ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for AGAP1

Gene summary

Gene information	Gene symbol	AGAP1
	Gene ID	116987
	Gene name	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
	Synonyms	AGAP-1\|CENTG2\|GGAP1\|cnt-g2
	Cytomap	2q37.2
	Type of gene	protein-coding
	Description	arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 1GTP-binding and GTPase-activating protein 1centaurin, gamma 2
	Modification date	20180523
	UniProtAcc	Q9UPQ3
	Context	PubMed: AGAP1 [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 AGAP1 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 AGAP1

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 AGAP1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_335094	2	236402750:236403493:236617822:236617881:236626200:236626288	236617822:236617881	ENSG00000157985.13	ENST00000336665.5,ENST00000304032.8
exon_skip_335098	2	236617822:236617881:236626200:236626288:236649606:236649692	236626200:236626288	ENSG00000157985.13	ENST00000409538.1,ENST00000336665.5,ENST00000304032.8,ENST00000402604.2,ENST00000409457.1
exon_skip_335100	2	236653407:236653483:236658997:236659132:236706402:236706530	236658997:236659132	ENSG00000157985.13	ENST00000409538.1,ENST00000428334.2,ENST00000336665.5,ENST00000304032.8,ENST00000409457.1
exon_skip_335101	2	236706402:236706530:236708010:236708166:236715882:236715975	236708010:236708166	ENSG00000157985.13	ENST00000409538.1,ENST00000428334.2,ENST00000336665.5,ENST00000304032.8,ENST00000409457.1
exon_skip_335102	2	236715882:236715975:236791988:236792093:236817381:236817550	236791988:236792093	ENSG00000157985.13	ENST00000409538.1,ENST00000428334.2,ENST00000336665.5,ENST00000304032.8
exon_skip_335103	2	236792038:236792093:236817381:236817550:236839408:236839567	236817381:236817550	ENSG00000157985.13	ENST00000448025.1,ENST00000428334.2,ENST00000304032.8
exon_skip_335104	2	236792038:236792093:236817381:236817550:236877105:236877267	236817381:236817550	ENSG00000157985.13	ENST00000409538.1,ENST00000336665.5
exon_skip_335106	2	236817485:236817550:236839408:236839567:236877105:236877267	236839408:236839567	ENSG00000157985.13	ENST00000448025.1,ENST00000428334.2,ENST00000304032.8
exon_skip_335109	2	236817485:236817550:236877105:236877267:236945204:236945341	236877105:236877267	ENSG00000157985.13	ENST00000409538.1,ENST00000336665.5
exon_skip_335111	2	236839408:236839567:236877105:236877267:236945204:236945341	236877105:236877267	ENSG00000157985.13	ENST00000428334.2,ENST00000304032.8
exon_skip_335113	2	236877111:236877267:236923448:236923523:236945204:236945341	236923448:236923523	ENSG00000157985.13	ENST00000418654.1,ENST00000448025.1
exon_skip_335116	2	236957702:236957925:237028835:237029091:237032562:237033319	237028835:237029091	ENSG00000157985.13	ENST00000409538.1,ENST00000428334.2,ENST00000336665.5,ENST00000304032.8,ENST00000453371.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for AGAP1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_335098	2	236617822:236617881:236626200:236626288:236649606:236649692	236626200:236626288	ENSG00000157985.13	ENST00000409457.1,ENST00000336665.5,ENST00000304032.8,ENST00000402604.2,ENST00000409538.1
exon_skip_335100	2	236653407:236653483:236658997:236659132:236706402:236706530	236658997:236659132	ENSG00000157985.13	ENST00000409457.1,ENST00000336665.5,ENST00000304032.8,ENST00000409538.1,ENST00000428334.2
exon_skip_335101	2	236706402:236706530:236708010:236708166:236715882:236715975	236708010:236708166	ENSG00000157985.13	ENST00000409457.1,ENST00000336665.5,ENST00000304032.8,ENST00000409538.1,ENST00000428334.2
exon_skip_335102	2	236715882:236715975:236791988:236792093:236817381:236817550	236791988:236792093	ENSG00000157985.13	ENST00000336665.5,ENST00000304032.8,ENST00000409538.1,ENST00000428334.2
exon_skip_335103	2	236792038:236792093:236817381:236817550:236839408:236839567	236817381:236817550	ENSG00000157985.13	ENST00000304032.8,ENST00000428334.2,ENST00000448025.1
exon_skip_335104	2	236792038:236792093:236817381:236817550:236877105:236877267	236817381:236817550	ENSG00000157985.13	ENST00000336665.5,ENST00000409538.1
exon_skip_335106	2	236817485:236817550:236839408:236839567:236877105:236877267	236839408:236839567	ENSG00000157985.13	ENST00000304032.8,ENST00000428334.2,ENST00000448025.1
exon_skip_335109	2	236817485:236817550:236877105:236877267:236945204:236945341	236877105:236877267	ENSG00000157985.13	ENST00000336665.5,ENST00000409538.1
exon_skip_335111	2	236839408:236839567:236877105:236877267:236945204:236945341	236877105:236877267	ENSG00000157985.13	ENST00000304032.8,ENST00000428334.2
exon_skip_335113	2	236877111:236877267:236923448:236923523:236945204:236945341	236923448:236923523	ENSG00000157985.13	ENST00000448025.1,ENST00000418654.1
exon_skip_335115	2	236949394:236949485:236957702:236957925:237028835:237028890	236957702:236957925	ENSG00000157985.13	ENST00000336665.5,ENST00000304032.8,ENST00000409538.1,ENST00000428334.2,ENST00000418654.1,ENST00000466575.1
exon_skip_335116	2	236957702:236957925:237028835:237029091:237032562:237033319	237028835:237029091	ENSG00000157985.13	ENST00000336665.5,ENST00000304032.8,ENST00000409538.1,ENST00000428334.2,ENST00000453371.1

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 AGAP1

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
ENST00000304032	236617822	236617881	Frame-shift
ENST00000304032	236626200	236626288	Frame-shift
ENST00000304032	236817381	236817550	Frame-shift
ENST00000304032	237028835	237029091	Frame-shift
ENST00000304032	236658997	236659132	In-frame
ENST00000304032	236708010	236708166	In-frame
ENST00000304032	236791988	236792093	In-frame
ENST00000304032	236839408	236839567	In-frame
ENST00000304032	236877105	236877267	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
ENST00000304032	236626200	236626288	Frame-shift
ENST00000304032	236817381	236817550	Frame-shift
ENST00000304032	236957702	236957925	Frame-shift
ENST00000304032	237028835	237029091	Frame-shift
ENST00000304032	236658997	236659132	In-frame
ENST00000304032	236708010	236708166	In-frame
ENST00000304032	236791988	236792093	In-frame
ENST00000304032	236839408	236839567	In-frame
ENST00000304032	236877105	236877267	In-frame

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Infer the effects of exon skipping event on protein functional features for AGAP1

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
ENST00000304032	10849	857	236658997	236659132	1119	1253	179	224
ENST00000304032	10849	857	236708010	236708166	1382	1537	267	319
ENST00000304032	10849	857	236791988	236792093	1631	1735	350	385
ENST00000304032	10849	857	236839408	236839567	1905	2063	441	494
ENST00000304032	10849	857	236877105	236877267	2064	2225	494	548

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
ENST00000304032	10849	857	236658997	236659132	1119	1253	179	224
ENST00000304032	10849	857	236708010	236708166	1382	1537	267	319
ENST00000304032	10849	857	236791988	236792093	1631	1735	350	385
ENST00000304032	10849	857	236839408	236839567	1905	2063	441	494
ENST00000304032	10849	857	236877105	236877267	2064	2225	494	548

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
Q9UPQ3	179	224	1	857	Chain	ID=PRO_0000074218;Note=Arf-GAP with GTPase%2C ANK repeat and PH domain-containing protein 1
Q9UPQ3	179	224	178	181	Nucleotide binding	Note=GTP;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UPQ3	179	224	66	276	Region	Note=Small GTPase-like
Q9UPQ3	267	319	1	857	Chain	ID=PRO_0000074218;Note=Arf-GAP with GTPase%2C ANK repeat and PH domain-containing protein 1
Q9UPQ3	267	319	66	276	Region	Note=Small GTPase-like
Q9UPQ3	267	319	288	288	Sequence conflict	Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UPQ3	267	319	288	288	Sequence conflict	Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UPQ3	267	319	288	288	Sequence conflict	Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UPQ3	350	385	352	405	Alternative sequence	ID=VSP_011181;Note=In isoform 3. MLLKRSGKSLNKEWKKKYVTLCDNGVLTYHPSLHDYMQNVHGKEIDLLRTTVKV->LPFFVLALTASTYLRPAGARARQSSPWPGPRGGQTSPHCAEGPQSAQLSGAMMN;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9UPQ3	350	385	1	857	Chain	ID=PRO_0000074218;Note=Arf-GAP with GTPase%2C ANK repeat and PH domain-containing protein 1
Q9UPQ3	350	385	346	588	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q9UPQ3	441	494	406	857	Alternative sequence	ID=VSP_011182;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9UPQ3	441	494	442	494	Alternative sequence	ID=VSP_011183;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10470851,ECO:0000303\|PubMed:12640130,ECO:0000303\|Ref.2;Dbxref=PMID:10470851,PMID:12640130
Q9UPQ3	441	494	1	857	Chain	ID=PRO_0000074218;Note=Arf-GAP with GTPase%2C ANK repeat and PH domain-containing protein 1
Q9UPQ3	441	494	346	588	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q9UPQ3	494	548	406	857	Alternative sequence	ID=VSP_011182;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9UPQ3	494	548	442	494	Alternative sequence	ID=VSP_011183;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10470851,ECO:0000303\|PubMed:12640130,ECO:0000303\|Ref.2;Dbxref=PMID:10470851,PMID:12640130
Q9UPQ3	494	548	1	857	Chain	ID=PRO_0000074218;Note=Arf-GAP with GTPase%2C ANK repeat and PH domain-containing protein 1
Q9UPQ3	494	548	346	588	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q9UPQ3	494	548	521	521	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569

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
Q9UPQ3	179	224	1	857	Chain	ID=PRO_0000074218;Note=Arf-GAP with GTPase%2C ANK repeat and PH domain-containing protein 1
Q9UPQ3	179	224	178	181	Nucleotide binding	Note=GTP;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UPQ3	179	224	66	276	Region	Note=Small GTPase-like
Q9UPQ3	267	319	1	857	Chain	ID=PRO_0000074218;Note=Arf-GAP with GTPase%2C ANK repeat and PH domain-containing protein 1
Q9UPQ3	267	319	66	276	Region	Note=Small GTPase-like
Q9UPQ3	267	319	288	288	Sequence conflict	Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UPQ3	267	319	288	288	Sequence conflict	Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UPQ3	267	319	288	288	Sequence conflict	Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UPQ3	350	385	352	405	Alternative sequence	ID=VSP_011181;Note=In isoform 3. MLLKRSGKSLNKEWKKKYVTLCDNGVLTYHPSLHDYMQNVHGKEIDLLRTTVKV->LPFFVLALTASTYLRPAGARARQSSPWPGPRGGQTSPHCAEGPQSAQLSGAMMN;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9UPQ3	350	385	1	857	Chain	ID=PRO_0000074218;Note=Arf-GAP with GTPase%2C ANK repeat and PH domain-containing protein 1
Q9UPQ3	350	385	346	588	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q9UPQ3	441	494	406	857	Alternative sequence	ID=VSP_011182;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9UPQ3	441	494	442	494	Alternative sequence	ID=VSP_011183;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10470851,ECO:0000303\|PubMed:12640130,ECO:0000303\|Ref.2;Dbxref=PMID:10470851,PMID:12640130
Q9UPQ3	441	494	1	857	Chain	ID=PRO_0000074218;Note=Arf-GAP with GTPase%2C ANK repeat and PH domain-containing protein 1
Q9UPQ3	441	494	346	588	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q9UPQ3	494	548	406	857	Alternative sequence	ID=VSP_011182;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9UPQ3	494	548	442	494	Alternative sequence	ID=VSP_011183;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10470851,ECO:0000303\|PubMed:12640130,ECO:0000303\|Ref.2;Dbxref=PMID:10470851,PMID:12640130
Q9UPQ3	494	548	1	857	Chain	ID=PRO_0000074218;Note=Arf-GAP with GTPase%2C ANK repeat and PH domain-containing protein 1
Q9UPQ3	494	548	346	588	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q9UPQ3	494	548	521	521	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569

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SNVs in the skipped exons for AGAP1

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A3A0-01	exon_skip_335100	236658998	236659132	236659022	236659022	Frame_Shift_Del	G	-	p.R453fs
LIHC	TCGA-DD-A39Y-01	exon_skip_335104 exon_skip_335103	236817382	236817550	236817496	236817496	Frame_Shift_Del	A	-	p.K689fs
LIHC	TCGA-DD-A3A0-01	exon_skip_335111 exon_skip_335109	236877106	236877267	236877137	236877137	Frame_Shift_Del	C	-	p.S717fs
STAD	TCGA-BR-8078-01	exon_skip_335111 exon_skip_335109	236877106	236877267	236877177	236877177	Frame_Shift_Del	C	-	p.P518fs
HNSC	TCGA-CR-5249-01	exon_skip_335104 exon_skip_335103	236817382	236817550	236817460	236817461	Frame_Shift_Ins	-	G	p.S677fs
SKCM	TCGA-ER-A42L-06	exon_skip_335094	236617823	236617881	236617840	236617840	Nonsense_Mutation	C	T	p.Q326*
LGG	TCGA-HT-7611-01	exon_skip_335098	236626201	236626288	236626276	236626276	Nonsense_Mutation	G	T	p.E100X
LGG	TCGA-HT-7611-01	exon_skip_335098	236626201	236626288	236626276	236626276	Nonsense_Mutation	G	T	p.E365*
BRCA	TCGA-BH-A0WA-01	exon_skip_335111 exon_skip_335109	236877106	236877267	236877203	236877203	Nonsense_Mutation	G	T	p.E55*
THYM	TCGA-3S-AAYX-01	exon_skip_335116	237028836	237029091	237029017	237029017	Nonsense_Mutation	G	T	p.E978*
SKCM	TCGA-EE-A3J5-06	exon_skip_335104 exon_skip_335103	236817382	236817550	236817381	236817381	Splice_Site	G	A	.
STAD	TCGA-CG-4437-01	exon_skip_335111 exon_skip_335109	236877106	236877267	236877059	236877105	Splice_Site	ACTCTGCATTTTTTTTTTTTTTTTTGCCTTTTCCGGTCCAATGGCAG	-	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CG-4437-01
	Cancer type: STAD
	ESID: exon_skip_335109
	Skipped exon start: 236877106
	Skipped exon end: 236877267
	Mutation start: 236877059
	Mutation end: 236877105
	Mutation type: Splice_Site
	Reference seq: ACTCTGCATTTTTTTTTTTTTTTTTGCCTTTTCCGGTCCAATGGCAG
	Mutation seq: -
	AAchange: .
exon_skip_335109_STAD_TCGA-CG-4437-01.png
exon_skip_335111_STAD_TCGA-CG-4437-01.png
exon_skip_388061_STAD_TCGA-CG-4437-01.png
exon_skip_388063_STAD_TCGA-CG-4437-01.png
exon_skip_388064_STAD_TCGA-CG-4437-01.png
exon_skip_388065_STAD_TCGA-CG-4437-01.png
exon_skip_388066_STAD_TCGA-CG-4437-01.png
exon_skip_76873_STAD_TCGA-CG-4437-01.png
	Sample: TCGA-CG-4437-01
	Cancer type: STAD
	ESID: exon_skip_335109
	Skipped exon start: 236877106
	Skipped exon end: 236877267
	Mutation start: 236877059
	Mutation end: 236877105
	Mutation type: Splice_Site
	Reference seq: ACTCTGCATTTTTTTTTTTTTTTTTGCCTTTTCCGGTCCAATGGCAG
	Mutation seq: -
	AAchange: .
exon_skip_335109_STAD_TCGA-CG-4437-01.png
exon_skip_335111_STAD_TCGA-CG-4437-01.png
exon_skip_388061_STAD_TCGA-CG-4437-01.png
exon_skip_388063_STAD_TCGA-CG-4437-01.png
exon_skip_388064_STAD_TCGA-CG-4437-01.png
exon_skip_388065_STAD_TCGA-CG-4437-01.png
exon_skip_388066_STAD_TCGA-CG-4437-01.png
exon_skip_76873_STAD_TCGA-CG-4437-01.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
HCC1171_LUNG	236817382	236817550	236817514	236817515	Frame_Shift_Del	AA	-	p.K430fs
HNT34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	236617823	236617881	236617859	236617859	Missense_Mutation	G	A	p.R67Q
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	236626201	236626288	236626246	236626246	Missense_Mutation	C	T	p.R90W
639V_URINARY_TRACT	236626201	236626288	236626283	236626283	Missense_Mutation	C	T	p.P102L
DV90_LUNG	236658998	236659132	236659036	236659036	Missense_Mutation	G	A	p.A193T
HT115_LARGE_INTESTINE	236658998	236659132	236659036	236659036	Missense_Mutation	G	A	p.A193T
JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	236658998	236659132	236659082	236659082	Missense_Mutation	A	C	p.Y208S
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	236658998	236659132	236659090	236659090	Missense_Mutation	T	C	p.C211R
IALM_LUNG	236708011	236708166	236708053	236708053	Missense_Mutation	G	T	p.V282F
PK59_PANCREAS	236708011	236708166	236708117	236708117	Missense_Mutation	C	T	p.T303M
SNUC5_LARGE_INTESTINE	236708011	236708166	236708147	236708147	Missense_Mutation	G	A	p.R313H
HEC6_ENDOMETRIUM	236708011	236708166	236708152	236708152	Missense_Mutation	T	C	p.S315P
PANC1005_PANCREAS	236791989	236792093	236792005	236792005	Missense_Mutation	G	A	p.R356Q
JHUEM7_ENDOMETRIUM	236791989	236792093	236792017	236792017	Missense_Mutation	C	T	p.S360L
SNU81_LARGE_INTESTINE	236791989	236792093	236792039	236792039	Missense_Mutation	G	T	p.K367N
FTC133_THYROID	236791989	236792093	236792044	236792044	Missense_Mutation	A	G	p.Y369C
NCIH650_LUNG	236839409	236839567	236839430	236839430	Missense_Mutation	G	T	p.G449V
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	236839409	236839567	236839483	236839483	Missense_Mutation	G	A	p.G467S
BICR18_UPPER_AERODIGESTIVE_TRACT	236839409	236839567	236839533	236839533	Missense_Mutation	G	C	p.E483D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	236839409	236839567	236839533	236839533	Missense_Mutation	G	C	p.E483D
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	236839409	236839567	236839533	236839533	Missense_Mutation	G	C	p.E483D
COGAR359_SOFT_TISSUE	236839409	236839567	236839547	236839547	Missense_Mutation	C	T	p.A488V
CW2_LARGE_INTESTINE	236877106	236877267	236877117	236877117	Missense_Mutation	G	A	p.G499S
NCIH2009_LUNG	236877106	236877267	236877211	236877211	Missense_Mutation	G	A	p.R530Q
SNGM_ENDOMETRIUM	236877106	236877267	236877226	236877226	Missense_Mutation	C	T	p.T535I
TE14_OESOPHAGUS	237028836	237029091	237028840	237028840	Missense_Mutation	G	A	p.E707K
SNU387_LIVER	237028836	237029091	237028847	237028847	Missense_Mutation	A	G	p.E709G
SKMG1_CENTRAL_NERVOUS_SYSTEM	237028836	237029091	237028858	237028858	Missense_Mutation	C	T	p.R713C
KMH2_THYROID	237028836	237029091	237028864	237028864	Missense_Mutation	A	C	p.K715Q
SNU1040_LARGE_INTESTINE	237028836	237029091	237028904	237028904	Missense_Mutation	C	T	p.T728M
SNU46_UPPER_AERODIGESTIVE_TRACT	237028836	237029091	237028945	237028945	Missense_Mutation	G	A	p.D742N
LS180_LARGE_INTESTINE	237028836	237029091	237029056	237029056	Missense_Mutation	A	G	p.K779E
MIAPACA2_PANCREAS	236877106	236877267	236877264	236877264	Nonsense_Mutation	G	T	p.E548*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AGAP1

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_335101	2	236706402:236706530:236708010:236708166:236715882:236715975	236708010:236708166	ENST00000409538.1,ENST00000428334.2,ENST00000336665.5,ENST00000304032.8,ENST00000409457.1	GBM	rs2292708	chr2:236708166	A/G	3.20e-04
exon_skip_335101	2	236706402:236706530:236708010:236708166:236715882:236715975	236708010:236708166	ENST00000409538.1,ENST00000428334.2,ENST00000336665.5,ENST00000304032.8,ENST00000409457.1	BLCA	rs2292708	chr2:236708166	A/G	1.44e-05
exon_skip_335101	2	236706402:236706530:236708010:236708166:236715882:236715975	236708010:236708166	ENST00000409538.1,ENST00000428334.2,ENST00000336665.5,ENST00000304032.8,ENST00000409457.1	BRCA	rs2292708	chr2:236708166	A/G	6.63e-17
exon_skip_335101	2	236706402:236706530:236708010:236708166:236715882:236715975	236708010:236708166	ENST00000409538.1,ENST00000428334.2,ENST00000336665.5,ENST00000304032.8,ENST00000409457.1	LGG	rs2292708	chr2:236708166	A/G	1.13e-05
exon_skip_335101	2	236706402:236706530:236708010:236708166:236715882:236715975	236708010:236708166	ENST00000409538.1,ENST00000428334.2,ENST00000336665.5,ENST00000304032.8,ENST00000409457.1	KIRC	rs2292708	chr2:236708166	A/G	1.31e-04
exon_skip_335101	2	236706402:236706530:236708010:236708166:236715882:236715975	236708010:236708166	ENST00000409538.1,ENST00000428334.2,ENST00000336665.5,ENST00000304032.8,ENST00000409457.1	LUAD	rs2292708	chr2:236708166	A/G	1.00e-05
exon_skip_335101	2	236706402:236706530:236708010:236708166:236715882:236715975	236708010:236708166	ENST00000409538.1,ENST00000428334.2,ENST00000336665.5,ENST00000304032.8,ENST00000409457.1	LUSC	rs2292708	chr2:236708166	A/G	9.84e-05
exon_skip_335101	2	236706402:236706530:236708010:236708166:236715882:236715975	236708010:236708166	ENST00000409538.1,ENST00000428334.2,ENST00000336665.5,ENST00000304032.8,ENST00000409457.1	OV	rs2292708	chr2:236708166	A/G	9.67e-06
exon_skip_335101	2	236706402:236706530:236708010:236708166:236715882:236715975	236708010:236708166	ENST00000409538.1,ENST00000428334.2,ENST00000336665.5,ENST00000304032.8,ENST00000409457.1	TGCT	rs2292708	chr2:236708166	A/G	2.23e-04
exon_skip_335101	2	236706402:236706530:236708010:236708166:236715882:236715975	236708010:236708166	ENST00000409538.1,ENST00000428334.2,ENST00000336665.5,ENST00000304032.8,ENST00000409457.1	THCA	rs2292708	chr2:236708166	A/G	1.25e-04
exon_skip_335101	2	236706402:236706530:236708010:236708166:236715882:236715975	236708010:236708166	ENST00000409538.1,ENST00000428334.2,ENST00000336665.5,ENST00000304032.8,ENST00000409457.1	UCEC	rs2292708	chr2:236708166	A/G	2.26e-05

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AGAP1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AGAP1

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RelatedDrugs for AGAP1

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 AGAP1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
AGAP1	C0004352	Autistic Disorder	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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