ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MAEA

Gene summary

Gene information	Gene symbol	MAEA
	Gene ID	10296
	Gene name	macrophage erythroblast attacher
	Synonyms	EMLP\|EMP\|GID9\|HLC-10\|PIG5
	Cytomap	4p16.3
	Type of gene	protein-coding
	Description	macrophage erythroblast attacherGID complex subunit 9, FYV10 homologcell proliferation-inducing gene 5 proteinerythroblast macrophage proteinhuman lung cancer oncogene 10 proteinlung cancer-related protein 10
	Modification date	20180523
	UniProtAcc	Q7L5Y9
	Context	PubMed: MAEA [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
MAEA	GO:0007155	cell adhesion	9763581
MAEA	GO:0033033	negative regulation of myeloid cell apoptotic process	9763581

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Exon skipping events across known transcript of Ensembl for MAEA 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 MAEA

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 MAEA

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENSG00000090316.11	ENST00000512308.1
exon_skip_421237	4	1305766:1305949:1309184:1309388:1316168:1316202	1309184:1309388	ENSG00000090316.11	ENST00000512842.1,ENST00000510794.1,ENST00000505177.2,ENST00000303400.4,ENST00000503653.1,ENST00000512308.1,ENST00000505839.1
exon_skip_421239	4	1305766:1306026:1309184:1309388:1316168:1316291	1309184:1309388	ENSG00000090316.11	ENST00000513301.1
exon_skip_421241	4	1309202:1309388:1316168:1316291:1321414:1321491	1316168:1316291	ENSG00000090316.11	ENST00000510794.1,ENST00000303400.4,ENST00000512308.1,ENST00000505839.1
exon_skip_421242	4	1309202:1309388:1316168:1316291:1326544:1326642	1316168:1316291	ENSG00000090316.11	ENST00000503653.1
exon_skip_421245	4	1309202:1309388:1321414:1321491:1326544:1326642	1321414:1321491	ENSG00000090316.11	ENST00000264750.6
exon_skip_421246	4	1309184:1309388:1326544:1326653:1330648:1330782	1326544:1326653	ENSG00000090316.11	ENST00000509531.1,ENST00000514708.1
exon_skip_421247	4	1316168:1316291:1317282:1317396:1321414:1321491	1317282:1317396	ENSG00000090316.11	ENST00000505177.2
exon_skip_421248	4	1316168:1316291:1321414:1321491:1326544:1326642	1321414:1321491	ENSG00000090316.11	ENST00000510794.1,ENST00000303400.4,ENST00000452175.2,ENST00000502558.1,ENST00000505839.1
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENSG00000090316.11	ENST00000515766.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MAEA

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENSG00000090316.11	ENST00000512308.1
exon_skip_421237	4	1305766:1305949:1309184:1309388:1316168:1316202	1309184:1309388	ENSG00000090316.11	ENST00000303400.4,ENST00000505177.2,ENST00000512308.1,ENST00000503653.1,ENST00000510794.1,ENST00000512842.1,ENST00000505839.1
exon_skip_421239	4	1305766:1306026:1309184:1309388:1316168:1316291	1309184:1309388	ENSG00000090316.11	ENST00000513301.1
exon_skip_421241	4	1309202:1309388:1316168:1316291:1321414:1321491	1316168:1316291	ENSG00000090316.11	ENST00000303400.4,ENST00000512308.1,ENST00000510794.1,ENST00000505839.1
exon_skip_421242	4	1309202:1309388:1316168:1316291:1326544:1326642	1316168:1316291	ENSG00000090316.11	ENST00000503653.1
exon_skip_421245	4	1309202:1309388:1321414:1321491:1326544:1326642	1321414:1321491	ENSG00000090316.11	ENST00000264750.6
exon_skip_421246	4	1309184:1309388:1326544:1326653:1330648:1330782	1326544:1326653	ENSG00000090316.11	ENST00000514708.1,ENST00000509531.1
exon_skip_421247	4	1316168:1316291:1317282:1317396:1321414:1321491	1317282:1317396	ENSG00000090316.11	ENST00000505177.2
exon_skip_421248	4	1316168:1316291:1321414:1321491:1326544:1326642	1321414:1321491	ENSG00000090316.11	ENST00000303400.4,ENST00000502558.1,ENST00000452175.2,ENST00000510794.1,ENST00000505839.1
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENSG00000090316.11	ENST00000515766.1

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 MAEA

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
ENST00000303400	1321414	1321491	Frame-shift
ENST00000303400	1309184	1309388	In-frame
ENST00000303400	1316168	1316291	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
ENST00000303400	1321414	1321491	Frame-shift
ENST00000303400	1309184	1309388	In-frame
ENST00000303400	1316168	1316291	In-frame

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

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
ENST00000303400	2239	396	1309184	1309388	316	519	84	152
ENST00000303400	2239	396	1316168	1316291	520	642	152	193

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
ENST00000303400	2239	396	1309184	1309388	316	519	84	152
ENST00000303400	2239	396	1316168	1316291	520	642	152	193

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
Q7L5Y9	84	152	152	232	Alternative sequence	ID=VSP_024784;Note=In isoform 4. EDLVNIEMFLTAKEVEESLERRETATCLAWCHDNKSRLRKMKSCLEFSLRIQEFIELIRQNKRLDAVRHARKHFSQAEGSQ->GTCKKALQPSRREPAGRGAPGHGHAGLPARHAHLPVQGPSGPCTVADADPAVPVRQLPTTPAGKQFCVHPHPAGWPLSHQD;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:147
Q7L5Y9	84	152	1	396	Chain	ID=PRO_0000284936;Note=E3 ubiquitin-protein transferase MAEA
Q7L5Y9	84	152	121	153	Domain	Note=LisH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00126
Q7L5Y9	84	152	1	124	Region	Note=Extracellular and involved in cell to cell contact;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9763581;Dbxref=PMID:9763581
Q7L5Y9	84	152	101	101	Sequence conflict	Note=R->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q7L5Y9	84	152	123	123	Sequence conflict	Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q7L5Y9	152	193	152	232	Alternative sequence	ID=VSP_024784;Note=In isoform 4. EDLVNIEMFLTAKEVEESLERRETATCLAWCHDNKSRLRKMKSCLEFSLRIQEFIELIRQNKRLDAVRHARKHFSQAEGSQ->GTCKKALQPSRREPAGRGAPGHGHAGLPARHAHLPVQGPSGPCTVADADPAVPVRQLPTTPAGKQFCVHPHPAGWPLSHQD;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:147
Q7L5Y9	152	193	153	245	Alternative sequence	ID=VSP_024785;Note=In isoform 5. DLVNIEMFLTAKEVEESLERRETATCLAWCHDNKSRLRKMKSCLEFSLRIQEFIELIRQNKRLDAVRHARKHFSQAEGSQLDEVRQAMGMLAF->TCKKALQPSRREPAGRGAPGHGHAGLPARHAHLPVQGPSGPCTVADADPAVPVRQLPTTPAGKQFCVHPHPAGRPLSHQDTTVLQGGRQLQEP;Ontology_term=ECO:0000303;evidenc
Q7L5Y9	152	193	153	193	Alternative sequence	ID=VSP_024786;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:9763581;Dbxref=PMID:14702039,PMID:9763581
Q7L5Y9	152	193	1	396	Chain	ID=PRO_0000284936;Note=E3 ubiquitin-protein transferase MAEA
Q7L5Y9	152	193	121	153	Domain	Note=LisH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00126
Q7L5Y9	152	193	159	216	Domain	Note=CTLH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00058

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
Q7L5Y9	84	152	152	232	Alternative sequence	ID=VSP_024784;Note=In isoform 4. EDLVNIEMFLTAKEVEESLERRETATCLAWCHDNKSRLRKMKSCLEFSLRIQEFIELIRQNKRLDAVRHARKHFSQAEGSQ->GTCKKALQPSRREPAGRGAPGHGHAGLPARHAHLPVQGPSGPCTVADADPAVPVRQLPTTPAGKQFCVHPHPAGWPLSHQD;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:147
Q7L5Y9	84	152	1	396	Chain	ID=PRO_0000284936;Note=E3 ubiquitin-protein transferase MAEA
Q7L5Y9	84	152	121	153	Domain	Note=LisH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00126
Q7L5Y9	84	152	1	124	Region	Note=Extracellular and involved in cell to cell contact;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9763581;Dbxref=PMID:9763581
Q7L5Y9	84	152	101	101	Sequence conflict	Note=R->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q7L5Y9	84	152	123	123	Sequence conflict	Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q7L5Y9	152	193	152	232	Alternative sequence	ID=VSP_024784;Note=In isoform 4. EDLVNIEMFLTAKEVEESLERRETATCLAWCHDNKSRLRKMKSCLEFSLRIQEFIELIRQNKRLDAVRHARKHFSQAEGSQ->GTCKKALQPSRREPAGRGAPGHGHAGLPARHAHLPVQGPSGPCTVADADPAVPVRQLPTTPAGKQFCVHPHPAGWPLSHQD;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:147
Q7L5Y9	152	193	153	245	Alternative sequence	ID=VSP_024785;Note=In isoform 5. DLVNIEMFLTAKEVEESLERRETATCLAWCHDNKSRLRKMKSCLEFSLRIQEFIELIRQNKRLDAVRHARKHFSQAEGSQLDEVRQAMGMLAF->TCKKALQPSRREPAGRGAPGHGHAGLPARHAHLPVQGPSGPCTVADADPAVPVRQLPTTPAGKQFCVHPHPAGRPLSHQDTTVLQGGRQLQEP;Ontology_term=ECO:0000303;evidenc
Q7L5Y9	152	193	153	193	Alternative sequence	ID=VSP_024786;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:9763581;Dbxref=PMID:14702039,PMID:9763581
Q7L5Y9	152	193	1	396	Chain	ID=PRO_0000284936;Note=E3 ubiquitin-protein transferase MAEA
Q7L5Y9	152	193	121	153	Domain	Note=LisH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00126
Q7L5Y9	152	193	159	216	Domain	Note=CTLH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00058

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SNVs in the skipped exons for MAEA

- 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
COAD	TCGA-AZ-6598-01	exon_skip_421237 exon_skip_421239	1309185	1309388	1309225	1309226	Frame_Shift_Del	TG	-	p.98_98del
LIHC	TCGA-DD-A39Y-01	exon_skip_421246	1326545	1326653	1326608	1326608	Frame_Shift_Del	G	-	p.M240fs
LIHC	TCGA-DD-A39Y-01	exon_skip_421246	1326545	1326653	1326643	1326643	Frame_Shift_Del	C	-	p.S252fs
UCEC	TCGA-AX-A0J1-01	exon_skip_421246	1326545	1326653	1326590	1326590	Nonsense_Mutation	C	T	p.R168*

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

Depth of coverage in three exons

Mutation description

- 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
MCC26_SKIN	1309185	1309388	1309273	1309273	Missense_Mutation	C	A	p.P114H
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1309185	1309388	1309281	1309281	Missense_Mutation	G	A	p.A117T
NCIH1915_LUNG	1309185	1309388	1309360	1309360	Missense_Mutation	T	G	p.V143G
SNU213_PANCREAS	1309185	1309388	1309369	1309369	Missense_Mutation	C	T	p.A146V
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1309185	1309388	1309371	1309371	Missense_Mutation	C	T	p.R147C
HEC59_ENDOMETRIUM	1316169	1316291	1316262	1316262	Missense_Mutation	G	A	p.D184N
CHLA06ATRT_SOFT_TISSUE	1316169	1316291	1316280	1316280	Missense_Mutation	C	T	p.R190W
PK45H_PANCREAS	1316169	1316291	1316284	1316284	Missense_Mutation	A	T	p.K191M
MCC13_SKIN	1326545	1326653	1326643	1326643	Missense_Mutation	C	T	p.S252F
OC316_OVARY	1330649	1332405	1330667	1330667	Missense_Mutation	C	G	p.R262G
OC314_OVARY	1330649	1332405	1330667	1330667	Missense_Mutation	C	G	p.R262G
CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1330649	1332405	1330707	1330707	Missense_Mutation	A	G	p.Y275C
MRKNU1_BREAST	1330649	1332405	1332226	1332226	Missense_Mutation	G	T	p.D306Y
HEC6_ENDOMETRIUM	1330649	1332405	1332229	1332229	Missense_Mutation	G	A	p.G307S
HT3_CERVIX	1330649	1332405	1332247	1332247	Missense_Mutation	G	A	p.D313N
SNUC4_LARGE_INTESTINE	1330649	1332405	1332385	1332385	Missense_Mutation	G	A	p.G359S
TC32_BONE	1316169	1316291	1316169	1316169	Splice_Site	G	T	p.D153Y
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1330649	1332405	1330649	1330649	Splice_Site	G	T	p.D256Y
IPC298_SKIN	1330649	1332405	1330781	1330781	Splice_Site	C	T	p.P300S

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

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_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	CESC	rs2293635	chr4:1291791	A/G	4.01e-04
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	CESC	rs2293635	chr4:1291791	A/G	4.35e-04
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	HNSC	rs2293635	chr4:1291791	A/G	3.26e-04
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	HNSC	rs2293635	chr4:1291791	A/G	3.27e-04
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	KIRP	rs2293635	chr4:1291791	A/G	3.99e-06
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	KIRP	rs2293635	chr4:1291791	A/G	3.99e-06
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	KIRP	rs2293635	chr4:1291791	A/G	1.21e-03
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	KIRP	rs2293635	chr4:1291791	A/G	1.59e-03
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	LGG	rs2293635	chr4:1291791	A/G	2.30e-06
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	LGG	rs2293635	chr4:1291791	A/G	2.30e-06
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	LGG	rs2293635	chr4:1291791	A/G	6.94e-05
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	LGG	rs2293635	chr4:1291791	A/G	8.55e-05
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	LGG	rs2293635	chr4:1291791	A/G	5.29e-04
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	KIRC	rs2293635	chr4:1291791	A/G	1.32e-11
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	KIRC	rs2293635	chr4:1291791	A/G	1.33e-11
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	KIRC	rs2293635	chr4:1291791	A/G	4.69e-04
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	LUAD	rs2293635	chr4:1291791	A/G	3.66e-05
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	LUAD	rs2293635	chr4:1291791	A/G	3.66e-05
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	LIHC	rs2293635	chr4:1291791	A/G	4.49e-05
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	LIHC	rs2293635	chr4:1291791	A/G	4.49e-05
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	LIHC	rs2293635	chr4:1291791	A/G	1.03e-03
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	LUSC	rs2293635	chr4:1291791	A/G	7.60e-04
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	LUSC	rs2293635	chr4:1291791	A/G	8.90e-04
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	LUSC	rs2293635	chr4:1291791	A/G	8.94e-04
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	PCPG	rs2293635	chr4:1291791	A/G	9.91e-05
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	PCPG	rs2293635	chr4:1291791	A/G	9.95e-05
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	PAAD	rs2293635	chr4:1291791	A/G	8.47e-05
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	PAAD	rs2293635	chr4:1291791	A/G	8.47e-05
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	PRAD	rs2293635	chr4:1291791	A/G	4.88e-09
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	PRAD	rs2293635	chr4:1291791	A/G	4.90e-09
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	PRAD	rs2293635	chr4:1291791	A/G	8.86e-05
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	THCA	rs2293635	chr4:1291791	A/G	1.95e-09
exon_skip_421234	4	1283701:1283770:1291743:1291903:1305766:1305949	1291743:1291903	ENST00000512308.1	THCA	rs2293635	chr4:1291791	A/G	1.96e-09
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	CESC	rs13135102	chr4:1330983	A/C	3.73e-06
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	CESC	rs13135102	chr4:1330983	A/C	5.70e-06
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	CESC	rs28418481	chr4:1330975	C/G	1.79e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	CESC	rs28418481	chr4:1330975	C/G	2.43e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	CESC	rs28493051	chr4:1331030	A/C	3.31e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	CESC	rs28493051	chr4:1331030	A/C	4.15e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	CESC	rs28477912	chr4:1331350	C/T	4.36e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	CESC	rs28477912	chr4:1331350	C/T	4.99e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	BLCA	rs28493051	chr4:1331030	A/C	6.78e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	BLCA	rs28493051	chr4:1331030	A/C	6.78e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	BLCA	rs28418481	chr4:1330975	C/G	1.01e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	BLCA	rs28418481	chr4:1330975	C/G	1.01e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	BLCA	rs28477912	chr4:1331350	C/T	1.48e-03
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	BLCA	rs28477912	chr4:1331350	C/T	1.48e-03
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	HNSC	rs13135102	chr4:1330983	A/C	1.37e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	HNSC	rs13135102	chr4:1330983	A/C	1.38e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	HNSC	rs28418481	chr4:1330975	C/G	2.76e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	HNSC	rs28418481	chr4:1330975	C/G	2.78e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	HNSC	rs28493051	chr4:1331030	A/C	3.04e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	HNSC	rs28493051	chr4:1331030	A/C	3.06e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	BRCA	rs13135102	chr4:1330983	A/C	4.14e-10
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	BRCA	rs13135102	chr4:1330983	A/C	4.15e-10
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRP	rs28493051	chr4:1331030	A/C	3.84e-06
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRP	rs28493051	chr4:1331030	A/C	3.84e-06
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRP	rs28418481	chr4:1330975	C/G	5.81e-06
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRP	rs28418481	chr4:1330975	C/G	5.81e-06
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRP	rs13135102	chr4:1330983	A/C	1.36e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRP	rs13135102	chr4:1330983	A/C	1.36e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRP	rs28477912	chr4:1331350	C/T	1.27e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRP	rs28477912	chr4:1331350	C/T	1.27e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LGG	rs13135102	chr4:1330983	A/C	4.49e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LGG	rs13135102	chr4:1330983	A/C	4.49e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LGG	rs28418481	chr4:1330975	C/G	5.56e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LGG	rs28493051	chr4:1331030	A/C	5.56e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LGG	rs28418481	chr4:1330975	C/G	5.56e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LGG	rs28493051	chr4:1331030	A/C	5.56e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LGG	rs13135102	chr4:1330983	A/C	8.71e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LGG	rs13147602	chr4:1332175	A/G	4.34e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LGG	rs13135102	chr4:1330983	A/C	4.96e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LGG	rs1128427	chr4:1330759	T/C	7.71e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LGG	rs13135102	chr4:1330983	A/C	1.84e-03
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LGG	rs13135102	chr4:1330983	A/C	2.46e-03
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LGG	rs28418481	chr4:1330975	C/G	2.56e-03
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LGG	rs28493051	chr4:1331030	A/C	2.56e-03
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRC	rs13135102	chr4:1330983	A/C	7.53e-10
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRC	rs13135102	chr4:1330983	A/C	7.55e-10
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRC	rs28493051	chr4:1331030	A/C	1.70e-09
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRC	rs28493051	chr4:1331030	A/C	1.70e-09
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRC	rs28418481	chr4:1330975	C/G	2.15e-09
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRC	rs28418481	chr4:1330975	C/G	2.15e-09
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRC	rs28477912	chr4:1331350	C/T	1.24e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRC	rs28477912	chr4:1331350	C/T	1.24e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRC	rs13135102	chr4:1330983	A/C	1.10e-03
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	KIRC	rs13147602	chr4:1332175	A/G	1.62e-03
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LUAD	rs28418481	chr4:1330975	C/G	1.96e-07
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LUAD	rs28493051	chr4:1331030	A/C	1.96e-07
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LUAD	rs28418481	chr4:1330975	C/G	1.97e-07
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LUAD	rs28493051	chr4:1331030	A/C	1.97e-07
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LUAD	rs13135102	chr4:1330983	A/C	5.00e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LUAD	rs13135102	chr4:1330983	A/C	5.00e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LUAD	rs28477912	chr4:1331350	C/T	1.28e-03
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LUAD	rs28477912	chr4:1331350	C/T	1.29e-03
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LIHC	rs13135102	chr4:1330983	A/C	7.29e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LIHC	rs13135102	chr4:1330983	A/C	7.30e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LIHC	rs28493051	chr4:1331030	A/C	3.98e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LIHC	rs28493051	chr4:1331030	A/C	3.99e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LIHC	rs28418481	chr4:1330975	C/G	4.34e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LIHC	rs28418481	chr4:1330975	C/G	4.36e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LIHC	rs13135102	chr4:1330983	A/C	1.17e-03
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LUSC	rs28418481	chr4:1330975	C/G	8.60e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LUSC	rs28418481	chr4:1330975	C/G	8.61e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LUSC	rs28493051	chr4:1331030	A/C	1.05e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LUSC	rs28493051	chr4:1331030	A/C	1.05e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LUSC	rs13135102	chr4:1330983	A/C	1.01e-03
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LUSC	rs13135102	chr4:1330983	A/C	1.01e-03
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	LUSC	rs28477912	chr4:1331350	C/T	1.67e-03
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	OV	rs28493051	chr4:1331030	A/C	9.79e-06
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	OV	rs28493051	chr4:1331030	A/C	9.79e-06
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	OV	rs28418481	chr4:1330975	C/G	1.21e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	OV	rs28418481	chr4:1330975	C/G	1.21e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	OV	rs13147602	chr4:1332175	A/G	1.41e-03
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	PRAD	rs28493051	chr4:1331030	A/C	9.71e-16
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	PRAD	rs28493051	chr4:1331030	A/C	9.72e-16
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	PRAD	rs28418481	chr4:1330975	C/G	1.39e-15
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	PRAD	rs28418481	chr4:1330975	C/G	1.39e-15
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	PRAD	rs13135102	chr4:1330983	A/C	6.62e-07
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	PRAD	rs13135102	chr4:1330983	A/C	6.63e-07
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	PRAD	rs28477912	chr4:1331350	C/T	9.47e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	PRAD	rs28477912	chr4:1331350	C/T	9.47e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	PRAD	rs13135102	chr4:1330983	A/C	1.45e-03
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	THYM	rs28418481	chr4:1330975	C/G	9.64e-07
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	THYM	rs28493051	chr4:1331030	A/C	9.64e-07
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	THYM	rs28418481	chr4:1330975	C/G	9.97e-07
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	THYM	rs28493051	chr4:1331030	A/C	9.97e-07
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	STAD	rs13135102	chr4:1330983	A/C	5.80e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	STAD	rs13135102	chr4:1330983	A/C	5.80e-04
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	STAD	rs13135102	chr4:1330983	A/C	1.70e-03
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	THCA	rs28493051	chr4:1331030	A/C	7.52e-24
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	THCA	rs28493051	chr4:1331030	A/C	7.56e-24
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	THCA	rs28418481	chr4:1330975	C/G	1.60e-23
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	THCA	rs28418481	chr4:1330975	C/G	1.61e-23
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	THCA	rs28477912	chr4:1331350	C/T	5.77e-11
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	THCA	rs28477912	chr4:1331350	C/T	5.79e-11
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	THCA	rs13147602	chr4:1332175	A/G	1.46e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	THCA	rs13147602	chr4:1332175	A/G	1.47e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	THCA	rs13135102	chr4:1330983	A/C	1.60e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	THCA	rs13135102	chr4:1330983	A/C	1.60e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	THCA	rs1128427	chr4:1330759	T/C	6.76e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	THCA	rs1128427	chr4:1330759	T/C	6.80e-05
exon_skip_421255	4	1326544:1326653:1330648:1332405:1332861:1332965	1330648:1332405	ENST00000515766.1	THCA	rs1128427	chr4:1330759	T/C	3.58e-03

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

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

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RelatedDrugs for MAEA

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 MAEA

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MAEA	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	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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