	Nonsense_Mutation	G	A	p.Q469X
HNSC	TCGA-CQ-6228-01	exon_skip_347462	234460022	234460165	234460155	234460155	Nonsense_Mutation	A	C	p.L235*
LUAD	TCGA-75-6214-01	exon_skip_347441	234421215	234421268	234421213	234421213	Splice_Site	A	G	p.V824_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-75-6214-01
	Cancer type: LUAD
	ESID: exon_skip_347441
	Skipped exon start: 234421215
	Skipped exon end: 234421268
	Mutation start: 234421213
	Mutation end: 234421213
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: p.V824_splice
exon_skip_113903_LUAD_TCGA-75-6214-01.png
exon_skip_32368_LUAD_TCGA-75-6214-01.png
exon_skip_32369_LUAD_TCGA-75-6214-01.png
exon_skip_347441_LUAD_TCGA-75-6214-01.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
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	234434124	234434208	234434206	234434207	Frame_Shift_Ins	-	A	p.L575fs
HDQP1_BREAST	234399813	234399907	234399815	234399815	Missense_Mutation	G	C	p.Q1003E
HEC151_ENDOMETRIUM	234399813	234399907	234399835	234399835	Missense_Mutation	G	A	p.T996M
HEC251_ENDOMETRIUM	234399813	234399907	234399842	234399842	Missense_Mutation	C	A	p.D994Y
SQ1_LUNG	234399813	234399907	234399856	234399856	Missense_Mutation	A	G	p.I989T
SH10TC_STOMACH	234399813	234399907	234399864	234399865	Missense_Mutation	CA	AT	p.L986Y
SNU81_LARGE_INTESTINE	234421215	234421268	234421238	234421238	Missense_Mutation	C	A	p.R804I
SW1463_LARGE_INTESTINE	234421215	234421268	234421266	234421266	Missense_Mutation	C	T	p.D795N
SNU175_LARGE_INTESTINE	234442125	234442425	234442295	234442295	Missense_Mutation	G	T	p.P433H
WM983B_SKIN	234442125	234442425	234442326	234442326	Missense_Mutation	T	A	p.R423W
C84_LARGE_INTESTINE	234460022	234460165	234460044	234460044	Missense_Mutation	T	C	p.N272S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	234460022	234460165	234460076	234460076	Missense_Mutation	T	A	p.E261D
SNU1076_UPPER_AERODIGESTIVE_TRACT	234460022	234460165	234460083	234460083	Missense_Mutation	T	C	p.Y259C
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	234460022	234460165	234460129	234460129	Missense_Mutation	C	T	p.V244I
ES8_BONE	234471382	234471449	234471393	234471393	Missense_Mutation	G	C	p.P86A
SH10TC_STOMACH	234399813	234399907	234399865	234399865	Nonsense_Mutation	A	T	p.L986*
LS411N_LARGE_INTESTINE	234442125	234442425	234442314	234442314	Nonsense_Mutation	G	A	p.Q427*
NCIH1339_LUNG	234449308	234449412	234449358	234449358	Nonsense_Mutation	C	A	p.G373*
EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	234434124	234434208	234434125	234434125	Splice_Site	G	A	p.G602G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for USP40

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_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	ESCA	rs2167884	chr2:234449316	G/A	7.83e-06
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	HNSC	rs2167884	chr2:234449316	G/A	3.22e-04
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	BRCA	rs2167884	chr2:234449316	G/A	5.65e-10
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	BRCA	rs2167884	chr2:234449316	G/A	1.55e-05
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	BRCA	rs2167884	chr2:234449316	G/A	2.15e-05
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	KIRP	rs2167884	chr2:234449316	G/A	6.61e-05
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	KIRP	rs2167884	chr2:234449316	G/A	1.18e-04
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	LGG	rs2167884	chr2:234449316	G/A	1.85e-04
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	KIRC	rs2167884	chr2:234449316	G/A	2.38e-05
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	KIRC	rs2167884	chr2:234449316	G/A	3.02e-03
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	LUAD	rs2167884	chr2:234449316	G/A	7.83e-06
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	LUAD	rs2167884	chr2:234449316	G/A	1.03e-03
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	LIHC	rs2167884	chr2:234449316	G/A	4.05e-05
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	LIHC	rs2167884	chr2:234449316	G/A	2.79e-04
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	OV	rs2167884	chr2:234449316	G/A	4.07e-04
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	READ	rs2167884	chr2:234449316	G/A	6.07e-04
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	PRAD	rs2167884	chr2:234449316	G/A	3.04e-08
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	PRAD	rs2167884	chr2:234449316	G/A	6.18e-04
exon_skip_347456	2	234442124:234442425:234449307:234449412:234450913:234451009	234449307:234449412	ENST00000450966.1,ENST00000427112.2,ENST00000251722.6	STAD	rs2167884	chr2:234449316	G/A	3.77e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USP40

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USP40

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RelatedDrugs for USP40

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

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RelatedDiseases for USP40

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

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# 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 USP40

Exon skipping events across known transcript of Ensembl for USP40 from UCSC genome browser

Gene isoform structures and expression levels for USP40

Exon skipping events with PSIs in TCGA for USP40

Exon skipping events with PSIs in GTEx for USP40

Open reading frame (ORF) annotation in the exon skipping event for USP40

Infer the effects of exon skipping event on protein functional features for USP40

SNVs in the skipped exons for USP40

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for USP40

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USP40

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USP40

RelatedDrugs for USP40

RelatedDiseases for USP40