ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for RPAP1

Gene summary

Gene information	Gene symbol	RPAP1
	Gene ID	26015
	Gene name	RNA polymerase II associated protein 1
	Synonyms	-
	Cytomap	15q15.1
	Type of gene	protein-coding
	Description	RNA polymerase II-associated protein 1
	Modification date	20180523
	UniProtAcc	Q9BWH6
	Context	PubMed: RPAP1 [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 RPAP1 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 RPAP1

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 RPAP1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_126219	15	41810203:41810380:41812588:41813345:41813935:41813989	41812588:41813345	ENSG00000103932.7	ENST00000304330.4
exon_skip_126223	15	41812588:41813345:41813935:41814078:41814295:41814448	41813935:41814078	ENSG00000103932.7	ENST00000562303.1,ENST00000304330.4
exon_skip_126230	15	41813935:41814078:41814295:41814448:41814962:41815158	41814295:41814448	ENSG00000103932.7	ENST00000562303.1,ENST00000304330.4,ENST00000561603.1
exon_skip_126233	15	41814295:41814448:41814962:41815158:41815442:41815552	41814962:41815158	ENSG00000103932.7	ENST00000562303.1,ENST00000304330.4,ENST00000561603.1
exon_skip_126238	15	41816145:41816170:41816293:41816452:41817188:41817346	41816293:41816452	ENSG00000103932.7	ENST00000562303.1,ENST00000561631.1,ENST00000304330.4,ENST00000561603.1,ENST00000565035.1
exon_skip_126239	15	41816293:41816452:41817188:41817346:41819095:41819168	41817188:41817346	ENSG00000103932.7	ENST00000562303.1,ENST00000304330.4,ENST00000561603.1
exon_skip_126240	15	41816293:41816452:41817188:41817363:41819095:41819168	41817188:41817363	ENSG00000103932.7	ENST00000565035.1
exon_skip_126241	15	41820185:41820225:41820432:41820534:41821667:41821766	41820432:41820534	ENSG00000103932.7	ENST00000562303.1,ENST00000304330.4,ENST00000568413.1,ENST00000561603.1
exon_skip_126243	15	41820432:41820534:41821667:41821766:41822061:41822177	41821667:41821766	ENSG00000103932.7	ENST00000562303.1,ENST00000304330.4,ENST00000568413.1,ENST00000561603.1
exon_skip_126244	15	41822061:41822177:41823220:41823400:41825543:41825592	41823220:41823400	ENSG00000103932.7	ENST00000568413.1
exon_skip_126245	15	41822061:41822177:41823220:41823400:41826911:41827133	41823220:41823400	ENSG00000103932.7	ENST00000562303.1,ENST00000304330.4,ENST00000561603.1
exon_skip_126247	15	41823220:41823400:41826911:41827133:41827709:41827830	41826911:41827133	ENSG00000103932.7	ENST00000562303.1,ENST00000304330.4,ENST00000561603.1
exon_skip_126249	15	41828360:41828416:41828698:41828847:41829142:41829399	41828698:41828847	ENSG00000103932.7	ENST00000562303.1,ENST00000566863.1,ENST00000304330.4,ENST00000567866.1,ENST00000561603.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for RPAP1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_126219	15	41810203:41810380:41812588:41813345:41813935:41813989	41812588:41813345	ENSG00000103932.7	ENST00000304330.4
exon_skip_126221	15	41810203:41810380:41813935:41814078:41814295:41814448	41813935:41814078	ENSG00000103932.7	ENST00000561603.1
exon_skip_126223	15	41812588:41813345:41813935:41814078:41814295:41814448	41813935:41814078	ENSG00000103932.7	ENST00000304330.4,ENST00000562303.1
exon_skip_126230	15	41813935:41814078:41814295:41814448:41814962:41815158	41814295:41814448	ENSG00000103932.7	ENST00000561603.1,ENST00000304330.4,ENST00000562303.1
exon_skip_126233	15	41814295:41814448:41814962:41815158:41815442:41815552	41814962:41815158	ENSG00000103932.7	ENST00000561603.1,ENST00000304330.4,ENST00000562303.1
exon_skip_126238	15	41816145:41816170:41816293:41816452:41817188:41817346	41816293:41816452	ENSG00000103932.7	ENST00000561603.1,ENST00000304330.4,ENST00000562303.1,ENST00000565035.1,ENST00000561631.1
exon_skip_126239	15	41816293:41816452:41817188:41817346:41819095:41819168	41817188:41817346	ENSG00000103932.7	ENST00000561603.1,ENST00000304330.4,ENST00000562303.1
exon_skip_126240	15	41816293:41816452:41817188:41817363:41819095:41819168	41817188:41817363	ENSG00000103932.7	ENST00000565035.1
exon_skip_126241	15	41820185:41820225:41820432:41820534:41821667:41821766	41820432:41820534	ENSG00000103932.7	ENST00000561603.1,ENST00000304330.4,ENST00000562303.1,ENST00000568413.1
exon_skip_126243	15	41820432:41820534:41821667:41821766:41822061:41822177	41821667:41821766	ENSG00000103932.7	ENST00000561603.1,ENST00000304330.4,ENST00000562303.1,ENST00000568413.1
exon_skip_126244	15	41822061:41822177:41823220:41823400:41825543:41825592	41823220:41823400	ENSG00000103932.7	ENST00000568413.1
exon_skip_126245	15	41822061:41822177:41823220:41823400:41826911:41827133	41823220:41823400	ENSG00000103932.7	ENST00000561603.1,ENST00000304330.4,ENST00000562303.1
exon_skip_126247	15	41823220:41823400:41826911:41827133:41827709:41827830	41826911:41827133	ENSG00000103932.7	ENST00000561603.1,ENST00000304330.4,ENST00000562303.1
exon_skip_126249	15	41828360:41828416:41828698:41828847:41829142:41829399	41828698:41828847	ENSG00000103932.7	ENST00000561603.1,ENST00000304330.4,ENST00000562303.1,ENST00000567866.1,ENST00000566863.1

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 RPAP1

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
ENST00000304330	41812588	41813345	Frame-shift
ENST00000304330	41813935	41814078	Frame-shift
ENST00000304330	41814962	41815158	Frame-shift
ENST00000304330	41817188	41817346	Frame-shift
ENST00000304330	41828698	41828847	Frame-shift
ENST00000304330	41814295	41814448	In-frame
ENST00000304330	41816293	41816452	In-frame
ENST00000304330	41820432	41820534	In-frame
ENST00000304330	41821667	41821766	In-frame
ENST00000304330	41823220	41823400	In-frame
ENST00000304330	41826911	41827133	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
ENST00000304330	41812588	41813345	Frame-shift
ENST00000304330	41813935	41814078	Frame-shift
ENST00000304330	41814962	41815158	Frame-shift
ENST00000304330	41817188	41817346	Frame-shift
ENST00000304330	41828698	41828847	Frame-shift
ENST00000304330	41814295	41814448	In-frame
ENST00000304330	41816293	41816452	In-frame
ENST00000304330	41820432	41820534	In-frame
ENST00000304330	41821667	41821766	In-frame
ENST00000304330	41823220	41823400	In-frame
ENST00000304330	41826911	41827133	In-frame

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Infer the effects of exon skipping event on protein functional features for RPAP1

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
ENST00000304330	4682	1393	41826911	41827133	659	880	180	254
ENST00000304330	4682	1393	41823220	41823400	881	1060	254	314
ENST00000304330	4682	1393	41821667	41821766	1177	1275	353	386
ENST00000304330	4682	1393	41820432	41820534	1276	1377	386	420
ENST00000304330	4682	1393	41816293	41816452	2193	2351	692	744
ENST00000304330	4682	1393	41814295	41814448	2860	3012	914	965

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
ENST00000304330	4682	1393	41826911	41827133	659	880	180	254
ENST00000304330	4682	1393	41823220	41823400	881	1060	254	314
ENST00000304330	4682	1393	41821667	41821766	1177	1275	353	386
ENST00000304330	4682	1393	41820432	41820534	1276	1377	386	420
ENST00000304330	4682	1393	41816293	41816452	2193	2351	692	744
ENST00000304330	4682	1393	41814295	41814448	2860	3012	914	965

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
Q9BWH6	180	254	1	621	Alternative sequence	ID=VSP_024679;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BWH6	180	254	1	1393	Chain	ID=PRO_0000284841;Note=RNA polymerase II-associated protein 1
Q9BWH6	254	314	1	621	Alternative sequence	ID=VSP_024679;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BWH6	254	314	1	1393	Chain	ID=PRO_0000284841;Note=RNA polymerase II-associated protein 1
Q9BWH6	353	386	1	621	Alternative sequence	ID=VSP_024679;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BWH6	353	386	1	1393	Chain	ID=PRO_0000284841;Note=RNA polymerase II-associated protein 1
Q9BWH6	386	420	1	621	Alternative sequence	ID=VSP_024679;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BWH6	386	420	1	1393	Chain	ID=PRO_0000284841;Note=RNA polymerase II-associated protein 1
Q9BWH6	692	744	1	1393	Chain	ID=PRO_0000284841;Note=RNA polymerase II-associated protein 1
Q9BWH6	914	965	1	1393	Chain	ID=PRO_0000284841;Note=RNA polymerase II-associated protein 1
Q9BWH6	914	965	827	1286	Compositional bias	Note=Leu-rich

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
Q9BWH6	180	254	1	621	Alternative sequence	ID=VSP_024679;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BWH6	180	254	1	1393	Chain	ID=PRO_0000284841;Note=RNA polymerase II-associated protein 1
Q9BWH6	254	314	1	621	Alternative sequence	ID=VSP_024679;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BWH6	254	314	1	1393	Chain	ID=PRO_0000284841;Note=RNA polymerase II-associated protein 1
Q9BWH6	353	386	1	621	Alternative sequence	ID=VSP_024679;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BWH6	353	386	1	1393	Chain	ID=PRO_0000284841;Note=RNA polymerase II-associated protein 1
Q9BWH6	386	420	1	621	Alternative sequence	ID=VSP_024679;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BWH6	386	420	1	1393	Chain	ID=PRO_0000284841;Note=RNA polymerase II-associated protein 1
Q9BWH6	692	744	1	1393	Chain	ID=PRO_0000284841;Note=RNA polymerase II-associated protein 1
Q9BWH6	914	965	1	1393	Chain	ID=PRO_0000284841;Note=RNA polymerase II-associated protein 1
Q9BWH6	914	965	827	1286	Compositional bias	Note=Leu-rich

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SNVs in the skipped exons for RPAP1

- 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.

RPAP1_LUSC_exon_skip_126247_psi_boxplot.png
boxplot

RPAP1_STAD_exon_skip_126223_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_126219	41812589	41813345	41813328	41813328	Frame_Shift_Del	C	-	p.G1019fs
LIHC	TCGA-DD-A3A0-01	exon_skip_126223	41813936	41814078	41814009	41814009	Frame_Shift_Del	G	-	p.R989fs
BLCA	TCGA-UY-A78N-01	exon_skip_126243	41821668	41821766	41821681	41821691	Frame_Shift_Del	CCATGGTGGTG	-	p.HHHG379fs
LIHC	TCGA-DD-A3A0-01	exon_skip_126244 exon_skip_126245	41823221	41823400	41823267	41823267	Frame_Shift_Del	A	-	p.F299fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_126244 exon_skip_126245	41823221	41823400	41823267	41823267	Frame_Shift_Del	A	-	p.F299fs
HNSC	TCGA-CV-5436-01	exon_skip_126230	41814296	41814448	41814429	41814430	Frame_Shift_Ins	-	C	p.A921fs
HNSC	TCGA-CV-5436-01	exon_skip_126230	41814296	41814448	41814429	41814430	Frame_Shift_Ins	-	C	p.P921fs
COAD	TCGA-AA-3492-01	exon_skip_126233	41814963	41815158	41815100	41815101	Frame_Shift_Ins	-	G	p.S869fs
STAD	TCGA-BR-4361-01	exon_skip_126233	41814963	41815158	41815100	41815101	Frame_Shift_Ins	-	G	p.P868fs
STAD	TCGA-BR-4361-01	exon_skip_126233	41814963	41815158	41815100	41815101	Frame_Shift_Ins	-	G	p.S869fs
STAD	TCGA-BR-4361-01	exon_skip_126233	41814963	41815158	41815101	41815102	Frame_Shift_Ins	-	G	p.P868fs
STAD	TCGA-VQ-A8P2-01	exon_skip_126219	41812589	41813345	41813152	41813152	Nonsense_Mutation	G	A	p.R1078*
STAD	TCGA-VQ-A8P2-01	exon_skip_126219	41812589	41813345	41813152	41813152	Nonsense_Mutation	G	A	p.R1078X
COAD	TCGA-A6-5661-01	exon_skip_126223	41813936	41814078	41813997	41813997	Nonsense_Mutation	C	A	p.G993X
STAD	TCGA-HU-A4GT-01	exon_skip_126230	41814296	41814448	41814328	41814328	Nonsense_Mutation	G	A	p.Q955*
CESC	TCGA-Q1-A73O-01	exon_skip_126233	41814963	41815158	41815045	41815045	Nonsense_Mutation	G	C	p.S887*
SKCM	TCGA-D3-A8GK-06	exon_skip_126238	41816294	41816452	41816385	41816385	Nonsense_Mutation	G	A	p.Q715*
BRCA	TCGA-BH-A18P-01	exon_skip_126243	41821668	41821766	41821754	41821754	Nonsense_Mutation	G	A	p.R358*
LUAD	TCGA-97-7554-01	exon_skip_126244 exon_skip_126245	41823221	41823400	41823359	41823359	Nonsense_Mutation	G	A	p.Q269*
STAD	TCGA-CD-A4MG-01	exon_skip_126223	41813936	41814078	41813935	41813935	Splice_Site	C	T	.
STAD	TCGA-CD-A4MG-01	exon_skip_126223	41813936	41814078	41813935	41813935	Splice_Site	C	T	p.P1013_splice
LUSC	TCGA-63-6202-01	exon_skip_126247	41826912	41827133	41827134	41827134	Splice_Site	C	T	p.G181_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-63-6202-01
	Cancer type: LUSC
	ESID: exon_skip_126247
	Skipped exon start: 41826912
	Skipped exon end: 41827133
	Mutation start: 41827134
	Mutation end: 41827134
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: p.G181_splice
exon_skip_114927_LUSC_TCGA-63-6202-01.png
exon_skip_114929_LUSC_TCGA-63-6202-01.png
exon_skip_126247_LUSC_TCGA-63-6202-01.png
	Sample: TCGA-CD-A4MG-01
	Cancer type: STAD
	ESID: exon_skip_126223
	Skipped exon start: 41813936
	Skipped exon end: 41814078
	Mutation start: 41813935
	Mutation end: 41813935
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: .
	Sample: TCGA-CD-A4MG-01
	Cancer type: STAD
	ESID: exon_skip_126223
	Skipped exon start: 41813936
	Skipped exon end: 41814078
	Mutation start: 41813935
	Mutation end: 41813935
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: p.P1013_splice
exon_skip_126223_STAD_TCGA-CD-A4MG-01.png
exon_skip_140893_STAD_TCGA-CD-A4MG-01.png
exon_skip_149455_STAD_TCGA-CD-A4MG-01.png
exon_skip_27769_STAD_TCGA-CD-A4MG-01.png
exon_skip_373886_STAD_TCGA-CD-A4MG-01.png
exon_skip_4028_STAD_TCGA-CD-A4MG-01.png
exon_skip_434040_STAD_TCGA-CD-A4MG-01.png
exon_skip_452918_STAD_TCGA-CD-A4MG-01.png
exon_skip_460764_STAD_TCGA-CD-A4MG-01.png
exon_skip_460769_STAD_TCGA-CD-A4MG-01.png
exon_skip_464126_STAD_TCGA-CD-A4MG-01.png
exon_skip_467032_STAD_TCGA-CD-A4MG-01.png
exon_skip_477308_STAD_TCGA-CD-A4MG-01.png
exon_skip_493826_STAD_TCGA-CD-A4MG-01.png
exon_skip_493827_STAD_TCGA-CD-A4MG-01.png
exon_skip_499045_STAD_TCGA-CD-A4MG-01.png
exon_skip_63587_STAD_TCGA-CD-A4MG-01.png
exon_skip_74321_STAD_TCGA-CD-A4MG-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
JHUEM1_ENDOMETRIUM	41812589	41813345	41813033	41813033	Frame_Shift_Del	G	-	p.P1117fs
MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41828699	41828847	41828835	41828835	Frame_Shift_Del	A	-	p.L65fs
IM95_STOMACH	41812589	41813345	41812606	41812606	Missense_Mutation	T	C	p.S1260G
GP2D_LARGE_INTESTINE	41812589	41813345	41812657	41812657	Missense_Mutation	T	C	p.T1243A
GP5D_LARGE_INTESTINE	41812589	41813345	41812657	41812657	Missense_Mutation	T	C	p.T1243A
IGROV1_OVARY	41812589	41813345	41812660	41812660	Missense_Mutation	C	T	p.V1242I
RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41812589	41813345	41812671	41812671	Missense_Mutation	C	A	p.R1238L
IPC298_SKIN	41812589	41813345	41812779	41812779	Missense_Mutation	G	A	p.P1202L
SNU407_LARGE_INTESTINE	41812589	41813345	41812815	41812815	Missense_Mutation	T	G	p.Q1190P
EN_ENDOMETRIUM	41812589	41813345	41812815	41812815	Missense_Mutation	T	C	p.Q1190R
NCIH2444_LUNG	41812589	41813345	41812911	41812911	Missense_Mutation	C	T	p.R1158Q
C33A_CERVIX	41812589	41813345	41812912	41812912	Missense_Mutation	G	A	p.R1158W
HEC151_ENDOMETRIUM	41812589	41813345	41812956	41812956	Missense_Mutation	C	T	p.R1143H
KNS62_LUNG	41812589	41813345	41812964	41812964	Missense_Mutation	C	A	p.E1140D
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41812589	41813345	41813106	41813106	Missense_Mutation	G	A	p.T1093M
NCIH520_LUNG	41812589	41813345	41813237	41813238	Missense_Mutation	GC	AA	p.C1049F
NCIH520_LUNG	41812589	41813345	41813238	41813238	Missense_Mutation	C	A	p.C1049F
LS411N_LARGE_INTESTINE	41812589	41813345	41813259	41813259	Missense_Mutation	C	T	p.G1042E
NCIBL2087_MATCHED_NORMAL_TISSUE	41812589	41813345	41813271	41813271	Missense_Mutation	C	T	p.R1038Q
NCIH2087_LUNG	41812589	41813345	41813271	41813271	Missense_Mutation	C	T	p.R1038Q
SNU1040_LARGE_INTESTINE	41812589	41813345	41813304	41813304	Missense_Mutation	T	A	p.D1027V
HT115_LARGE_INTESTINE	41812589	41813345	41813309	41813309	Missense_Mutation	G	T	p.F1025L
KYSE150_OESOPHAGUS	41812589	41813345	41813338	41813338	Missense_Mutation	T	A	p.T1016S
DU145_PROSTATE	41813936	41814078	41814026	41814026	Missense_Mutation	G	A	p.A983V
MERO83_LUNG	41813936	41814078	41814036	41814036	Missense_Mutation	G	A	p.H980Y
LN235_CENTRAL_NERVOUS_SYSTEM	41813936	41814078	41814067	41814067	Missense_Mutation	C	A	p.Q969H
NCIH3255_LUNG	41813936	41814078	41814074	41814074	Missense_Mutation	G	A	p.A967V
RXF393_KIDNEY	41814296	41814448	41814366	41814366	Missense_Mutation	G	A	p.P942L
TGW_AUTONOMIC_GANGLIA	41814963	41815158	41815049	41815049	Missense_Mutation	C	T	p.G886S
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41814963	41815158	41815064	41815064	Missense_Mutation	G	A	p.R881C
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41814963	41815158	41815072	41815072	Missense_Mutation	C	T	p.G878D
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41816294	41816452	41816321	41816321	Missense_Mutation	G	A	p.A736V
NB14_AUTONOMIC_GANGLIA	41816294	41816452	41816354	41816354	Missense_Mutation	A	T	p.L725Q
NCIH2110_LUNG	41816294	41816452	41816406	41816406	Missense_Mutation	C	G	p.E708Q
KATOIII_STOMACH	41816294	41816452	41816408	41816408	Missense_Mutation	C	A	p.R707L
SNU1040_LARGE_INTESTINE	41816294	41816452	41816430	41816430	Missense_Mutation	G	A	p.R700W
HEC59_ENDOMETRIUM	41817189	41817346	41817238	41817238	Missense_Mutation	G	A	p.R676C
HEC59_ENDOMETRIUM	41817189	41817363	41817238	41817238	Missense_Mutation	G	A	p.R676C
HUH7_LIVER	41817189	41817346	41817267	41817268	Missense_Mutation	TC	AT	p.E666I
HUH7_LIVER	41817189	41817363	41817267	41817268	Missense_Mutation	TC	AT	p.E666I
NCIH2110_LUNG	41817189	41817346	41817301	41817301	Missense_Mutation	C	G	p.E655Q
NCIH2110_LUNG	41817189	41817363	41817301	41817301	Missense_Mutation	C	G	p.E655Q
MCC13_SKIN	41820433	41820534	41820520	41820521	Missense_Mutation	GG	AA	p.S391F
MCC13_SKIN	41820433	41820534	41820521	41820521	Missense_Mutation	G	A	p.S391F
NCIH513_PLEURA	41821668	41821766	41821763	41821763	Missense_Mutation	T	A	p.M355L
HT55_LARGE_INTESTINE	41823221	41823400	41823281	41823281	Missense_Mutation	G	T	p.L295I
UACC893_BREAST	41823221	41823400	41823301	41823301	Missense_Mutation	T	C	p.N288S
SKNMC_BONE	41826912	41827133	41826927	41826927	Missense_Mutation	A	C	p.L250V
MCIXC_AUTONOMIC_GANGLIA	41826912	41827133	41826927	41826927	Missense_Mutation	A	C	p.L250V
A2780_OVARY	41826912	41827133	41826965	41826965	Missense_Mutation	G	A	p.A237V
ESO26_OESOPHAGUS	41826912	41827133	41826980	41826980	Missense_Mutation	A	C	p.I232R
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41826912	41827133	41827062	41827062	Missense_Mutation	G	C	p.Q205E
BICR18_UPPER_AERODIGESTIVE_TRACT	41828699	41828847	41828710	41828710	Missense_Mutation	T	A	p.T107S
SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	41828699	41828847	41828721	41828721	Missense_Mutation	G	A	p.T103I
GP2D_LARGE_INTESTINE	41814296	41814448	41814353	41814353	Nonsense_Mutation	C	T	p.W946*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RPAP1

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_126240	15	41816293:41816452:41817188:41817363:41819095:41819168	41817188:41817363	ENST00000565035.1	LGG	rs2274858	chr15:41817367	A/G	3.38e-04
exon_skip_126240	15	41816293:41816452:41817188:41817363:41819095:41819168	41817188:41817363	ENST00000565035.1	PRAD	rs2274858	chr15:41817367	A/G	1.63e-04
exon_skip_126240	15	41816293:41816452:41817188:41817363:41819095:41819168	41817188:41817363	ENST00000565035.1	THCA	rs2274858	chr15:41817367	A/G	5.20e-04
exon_skip_126243	15	41820432:41820534:41821667:41821766:41822061:41822177	41821667:41821766	ENST00000562303.1,ENST00000304330.4,ENST00000568413.1,ENST00000561603.1	LGG	rs1200349	chr15:41821752	C/T	1.45e-05
exon_skip_126243	15	41820432:41820534:41821667:41821766:41822061:41822177	41821667:41821766	ENST00000562303.1,ENST00000304330.4,ENST00000568413.1,ENST00000561603.1	LUSC	rs1200349	chr15:41821752	C/T	2.65e-04
exon_skip_126243	15	41820432:41820534:41821667:41821766:41822061:41822177	41821667:41821766	ENST00000562303.1,ENST00000304330.4,ENST00000568413.1,ENST00000561603.1	PRAD	rs1200349	chr15:41821752	C/T	1.47e-04
exon_skip_126243	15	41820432:41820534:41821667:41821766:41822061:41822177	41821667:41821766	ENST00000562303.1,ENST00000304330.4,ENST00000568413.1,ENST00000561603.1	THCA	rs1200349	chr15:41821752	C/T	3.90e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPAP1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPAP1

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RelatedDrugs for RPAP1

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 RPAP1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

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

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Gene summary for RPAP1

Exon skipping events across known transcript of Ensembl for RPAP1 from UCSC genome browser

Gene isoform structures and expression levels for RPAP1

Exon skipping events with PSIs in TCGA for RPAP1

Exon skipping events with PSIs in GTEx for RPAP1

Open reading frame (ORF) annotation in the exon skipping event for RPAP1

Infer the effects of exon skipping event on protein functional features for RPAP1

SNVs in the skipped exons for RPAP1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RPAP1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPAP1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPAP1

RelatedDrugs for RPAP1

RelatedDiseases for RPAP1