ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ARAP1

Gene summary

Gene information	Gene symbol	ARAP1
	Gene ID	116985
	Gene name	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1
	Synonyms	CENTD2
	Cytomap	11q13.4
	Type of gene	protein-coding
	Description	arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1ARF-GAP, RHO-GAP, ankyrin repeat, and pleckstrin homology domains-containing protein 1centaurin-delta-2cnt-d2
	Modification date	20180523
	UniProtAcc	Q96P48
	Context	PubMed: ARAP1 [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
ARAP1	GO:0043547	positive regulation of GTPase activity	11804590

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Exon skipping events across known transcript of Ensembl for ARAP1 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 ARAP1

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 ARAP1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_75383	11	72396688:72396726:72397086:72397236:72398483:72398547	72397086:72397236	ENSG00000186635.10	ENST00000359373.5,ENST00000455638.2,ENST00000495878.1,ENST00000393605.3,ENST00000544721.1,ENST00000334211.8,ENST00000465814.1,ENST00000426523.1,ENST00000393609.3,ENST00000429686.1
exon_skip_75384	11	72396688:72396726:72397139:72397236:72398483:72398547	72397139:72397236	ENSG00000186635.10	ENST00000542596.1
exon_skip_75386	11	72397139:72397236:72398483:72398547:72398732:72398783	72398483:72398547	ENSG00000186635.10	ENST00000542596.1,ENST00000536885.1,ENST00000359373.5,ENST00000455638.2,ENST00000495878.1,ENST00000393605.3,ENST00000544721.1,ENST00000334211.8,ENST00000465814.1,ENST00000426523.1,ENST00000393609.3,ENST00000429686.1
exon_skip_75391	11	72397139:72397236:72398483:72398783:72399499:72399526	72398483:72398783	ENSG00000186635.10	ENST00000541623.1
exon_skip_75398	11	72399499:72399582:72403797:72403830:72404369:72404400	72403797:72403830	ENSG00000186635.10	ENST00000393605.3,ENST00000334211.8,ENST00000465814.1,ENST00000393609.3
exon_skip_75401	11	72404369:72404515:72404736:72404850:72406024:72406085	72404736:72404850	ENSG00000186635.10	ENST00000542596.1,ENST00000544958.1,ENST00000359373.5,ENST00000455638.2,ENST00000495878.1,ENST00000393605.3,ENST00000334211.8,ENST00000465814.1,ENST00000426523.1,ENST00000393609.3,ENST00000429686.1,ENST00000543868.1
exon_skip_75403	11	72406586:72406673:72406762:72406910:72407593:72407697	72406762:72406910	ENSG00000186635.10	ENST00000359373.5,ENST00000455638.2,ENST00000495878.1,ENST00000393605.3,ENST00000334211.8,ENST00000465814.1,ENST00000426523.1,ENST00000393609.3,ENST00000429686.1
exon_skip_75406	11	72408642:72408694:72408955:72409151:72410049:72410152	72408955:72409151	ENSG00000186635.10	ENST00000452383.2,ENST00000359373.5,ENST00000455638.2,ENST00000495878.1,ENST00000393605.3,ENST00000334211.8,ENST00000427971.2,ENST00000465814.1,ENST00000426523.1,ENST00000393609.3,ENST00000429686.1
exon_skip_75409	11	72410461:72410597:72412693:72412828:72413949:72414124	72412693:72412828	ENSG00000186635.10	ENST00000452383.2,ENST00000359373.5,ENST00000455638.2,ENST00000393605.3,ENST00000334211.8,ENST00000427971.2,ENST00000465814.1,ENST00000426523.1,ENST00000393609.3,ENST00000429686.1
exon_skip_75410	11	72413949:72414124:72415196:72415379:72416849:72416935	72415196:72415379	ENSG00000186635.10	ENST00000359373.5,ENST00000455638.2,ENST00000393605.3,ENST00000334211.8,ENST00000465814.1,ENST00000426523.1,ENST00000393609.3
exon_skip_75413	11	72413949:72414124:72416849:72416935:72418219:72418419	72416849:72416935	ENSG00000186635.10	ENST00000429686.1
exon_skip_75416	11	72421429:72421632:72422065:72422186:72422474:72422544	72422065:72422186	ENSG00000186635.10	ENST00000359373.5,ENST00000455638.2,ENST00000393605.3,ENST00000334211.8,ENST00000465814.1,ENST00000426523.1,ENST00000393609.3,ENST00000429686.1
exon_skip_75421	11	72422474:72422544:72423240:72423384:72423482:72423613	72423240:72423384	ENSG00000186635.10	ENST00000359373.5,ENST00000455638.2,ENST00000393605.3,ENST00000334211.8,ENST00000465814.1,ENST00000426523.1,ENST00000393609.3,ENST00000429686.1
exon_skip_75433	11	72423482:72423613:72424220:72424288:72425196:72425275	72424220:72424288	ENSG00000186635.10	ENST00000359373.5,ENST00000455638.2,ENST00000334211.8,ENST00000426523.1,ENST00000393609.3,ENST00000429686.1
exon_skip_75440	11	72425196:72425366:72437664:72438217:72443559:72443642	72437664:72438217	ENSG00000186635.10	ENST00000359373.5,ENST00000393609.3
exon_skip_75445	11	72437664:72438217:72443559:72443642:72463372:72463448	72443559:72443642	ENSG00000186635.10	ENST00000393609.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ARAP1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_75383	11	72396688:72396726:72397086:72397236:72398483:72398547	72397086:72397236	ENSG00000186635.10	ENST00000495878.1,ENST00000359373.5,ENST00000465814.1,ENST00000455638.2,ENST00000393605.3,ENST00000334211.8,ENST00000393609.3,ENST00000426523.1,ENST00000429686.1,ENST00000544721.1
exon_skip_75386	11	72397139:72397236:72398483:72398547:72398732:72398783	72398483:72398547	ENSG00000186635.10	ENST00000495878.1,ENST00000359373.5,ENST00000465814.1,ENST00000455638.2,ENST00000393605.3,ENST00000334211.8,ENST00000393609.3,ENST00000426523.1,ENST00000429686.1,ENST00000544721.1,ENST00000542596.1,ENST00000536885.1
exon_skip_75391	11	72397139:72397236:72398483:72398783:72399499:72399526	72398483:72398783	ENSG00000186635.10	ENST00000541623.1
exon_skip_75398	11	72399499:72399582:72403797:72403830:72404369:72404400	72403797:72403830	ENSG00000186635.10	ENST00000465814.1,ENST00000393605.3,ENST00000334211.8,ENST00000393609.3
exon_skip_75401	11	72404369:72404515:72404736:72404850:72406024:72406085	72404736:72404850	ENSG00000186635.10	ENST00000495878.1,ENST00000359373.5,ENST00000465814.1,ENST00000455638.2,ENST00000393605.3,ENST00000334211.8,ENST00000393609.3,ENST00000426523.1,ENST00000429686.1,ENST00000542596.1,ENST00000544958.1,ENST00000543868.1
exon_skip_75403	11	72406586:72406673:72406762:72406910:72407593:72407697	72406762:72406910	ENSG00000186635.10	ENST00000495878.1,ENST00000359373.5,ENST00000465814.1,ENST00000455638.2,ENST00000393605.3,ENST00000334211.8,ENST00000393609.3,ENST00000426523.1,ENST00000429686.1
exon_skip_75406	11	72408642:72408694:72408955:72409151:72410049:72410152	72408955:72409151	ENSG00000186635.10	ENST00000495878.1,ENST00000359373.5,ENST00000465814.1,ENST00000455638.2,ENST00000393605.3,ENST00000334211.8,ENST00000393609.3,ENST00000426523.1,ENST00000429686.1,ENST00000427971.2,ENST00000452383.2
exon_skip_75409	11	72410461:72410597:72412693:72412828:72413949:72414124	72412693:72412828	ENSG00000186635.10	ENST00000359373.5,ENST00000465814.1,ENST00000455638.2,ENST00000393605.3,ENST00000334211.8,ENST00000393609.3,ENST00000426523.1,ENST00000429686.1,ENST00000427971.2,ENST00000452383.2
exon_skip_75410	11	72413949:72414124:72415196:72415379:72416849:72416935	72415196:72415379	ENSG00000186635.10	ENST00000359373.5,ENST00000465814.1,ENST00000455638.2,ENST00000393605.3,ENST00000334211.8,ENST00000393609.3,ENST00000426523.1
exon_skip_75413	11	72413949:72414124:72416849:72416935:72418219:72418419	72416849:72416935	ENSG00000186635.10	ENST00000429686.1
exon_skip_75416	11	72421429:72421632:72422065:72422186:72422474:72422544	72422065:72422186	ENSG00000186635.10	ENST00000359373.5,ENST00000465814.1,ENST00000455638.2,ENST00000393605.3,ENST00000334211.8,ENST00000393609.3,ENST00000426523.1,ENST00000429686.1
exon_skip_75421	11	72422474:72422544:72423240:72423384:72423482:72423613	72423240:72423384	ENSG00000186635.10	ENST00000359373.5,ENST00000465814.1,ENST00000455638.2,ENST00000393605.3,ENST00000334211.8,ENST00000393609.3,ENST00000426523.1,ENST00000429686.1
exon_skip_75433	11	72423482:72423613:72424220:72424288:72425196:72425275	72424220:72424288	ENSG00000186635.10	ENST00000359373.5,ENST00000455638.2,ENST00000334211.8,ENST00000393609.3,ENST00000426523.1,ENST00000429686.1
exon_skip_75440	11	72425196:72425366:72437664:72438217:72443559:72443642	72437664:72438217	ENSG00000186635.10	ENST00000359373.5,ENST00000393609.3
exon_skip_75445	11	72437664:72438217:72443559:72443642:72463372:72463448	72443559:72443642	ENSG00000186635.10	ENST00000393609.3

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 ARAP1

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
ENST00000393605	72398483	72398547	Frame-shift
ENST00000393605	72406762	72406910	Frame-shift
ENST00000393605	72408955	72409151	Frame-shift
ENST00000393605	72422065	72422186	Frame-shift
ENST00000393605	72397086	72397236	In-frame
ENST00000393605	72403797	72403830	In-frame
ENST00000393605	72404736	72404850	In-frame
ENST00000393605	72412693	72412828	In-frame
ENST00000393605	72415196	72415379	In-frame
ENST00000393605	72423240	72423384	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
ENST00000393605	72398483	72398547	Frame-shift
ENST00000393605	72406762	72406910	Frame-shift
ENST00000393605	72408955	72409151	Frame-shift
ENST00000393605	72422065	72422186	Frame-shift
ENST00000393605	72397086	72397236	In-frame
ENST00000393605	72403797	72403830	In-frame
ENST00000393605	72404736	72404850	In-frame
ENST00000393605	72412693	72412828	In-frame
ENST00000393605	72415196	72415379	In-frame
ENST00000393605	72423240	72423384	In-frame

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Infer the effects of exon skipping event on protein functional features for ARAP1

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
ENST00000393605	4795	1450	72423240	72423384	715	858	53	100
ENST00000393605	4795	1450	72415196	72415379	1646	1828	363	424
ENST00000393605	4795	1450	72412693	72412828	2004	2138	482	527
ENST00000393605	4795	1450	72404736	72404850	3531	3644	991	1029
ENST00000393605	4795	1450	72403797	72403830	3791	3823	1078	1089
ENST00000393605	4795	1450	72397086	72397236	4022	4171	1155	1205

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
ENST00000393605	4795	1450	72423240	72423384	715	858	53	100
ENST00000393605	4795	1450	72415196	72415379	1646	1828	363	424
ENST00000393605	4795	1450	72412693	72412828	2004	2138	482	527
ENST00000393605	4795	1450	72404736	72404850	3531	3644	991	1029
ENST00000393605	4795	1450	72403797	72403830	3791	3823	1078	1089
ENST00000393605	4795	1450	72397086	72397236	4022	4171	1155	1205

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

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

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SNVs in the skipped exons for ARAP1

- 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.

ARAP1_DLBC_exon_skip_75398_psi_boxplot.png
boxplot

ARAP1_HNSC_exon_skip_75409_psi_boxplot.png
boxplot

ARAP1_LIHC_exon_skip_75391_psi_boxplot.png
boxplot

ARAP1_SKCM_exon_skip_75383_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-A3A0-01	exon_skip_75383	72397087	72397236	72397149	72397149	Frame_Shift_Del	G	-	p.L1414fs
LIHC	TCGA-DD-A3A0-01	exon_skip_75384	72397140	72397236	72397149	72397149	Frame_Shift_Del	G	-	p.L1414fs
LIHC	TCGA-DD-A3A0-01	exon_skip_75383	72397087	72397236	72397216	72397216	Frame_Shift_Del	G	-	p.P1391fs
LIHC	TCGA-DD-A3A0-01	exon_skip_75384	72397140	72397236	72397216	72397216	Frame_Shift_Del	G	-	p.P1391fs
LIHC	TCGA-DD-A39Y-01	exon_skip_75391	72398484	72398783	72398775	72398775	Frame_Shift_Del	A	-	p.F1349fs
LIHC	TCGA-DD-A3A0-01	exon_skip_75406	72408956	72409151	72409006	72409006	Frame_Shift_Del	G	-	p.P896fs
HNSC	TCGA-CV-5973-01	exon_skip_75409	72412694	72412828	72412741	72412741	Frame_Shift_Del	T	-	p.K752fs
COAD	TCGA-A6-6653-01	exon_skip_75421	72423241	72423384	72423258	72423258	Frame_Shift_Del	G	-	p.K336fs
LIHC	TCGA-DD-A1EG-01	exon_skip_75421	72423241	72423384	72423301	72423301	Frame_Shift_Del	C	-	p.G321fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_75421	72423241	72423384	72423310	72423310	Frame_Shift_Del	G	-	p.P319fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_75421	72423241	72423384	72423321	72423321	Frame_Shift_Del	G	-	p.P314fs
UCEC	TCGA-BG-A0M4-01	exon_skip_75433	72424221	72424288	72424247	72424247	Frame_Shift_Del	C	-	p.A241fs
LIHC	TCGA-DD-A1EG-01	exon_skip_75440	72437665	72438217	72437746	72437746	Frame_Shift_Del	G	-	p.P143fs
LIHC	TCGA-4R-AA8I-01	exon_skip_75440	72437665	72438217	72437830	72437830	Frame_Shift_Del	G	-	p.P115fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_75440	72437665	72438217	72437943	72437943	Frame_Shift_Del	G	-	p.P77fs
LIHC	TCGA-RC-A6M3-01	exon_skip_75403	72406763	72406910	72406835	72406836	Frame_Shift_Ins	-	TGGGA	p.H1116fs
LIHC	TCGA-RC-A6M3-01	exon_skip_75403	72406763	72406910	72406835	72406836	Frame_Shift_Ins	-	TGGGA	p.Q1116fs
COAD	TCGA-AA-3713-01	exon_skip_75440	72437665	72438217	72437677	72437678	Frame_Shift_Ins	-	G	p.R166fs
SKCM	TCGA-EE-A3JA-06	exon_skip_75383	72397087	72397236	72397146	72397146	Nonsense_Mutation	G	A	p.R1415*
SKCM	TCGA-EE-A3JA-06	exon_skip_75383	72397087	72397236	72397146	72397146	Nonsense_Mutation	G	A	p.R1426X
SKCM	TCGA-EE-A3JA-06	exon_skip_75384	72397140	72397236	72397146	72397146	Nonsense_Mutation	G	A	p.R1415*
SKCM	TCGA-EE-A3JA-06	exon_skip_75384	72397140	72397236	72397146	72397146	Nonsense_Mutation	G	A	p.R1426X
PAAD	TCGA-IB-8126-01	exon_skip_75416	72422066	72422186	72422096	72422096	Nonsense_Mutation	G	A	p.R395*
PAAD	TCGA-IB-8126-01	exon_skip_75416	72422066	72422186	72422096	72422096	Nonsense_Mutation	G	A	p.R395X
DLBC	TCGA-G8-6324-01	exon_skip_75398	72403798	72403830	72403832	72403832	Splice_Site	T	C	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CV-5973-01
	Cancer type: HNSC
	ESID: exon_skip_75409
	Skipped exon start: 72412694
	Skipped exon end: 72412828
	Mutation start: 72412741
	Mutation end: 72412741
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.K752fs
exon_skip_300924_HNSC_TCGA-CV-5973-01.png
exon_skip_457524_HNSC_TCGA-CV-5973-01.png
exon_skip_75409_HNSC_TCGA-CV-5973-01.png
	Sample: TCGA-G8-6324-01
	Cancer type: DLBC
	ESID: exon_skip_75398
	Skipped exon start: 72403798
	Skipped exon end: 72403830
	Mutation start: 72403832
	Mutation end: 72403832
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: C
	AAchange: .
exon_skip_75398_DLBC_TCGA-G8-6324-01.png
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_75391
	Skipped exon start: 72398484
	Skipped exon end: 72398783
	Mutation start: 72398775
	Mutation end: 72398775
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.F1349fs
exon_skip_105023_LIHC_TCGA-DD-A39Y-01.png
exon_skip_101824_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106032_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106378_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106523_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106524_LIHC_TCGA-DD-A39Y-01.png
exon_skip_109527_LIHC_TCGA-DD-A39Y-01.png
exon_skip_109529_LIHC_TCGA-DD-A39Y-01.png
exon_skip_110000_LIHC_TCGA-DD-A39Y-01.png
exon_skip_11029_LIHC_TCGA-DD-A39Y-01.png
exon_skip_111893_LIHC_TCGA-DD-A39Y-01.png
exon_skip_111894_LIHC_TCGA-DD-A39Y-01.png
exon_skip_112042_LIHC_TCGA-DD-A39Y-01.png
exon_skip_112647_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114045_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114046_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114565_LIHC_TCGA-DD-A39Y-01.png
exon_skip_11916_LIHC_TCGA-DD-A39Y-01.png
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	Sample: TCGA-EE-A3JA-06
	Cancer type: SKCM
	ESID: exon_skip_75383
	Skipped exon start: 72397087
	Skipped exon end: 72397236
	Mutation start: 72397146
	Mutation end: 72397146
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R1426X
	Sample: TCGA-EE-A3JA-06
	Cancer type: SKCM
	ESID: exon_skip_75384
	Skipped exon start: 72397140
	Skipped exon end: 72397236
	Mutation start: 72397146
	Mutation end: 72397146
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R1426X
	Sample: TCGA-EE-A3JA-06
	Cancer type: SKCM
	ESID: exon_skip_75383
	Skipped exon start: 72397087
	Skipped exon end: 72397236
	Mutation start: 72397146
	Mutation end: 72397146
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R1415*
	Sample: TCGA-EE-A3JA-06
	Cancer type: SKCM
	ESID: exon_skip_75384
	Skipped exon start: 72397140
	Skipped exon end: 72397236
	Mutation start: 72397146
	Mutation end: 72397146
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R1415*
exon_skip_75383_SKCM_TCGA-EE-A3JA-06.png
exon_skip_77621_SKCM_TCGA-EE-A3JA-06.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
LS411N_LARGE_INTESTINE	72437665	72438217	72437678	72437678	Frame_Shift_Del	G	-	p.R166fs
CW2_LARGE_INTESTINE	72437665	72438217	72437678	72437678	Frame_Shift_Del	G	-	p.R166fs
KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72437665	72438217	72437725	72437725	Frame_Shift_Del	A	-	p.L150fs
SKUT1_SOFT_TISSUE	72397087	72397236	72397202	72397202	Missense_Mutation	C	T	p.R1407H
SKUT1_SOFT_TISSUE	72397140	72397236	72397202	72397202	Missense_Mutation	C	T	p.R1407H
HCE4_OESOPHAGUS	72397087	72397236	72397202	72397202	Missense_Mutation	C	T	p.R1407H
HCE4_OESOPHAGUS	72397140	72397236	72397202	72397202	Missense_Mutation	C	T	p.R1407H
NCIH1155_LUNG	72397087	72397236	72397202	72397202	Missense_Mutation	C	T	p.R1407H
NCIH1155_LUNG	72397140	72397236	72397202	72397202	Missense_Mutation	C	T	p.R1407H
BT20_BREAST	72406763	72406910	72406798	72406798	Missense_Mutation	C	T	p.E1129K
639V_URINARY_TRACT	72406763	72406910	72406798	72406798	Missense_Mutation	C	T	p.E1129K
HCT15_LARGE_INTESTINE	72406763	72406910	72406876	72406876	Missense_Mutation	C	T	p.V1103M
LNCAPCLONEFGC_PROSTATE	72408956	72409151	72409033	72409033	Missense_Mutation	C	T	p.S887N
HEC6_ENDOMETRIUM	72408956	72409151	72409034	72409034	Missense_Mutation	T	C	p.S887G
NCIH2110_LUNG	72408956	72409151	72409139	72409139	Missense_Mutation	G	A	p.P852S
HEC6_ENDOMETRIUM	72412694	72412828	72412706	72412706	Missense_Mutation	G	A	p.R764W
SNU324_PANCREAS	72412694	72412828	72412726	72412726	Missense_Mutation	C	T	p.G757D
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72412694	72412828	72412727	72412727	Missense_Mutation	C	T	p.G757S
SIHA_CERVIX	72412694	72412828	72412820	72412820	Missense_Mutation	G	A	p.R726W
SNUC4_LARGE_INTESTINE	72412694	72412828	72412820	72412820	Missense_Mutation	G	A	p.R726W
LOVO_LARGE_INTESTINE	72415197	72415379	72415238	72415238	Missense_Mutation	G	A	p.R651C
BT549_BREAST	72415197	72415379	72415238	72415238	Missense_Mutation	G	A	p.R651C
HUG1N_STOMACH	72415197	72415379	72415256	72415256	Missense_Mutation	G	A	p.R645C
NEC8_TESTIS	72415197	72415379	72415256	72415256	Missense_Mutation	G	A	p.R645C
JHUEM1_ENDOMETRIUM	72416850	72416935	72416920	72416920	Missense_Mutation	A	G	p.L580P
NCIH1155_LUNG	72422066	72422186	72422129	72422129	Missense_Mutation	C	T	p.G384R
JHH2_LIVER	72422066	72422186	72422183	72422183	Missense_Mutation	C	T	p.A366T
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72424221	72424288	72424234	72424234	Missense_Mutation	A	G	p.V245A
JHUEM1_ENDOMETRIUM	72437665	72438217	72437711	72437711	Missense_Mutation	C	T	p.V155I
GA10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72437665	72438217	72437765	72437765	Missense_Mutation	G	T	p.P137T
SNU1_STOMACH	72437665	72438217	72437861	72437861	Missense_Mutation	T	C	p.T105A
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	72437665	72438217	72437876	72437876	Missense_Mutation	C	T	p.E100K
HEC6_ENDOMETRIUM	72437665	72438217	72437917	72437917	Missense_Mutation	C	T	p.R86H
NCIH630_LARGE_INTESTINE	72437665	72438217	72437947	72437947	Missense_Mutation	C	T	p.R76H
HEC59_ENDOMETRIUM	72437665	72438217	72437962	72437962	Missense_Mutation	G	A	p.P71L
GP2D_LARGE_INTESTINE	72437665	72438217	72437974	72437974	Missense_Mutation	G	A	p.A67V
GP5D_LARGE_INTESTINE	72437665	72438217	72437974	72437974	Missense_Mutation	G	A	p.A67V
COLO792_SKIN	72437665	72438217	72438014	72438014	Missense_Mutation	G	A	p.P54S
NCIH2066_LUNG	72437665	72438217	72438021	72438021	Missense_Mutation	C	A	p.M51I
HCT15_LARGE_INTESTINE	72437665	72438217	72438116	72438116	Missense_Mutation	G	T	p.L20M
JHU028_LUNG	72437665	72438217	72438169	72438169	Missense_Mutation	G	A	p.A2V
MEWO_SKIN	72406763	72406910	72406837	72406837	Nonsense_Mutation	G	A	p.Q1116*
ES1_BONE	72412694	72412828	72412715	72412715	Nonsense_Mutation	G	A	p.Q761*
SAT_UPPER_AERODIGESTIVE_TRACT	72415197	72415379	72415214	72415214	Nonsense_Mutation	G	A	p.Q659*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARAP1

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_75410	11	72413949:72414124:72415196:72415379:72416849:72416935	72415196:72415379	ENST00000359373.5,ENST00000455638.2,ENST00000393605.3,ENST00000334211.8,ENST00000465814.1,ENST00000426523.1,ENST00000393609.3	LGG	rs2306615	chr11:72415329	G/A	2.90e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARAP1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARAP1

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RelatedDrugs for ARAP1

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 ARAP1

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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