ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for EFEMP2

Gene summary

Gene information	Gene symbol	EFEMP2
	Gene ID	30008
	Gene name	EGF containing fibulin extracellular matrix protein 2
	Synonyms	ARCL1B\|FBLN4\|MBP1\|UPH1
	Cytomap	11q13.1
	Type of gene	protein-coding
	Description	EGF-containing fibulin-like extracellular matrix protein 2EGF containing fibulin like extracellular matrix protein 2FIBL-4fibulin 4mutant p53 binding protein 1
	Modification date	20180522
	UniProtAcc	O95967
	Context	PubMed: EFEMP2 [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 EFEMP2 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 EFEMP2

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 EFEMP2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_74401	11	65634035:65634183:65634280:65634550:65635331:65635377	65634280:65634550	ENSG00000172638.8	ENST00000526628.1
exon_skip_74403	11	65634035:65634183:65634315:65634405:65635331:65635377	65634315:65634405	ENSG00000172638.8	ENST00000531645.1
exon_skip_74404	11	65634035:65634183:65634315:65634550:65635331:65635377	65634315:65634550	ENSG00000172638.8	ENST00000531972.1
exon_skip_74405	11	65634035:65634183:65634336:65634550:65635331:65635377	65634336:65634550	ENSG00000172638.8	ENST00000524408.1
exon_skip_74408	11	65634035:65634183:65634491:65634550:65635331:65635377	65634491:65634550	ENSG00000172638.8	ENST00000526911.1
exon_skip_74411	11	65635360:65635527:65635765:65635892:65635980:65636007	65635765:65635892	ENSG00000172638.8	ENST00000532084.1,ENST00000526628.1,ENST00000531005.1,ENST00000531972.1,ENST00000307998.6,ENST00000528176.1
exon_skip_74419	11	65637327:65637447:65637591:65637708:65638006:65638129	65637591:65637708	ENSG00000172638.8	ENST00000531005.1,ENST00000531972.1,ENST00000307998.6,ENST00000528176.1,ENST00000533347.1
exon_skip_74421	11	65637327:65637447:65637591:65638129:65638627:65638673	65637591:65638129	ENSG00000172638.8	ENST00000527969.1
exon_skip_74425	11	65637686:65637708:65638006:65638129:65638627:65638673	65638006:65638129	ENSG00000172638.8	ENST00000531972.1,ENST00000530850.1,ENST00000307998.6,ENST00000527378.1,ENST00000528176.1,ENST00000526624.1,ENST00000533347.1
exon_skip_74433	11	65638006:65638129:65638627:65638834:65639440:65639489	65638627:65638834	ENSG00000172638.8	ENST00000531972.1,ENST00000307998.6,ENST00000527378.1,ENST00000528176.1,ENST00000526624.1
exon_skip_74435	11	65638006:65638129:65638627:65638880:65639440:65639489	65638627:65638880	ENSG00000172638.8	ENST00000533347.1
exon_skip_74454	11	65638627:65638834:65639440:65639489:65639714:65639832	65639440:65639489	ENSG00000172638.8	ENST00000531972.1,ENST00000307998.6,ENST00000527378.1,ENST00000528176.1,ENST00000526624.1
exon_skip_74461	11	65638627:65638880:65639440:65639489:65639714:65639832	65639440:65639489	ENSG00000172638.8	ENST00000533347.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for EFEMP2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_74401	11	65634035:65634183:65634280:65634550:65635331:65635377	65634280:65634550	ENSG00000172638.8	ENST00000526628.1
exon_skip_74403	11	65634035:65634183:65634315:65634405:65635331:65635377	65634315:65634405	ENSG00000172638.8	ENST00000531645.1
exon_skip_74404	11	65634035:65634183:65634315:65634550:65635331:65635377	65634315:65634550	ENSG00000172638.8	ENST00000531972.1
exon_skip_74405	11	65634035:65634183:65634336:65634550:65635331:65635377	65634336:65634550	ENSG00000172638.8	ENST00000524408.1
exon_skip_74408	11	65634035:65634183:65634491:65634550:65635331:65635377	65634491:65634550	ENSG00000172638.8	ENST00000526911.1
exon_skip_74411	11	65635360:65635527:65635765:65635892:65635980:65636007	65635765:65635892	ENSG00000172638.8	ENST00000531972.1,ENST00000526628.1,ENST00000528176.1,ENST00000307998.6,ENST00000532084.1,ENST00000531005.1
exon_skip_74419	11	65637327:65637447:65637591:65637708:65638006:65638129	65637591:65637708	ENSG00000172638.8	ENST00000531972.1,ENST00000528176.1,ENST00000307998.6,ENST00000531005.1,ENST00000533347.1
exon_skip_74421	11	65637327:65637447:65637591:65638129:65638627:65638673	65637591:65638129	ENSG00000172638.8	ENST00000527969.1
exon_skip_74425	11	65637686:65637708:65638006:65638129:65638627:65638673	65638006:65638129	ENSG00000172638.8	ENST00000531972.1,ENST00000528176.1,ENST00000307998.6,ENST00000533347.1,ENST00000526624.1,ENST00000527378.1,ENST00000530850.1
exon_skip_74433	11	65638006:65638129:65638627:65638834:65639440:65639489	65638627:65638834	ENSG00000172638.8	ENST00000531972.1,ENST00000528176.1,ENST00000307998.6,ENST00000526624.1,ENST00000527378.1
exon_skip_74435	11	65638006:65638129:65638627:65638880:65639440:65639489	65638627:65638880	ENSG00000172638.8	ENST00000533347.1
exon_skip_74454	11	65638627:65638834:65639440:65639489:65639714:65639832	65639440:65639489	ENSG00000172638.8	ENST00000531972.1,ENST00000528176.1,ENST00000307998.6,ENST00000526624.1,ENST00000527378.1
exon_skip_74461	11	65638627:65638880:65639440:65639489:65639714:65639832	65639440:65639489	ENSG00000172638.8	ENST00000533347.1

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 EFEMP2

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
ENST00000307998	65635765	65635892	Frame-shift
ENST00000307998	65639440	65639489	Frame-shift
ENST00000307998	65637591	65637708	In-frame
ENST00000307998	65638006	65638129	In-frame
ENST00000307998	65638627	65638834	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
ENST00000307998	65635765	65635892	Frame-shift
ENST00000307998	65639440	65639489	Frame-shift
ENST00000307998	65637591	65637708	In-frame
ENST00000307998	65638006	65638129	In-frame
ENST00000307998	65638627	65638834	In-frame

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Infer the effects of exon skipping event on protein functional features for EFEMP2

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
ENST00000307998	2051	443	65638627	65638834	392	598	53	122
ENST00000307998	2051	443	65638006	65638129	599	721	122	163
ENST00000307998	2051	443	65637591	65637708	722	838	163	202

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
ENST00000307998	2051	443	65638627	65638834	392	598	53	122
ENST00000307998	2051	443	65638006	65638129	599	721	122	163
ENST00000307998	2051	443	65637591	65637708	722	838	163	202

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
O95967	53	122	68	73	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2KL7
O95967	53	122	78	82	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2KL7
O95967	53	122	113	116	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2KL7
O95967	53	122	26	443	Chain	ID=PRO_0000007575;Note=EGF-containing fibulin-like extracellular matrix protein 2
O95967	53	122	58	121	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076,ECO:0000269\|Ref.11
O95967	53	122	65	80	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076,ECO:0000269\|Ref.11
O95967	53	122	71	109	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076,ECO:0000269\|Ref.11
O95967	53	122	36	81	Domain	Note=EGF-like 1%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	53	122	57	57	Natural variant	ID=VAR_027019;Note=In ARCL1B. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16685658;Dbxref=dbSNP:rs119489101,PMID:16685658
O95967	53	122	96	96	Sequence conflict	Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
O95967	53	122	103	111	Sequence conflict	Note=AQHPNPCPP->VNTQPLPT;Ontology_term=ECO:0000305;evidence=ECO:0000305
O95967	122	163	26	443	Chain	ID=PRO_0000007575;Note=EGF-containing fibulin-like extracellular matrix protein 2
O95967	122	163	127	140	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	122	163	134	149	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	122	163	151	162	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	122	163	123	163	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	163	202	26	443	Chain	ID=PRO_0000007575;Note=EGF-containing fibulin-like extracellular matrix protein 2
O95967	163	202	168	177	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	163	202	173	186	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	163	202	188	201	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	163	202	123	163	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	163	202	164	202	Domain	Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	163	202	198	198	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
O95967	53	122	68	73	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2KL7
O95967	53	122	78	82	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2KL7
O95967	53	122	113	116	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2KL7
O95967	53	122	26	443	Chain	ID=PRO_0000007575;Note=EGF-containing fibulin-like extracellular matrix protein 2
O95967	53	122	58	121	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076,ECO:0000269\|Ref.11
O95967	53	122	65	80	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076,ECO:0000269\|Ref.11
O95967	53	122	71	109	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076,ECO:0000269\|Ref.11
O95967	53	122	36	81	Domain	Note=EGF-like 1%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	53	122	57	57	Natural variant	ID=VAR_027019;Note=In ARCL1B. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16685658;Dbxref=dbSNP:rs119489101,PMID:16685658
O95967	53	122	96	96	Sequence conflict	Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
O95967	53	122	103	111	Sequence conflict	Note=AQHPNPCPP->VNTQPLPT;Ontology_term=ECO:0000305;evidence=ECO:0000305
O95967	122	163	26	443	Chain	ID=PRO_0000007575;Note=EGF-containing fibulin-like extracellular matrix protein 2
O95967	122	163	127	140	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	122	163	134	149	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	122	163	151	162	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	122	163	123	163	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	163	202	26	443	Chain	ID=PRO_0000007575;Note=EGF-containing fibulin-like extracellular matrix protein 2
O95967	163	202	168	177	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	163	202	173	186	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	163	202	188	201	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	163	202	123	163	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	163	202	164	202	Domain	Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
O95967	163	202	198	198	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for EFEMP2

- 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-G3-A3CJ-01	exon_skip_74401	65634281	65634550	65634464	65634464	Frame_Shift_Del	G	-	p.T419fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_74405 exon_skip_74404	65634316	65634550	65634464	65634464	Frame_Shift_Del	G	-	p.T419fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_74405 exon_skip_74404	65634337	65634550	65634464	65634464	Frame_Shift_Del	G	-	p.T419fs
LIHC	TCGA-DD-A1EG-01	exon_skip_74401	65634281	65634550	65634496	65634496	Frame_Shift_Del	G	-	p.R409fs
LIHC	TCGA-DD-A1EG-01	exon_skip_74405 exon_skip_74404	65634316	65634550	65634496	65634496	Frame_Shift_Del	G	-	p.R409fs
LIHC	TCGA-DD-A1EG-01	exon_skip_74405 exon_skip_74404	65634337	65634550	65634496	65634496	Frame_Shift_Del	G	-	p.R409fs
LIHC	TCGA-DD-A1EG-01	exon_skip_74408	65634492	65634550	65634496	65634496	Frame_Shift_Del	G	-	p.R409fs
STAD	TCGA-CD-A4MJ-01	exon_skip_74401	65634281	65634550	65634501	65634501	Frame_Shift_Del	C	-	p.G407fs
STAD	TCGA-CD-A4MJ-01	exon_skip_74405 exon_skip_74404	65634316	65634550	65634501	65634501	Frame_Shift_Del	C	-	p.G407fs
STAD	TCGA-CD-A4MJ-01	exon_skip_74405 exon_skip_74404	65634337	65634550	65634501	65634501	Frame_Shift_Del	C	-	p.G407fs
STAD	TCGA-CD-A4MJ-01	exon_skip_74408	65634492	65634550	65634501	65634501	Frame_Shift_Del	C	-	p.G407fs
LIHC	TCGA-DD-A3A0-01	exon_skip_74411	65635766	65635892	65635823	65635823	Frame_Shift_Del	C	-	p.G306fs
LIHC	TCGA-DD-A39Y-01	exon_skip_74411	65635766	65635892	65635845	65635845	Frame_Shift_Del	T	-	p.T299fs
LIHC	TCGA-DD-A39Y-01	exon_skip_74421	65637592	65638129	65638042	65638042	Frame_Shift_Del	G	-	p.P152fs
LIHC	TCGA-DD-A39Y-01	exon_skip_74425	65638007	65638129	65638042	65638042	Frame_Shift_Del	G	-	p.P152fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_74433	65638628	65638834	65638705	65638705	Frame_Shift_Del	G	-	p.P99fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_74435	65638628	65638880	65638705	65638705	Frame_Shift_Del	G	-	p.P99fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_74433	65638628	65638834	65638765	65638765	Frame_Shift_Del	C	-	p.G77fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_74435	65638628	65638880	65638765	65638765	Frame_Shift_Del	C	-	p.G77fs
HNSC	TCGA-BB-4223-01	exon_skip_74433	65638628	65638834	65638808	65638808	Nonsense_Mutation	C	A	p.E63*
HNSC	TCGA-BB-4223-01	exon_skip_74435	65638628	65638880	65638808	65638808	Nonsense_Mutation	C	A	p.E63*

- 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
SAT_UPPER_AERODIGESTIVE_TRACT	65634337	65634550	65634441	65634441	Missense_Mutation	C	T	p.R427Q
SAT_UPPER_AERODIGESTIVE_TRACT	65634316	65634550	65634441	65634441	Missense_Mutation	C	T	p.R427Q
SAT_UPPER_AERODIGESTIVE_TRACT	65634281	65634550	65634441	65634441	Missense_Mutation	C	T	p.R427Q
2313287_STOMACH	65634492	65634550	65634490	65634490	Missense_Mutation	A	G	p.Y411H
2313287_STOMACH	65634337	65634550	65634490	65634490	Missense_Mutation	A	G	p.Y411H
2313287_STOMACH	65634316	65634550	65634490	65634490	Missense_Mutation	A	G	p.Y411H
2313287_STOMACH	65634281	65634550	65634490	65634490	Missense_Mutation	A	G	p.Y411H
FTC238_THYROID	65634492	65634550	65634504	65634504	Missense_Mutation	G	A	p.T406M
FTC238_THYROID	65634337	65634550	65634504	65634504	Missense_Mutation	G	A	p.T406M
FTC238_THYROID	65634316	65634550	65634504	65634504	Missense_Mutation	G	A	p.T406M
FTC238_THYROID	65634281	65634550	65634504	65634504	Missense_Mutation	G	A	p.T406M
HCT15_LARGE_INTESTINE	65634492	65634550	65634510	65634510	Missense_Mutation	G	A	p.P404L
HCT15_LARGE_INTESTINE	65634337	65634550	65634510	65634510	Missense_Mutation	G	A	p.P404L
HCT15_LARGE_INTESTINE	65634316	65634550	65634510	65634510	Missense_Mutation	G	A	p.P404L
HCT15_LARGE_INTESTINE	65634281	65634550	65634510	65634510	Missense_Mutation	G	A	p.P404L
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65634492	65634550	65634517	65634517	Missense_Mutation	C	G	p.A402P
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65634337	65634550	65634517	65634517	Missense_Mutation	C	G	p.A402P
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65634316	65634550	65634517	65634517	Missense_Mutation	C	G	p.A402P
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65634281	65634550	65634517	65634517	Missense_Mutation	C	G	p.A402P
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65634492	65634550	65634517	65634517	Missense_Mutation	C	T	p.A402T
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65634337	65634550	65634517	65634517	Missense_Mutation	C	T	p.A402T
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65634316	65634550	65634517	65634517	Missense_Mutation	C	T	p.A402T
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65634281	65634550	65634517	65634517	Missense_Mutation	C	T	p.A402T
SNU1041_UPPER_AERODIGESTIVE_TRACT	65635766	65635892	65635776	65635776	Missense_Mutation	C	T	p.V322I
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65635766	65635892	65635787	65635787	Missense_Mutation	G	T	p.P318H
KM12_LARGE_INTESTINE	65635766	65635892	65635799	65635799	Missense_Mutation	C	T	p.R314H
SNU81_LARGE_INTESTINE	65635766	65635892	65635836	65635836	Missense_Mutation	T	G	p.N302H
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65635766	65635892	65635850	65635850	Missense_Mutation	G	A	p.A297V
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65635766	65635892	65635868	65635868	Missense_Mutation	G	A	p.A291V
JHUEM1_ENDOMETRIUM	65637592	65638129	65637654	65637654	Missense_Mutation	C	A	p.G182V
JHUEM1_ENDOMETRIUM	65637592	65637708	65637654	65637654	Missense_Mutation	C	A	p.G182V
RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65637592	65638129	65637673	65637673	Missense_Mutation	G	A	p.R176C
RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65637592	65637708	65637673	65637673	Missense_Mutation	G	A	p.R176C
NCIH1781_LUNG	65637592	65638129	65638093	65638093	Missense_Mutation	C	T	p.R135H
NCIH1781_LUNG	65638007	65638129	65638093	65638093	Missense_Mutation	C	T	p.R135H
639V_URINARY_TRACT	65637592	65638129	65638094	65638094	Missense_Mutation	G	A	p.R135C
639V_URINARY_TRACT	65638007	65638129	65638094	65638094	Missense_Mutation	G	A	p.R135C
HCC2450_LUNG	65637592	65638129	65638121	65638121	Missense_Mutation	C	T	p.E126K
HCC2450_LUNG	65638007	65638129	65638121	65638121	Missense_Mutation	C	T	p.E126K
BEN_LUNG	65637592	65638129	65638124	65638124	Missense_Mutation	C	A	p.D125Y
BEN_LUNG	65638007	65638129	65638124	65638124	Missense_Mutation	C	A	p.D125Y
SNU407_LARGE_INTESTINE	65638628	65638880	65638667	65638667	Missense_Mutation	G	C	p.P110A
SNU407_LARGE_INTESTINE	65638628	65638834	65638667	65638667	Missense_Mutation	G	C	p.P110A
CL34_LARGE_INTESTINE	65638628	65638880	65638687	65638687	Missense_Mutation	G	A	p.A103V
CL34_LARGE_INTESTINE	65638628	65638834	65638687	65638687	Missense_Mutation	G	A	p.A103V
LNCAPCLONEFGC_PROSTATE	65638628	65638880	65638688	65638688	Missense_Mutation	C	T	p.A103T
LNCAPCLONEFGC_PROSTATE	65638628	65638834	65638688	65638688	Missense_Mutation	C	T	p.A103T
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65638628	65638880	65638703	65638703	Missense_Mutation	G	A	p.P98S
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	65638628	65638834	65638703	65638703	Missense_Mutation	G	A	p.P98S
CAOV4_OVARY	65638628	65638880	65638828	65638828	Missense_Mutation	T	C	p.N56S
CAOV4_OVARY	65638628	65638834	65638828	65638828	Missense_Mutation	T	C	p.N56S
BICR18_UPPER_AERODIGESTIVE_TRACT	65639441	65639489	65639462	65639462	Missense_Mutation	G	C	p.P47A

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EFEMP2

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_74435	11	65638006:65638129:65638627:65638880:65639440:65639489	65638627:65638880	ENST00000533347.1	BRCA	rs633800	chr11:65638719	G/A	1.16e-03
exon_skip_74435	11	65638006:65638129:65638627:65638880:65639440:65639489	65638627:65638880	ENST00000533347.1	LGG	rs633800	chr11:65638719	G/A	4.05e-04
exon_skip_74435	11	65638006:65638129:65638627:65638880:65639440:65639489	65638627:65638880	ENST00000533347.1	KIRC	rs633800	chr11:65638719	G/A	8.25e-06
exon_skip_74435	11	65638006:65638129:65638627:65638880:65639440:65639489	65638627:65638880	ENST00000533347.1	PCPG	rs633800	chr11:65638719	G/A	8.17e-04
exon_skip_74433	11	65638006:65638129:65638627:65638834:65639440:65639489	65638627:65638834	ENST00000531972.1,ENST00000307998.6,ENST00000527378.1,ENST00000528176.1,ENST00000526624.1	BRCA	rs633800	chr11:65638719	G/A	1.16e-03
exon_skip_74433	11	65638006:65638129:65638627:65638834:65639440:65639489	65638627:65638834	ENST00000531972.1,ENST00000307998.6,ENST00000527378.1,ENST00000528176.1,ENST00000526624.1	LGG	rs633800	chr11:65638719	G/A	4.05e-04
exon_skip_74433	11	65638006:65638129:65638627:65638834:65639440:65639489	65638627:65638834	ENST00000531972.1,ENST00000307998.6,ENST00000527378.1,ENST00000528176.1,ENST00000526624.1	KIRC	rs633800	chr11:65638719	G/A	8.25e-06
exon_skip_74433	11	65638006:65638129:65638627:65638834:65639440:65639489	65638627:65638834	ENST00000531972.1,ENST00000307998.6,ENST00000527378.1,ENST00000528176.1,ENST00000526624.1	PCPG	rs633800	chr11:65638719	G/A	8.17e-04
exon_skip_74421	11	65637327:65637447:65637591:65638129:65638627:65638673	65637591:65638129	ENST00000527969.1	BRCA	rs630394	chr11:65637984	C/G	6.49e-04
exon_skip_74421	11	65637327:65637447:65637591:65638129:65638627:65638673	65637591:65638129	ENST00000527969.1	LGG	rs630394	chr11:65637984	C/G	3.85e-03
exon_skip_74421	11	65637327:65637447:65637591:65638129:65638627:65638673	65637591:65638129	ENST00000527969.1	KIRC	rs630394	chr11:65637984	C/G	5.13e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EFEMP2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EFEMP2

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RelatedDrugs for EFEMP2

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 EFEMP2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
EFEMP2	C3280798	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB	3	UNIPROT
EFEMP2	C0033578	Prostatic Neoplasms	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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