ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for EFEMP1

Gene summary

Gene information	Gene symbol	EFEMP1
	Gene ID	2202
	Gene name	EGF containing fibulin extracellular matrix protein 1
	Synonyms	DHRD\|DRAD\|FBLN3\|FBNL\|FIBL-3\|MLVT\|MTLV\|S1-5
	Cytomap	2p16.1
	Type of gene	protein-coding
	Description	EGF-containing fibulin-like extracellular matrix protein 1EGF containing fibulin like extracellular matrix protein 1extracellular protein S1-5fibulin-3
	Modification date	20200322
	UniProtAcc	A0A0S2Z3V1, A0A0S2Z4F1, A0A0U1RQV3, A0A0U1RRL0, C9J4H7, C9J4J8, C9J8S9, C9JPZ9, C9JQX7, C9JUM4, Q12805, Q53TA7, Q580Q6,
	Context

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
EFEMP1	GO:0006355	regulation of transcription, DNA-templated	20005202
EFEMP1	GO:0007173	epidermal growth factor receptor signaling pathway	19804359
EFEMP1	GO:0018108	peptidyl-tyrosine phosphorylation	19804359
EFEMP1	GO:0032331	negative regulation of chondrocyte differentiation	20005202

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Gene structures and expression levels for EFEMP1

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000115380

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
TC	UP	ENST00000429909.5	EFEMP1-205:protein_coding:EFEMP1	3.221185e+00	1.022833e+00	2.290303e-03	1.860205e-02
TC	UP	ENST00000452337.5	EFEMP1-210:protein_coding:EFEMP1	5.865481e+00	8.388964e-01	5.992420e-03	3.831784e-02

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for EFEMP1

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_106054	chr2	55874946:55875065:55876623:55876742:55877746:55877865	55876623:55876742
exon_skip_15304	chr2	55922736:55922747:55922899:55922939:55923711:55923776	55922899:55922939
exon_skip_168030	chr2	55922360:55922447:55922571:55922691:55922899:55922916	55922571:55922691
exon_skip_179404	chr2	55922360:55922447:55922571:55922747:55922899:55922939	55922571:55922747
exon_skip_184231	chr2	55922360:55922447:55922610:55922691:55922899:55922939	55922610:55922691
exon_skip_184985	chr2	55876623:55876742:55877746:55877865:55881612:55881734	55877746:55877865
exon_skip_212042	chr2	55922610:55922747:55922899:55922939:55923711:55923776	55922899:55922939
exon_skip_222673	chr2	55922360:55922447:55922571:55922747:55922899:55922916	55922571:55922747
exon_skip_229359	chr2	55922360:55922447:55922610:55922747:55922899:55922939	55922610:55922747
exon_skip_238103	chr2	55922610:55922747:55922899:55922939:55923711:55923781	55922899:55922939
exon_skip_24880	chr2	55922360:55922447:55922610:55922691:55922899:55922916	55922610:55922691
exon_skip_261629	chr2	55870720:55870915:55871000:55871123:55874946:55875065	55871000:55871123
exon_skip_40520	chr2	55877746:55877865:55881612:55881734:55917665:55917780	55881612:55881734
exon_skip_57872	chr2	55922360:55922447:55922610:55922747:55923711:55923776	55922610:55922747
exon_skip_64636	chr2	55922360:55922447:55922610:55922747:55923711:55923781	55922610:55922747
exon_skip_70790	chr2	55922360:55922447:55922571:55922691:55922899:55922939	55922571:55922691
exon_skip_85289	chr2	55922360:55922447:55922610:55922747:55922899:55922916	55922610:55922747

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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Open reading frame (ORF) annotation in the exon skipping event for EFEMP1

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000355426	55871000	55871123	Frame-shift
ENST00000394555	55871000	55871123	Frame-shift
ENST00000355426	55876623	55876742	In-frame
ENST00000394555	55876623	55876742	In-frame
ENST00000355426	55877746	55877865	In-frame
ENST00000394555	55877746	55877865	In-frame
ENST00000355426	55881612	55881734	In-frame
ENST00000394555	55881612	55881734	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000355426	55871000	55871123	Frame-shift
ENST00000394555	55871000	55871123	Frame-shift
ENST00000355426	55876623	55876742	In-frame
ENST00000394555	55876623	55876742	In-frame
ENST00000355426	55877746	55877865	In-frame
ENST00000394555	55877746	55877865	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000355426	55871000	55871123	Frame-shift
ENST00000394555	55871000	55871123	Frame-shift
ENST00000355426	55876623	55876742	In-frame
ENST00000394555	55876623	55876742	In-frame
ENST00000355426	55877746	55877865	In-frame
ENST00000394555	55877746	55877865	In-frame

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Infer the effects of exon skipping event on protein functional features for EFEMP1

p-ENSG00000115380_img4.png
boxplot

Loci of skipped exons in ROSMAP 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
ENST00000355426	1837	493	55881612	55881734	643	764	172	213
ENST00000394555	3041	493	55881612	55881734	954	1075	172	213
ENST00000355426	1837	493	55877746	55877865	766	884	213	253
ENST00000394555	3041	493	55877746	55877865	1077	1195	213	253
ENST00000355426	1837	493	55876623	55876742	886	1004	253	293
ENST00000394555	3041	493	55876623	55876742	1197	1315	253	293

Loci of skipped exons in MSBB 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
ENST00000355426	1837	493	55877746	55877865	766	884	213	253
ENST00000394555	3041	493	55877746	55877865	1077	1195	213	253
ENST00000355426	1837	493	55876623	55876742	886	1004	253	293
ENST00000394555	3041	493	55876623	55876742	1197	1315	253	293

Loci of skipped exons in Mayo 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
ENST00000355426	1837	493	55877746	55877865	766	884	213	253
ENST00000394555	3041	493	55877746	55877865	1077	1195	213	253
ENST00000355426	1837	493	55876623	55876742	886	1004	253	293
ENST00000394555	3041	493	55876623	55876742	1197	1315	253	293

Lost protein functional features of individual exon skipping events in ROSMAP.

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
Q12805	172	213	18	493	Chain	ID=PRO_0000007570;Note=EGF-containing fibulin-like extracellular matrix protein 1
Q12805	172	213	18	493	Chain	ID=PRO_0000007570;Note=EGF-containing fibulin-like extracellular matrix protein 1
Q12805	172	213	177	190	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	172	213	177	190	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	172	213	184	199	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	172	213	184	199	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	172	213	201	212	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	172	213	201	212	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	172	213	173	213	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	172	213	173	213	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	214	293	Alternative sequence	ID=VSP_054373;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12805	213	253	214	293	Alternative sequence	ID=VSP_054373;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12805	213	253	18	493	Chain	ID=PRO_0000007570;Note=EGF-containing fibulin-like extracellular matrix protein 1
Q12805	213	253	18	493	Chain	ID=PRO_0000007570;Note=EGF-containing fibulin-like extracellular matrix protein 1
Q12805	213	253	218	228	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	218	228	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	224	237	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	224	237	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	239	252	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	239	252	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	173	213	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	173	213	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	214	253	Domain	Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	214	253	Domain	Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	249	249	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q12805	213	253	249	249	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q12805	213	253	220	220	Natural variant	ID=VAR_009512;Note=I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10369267;Dbxref=dbSNP:rs748965004,PMID:10369267
Q12805	213	253	220	220	Natural variant	ID=VAR_009512;Note=I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10369267;Dbxref=dbSNP:rs748965004,PMID:10369267
Q12805	253	293	214	293	Alternative sequence	ID=VSP_054373;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12805	253	293	214	293	Alternative sequence	ID=VSP_054373;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12805	253	293	18	493	Chain	ID=PRO_0000007570;Note=EGF-containing fibulin-like extracellular matrix protein 1
Q12805	253	293	18	493	Chain	ID=PRO_0000007570;Note=EGF-containing fibulin-like extracellular matrix protein 1
Q12805	253	293	258	268	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	258	268	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	264	277	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	264	277	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	279	292	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	279	292	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	214	253	Domain	Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	214	253	Domain	Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	254	293	Domain	Note=EGF-like 4%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	254	293	Domain	Note=EGF-like 4%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	259	493	Region	Note=Mediates interaction with TIMP3;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15123717;Dbxref=PMID:15123717
Q12805	253	293	259	493	Region	Note=Mediates interaction with TIMP3;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15123717;Dbxref=PMID:15123717

Lost protein functional features of individual exon skipping events in MSBB.

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
Q12805	213	253	214	293	Alternative sequence	ID=VSP_054373;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12805	213	253	214	293	Alternative sequence	ID=VSP_054373;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12805	213	253	18	493	Chain	ID=PRO_0000007570;Note=EGF-containing fibulin-like extracellular matrix protein 1
Q12805	213	253	18	493	Chain	ID=PRO_0000007570;Note=EGF-containing fibulin-like extracellular matrix protein 1
Q12805	213	253	218	228	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	218	228	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	224	237	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	224	237	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	239	252	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	239	252	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	173	213	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	173	213	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	214	253	Domain	Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	214	253	Domain	Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	249	249	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q12805	213	253	249	249	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q12805	213	253	220	220	Natural variant	ID=VAR_009512;Note=I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10369267;Dbxref=dbSNP:rs748965004,PMID:10369267
Q12805	213	253	220	220	Natural variant	ID=VAR_009512;Note=I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10369267;Dbxref=dbSNP:rs748965004,PMID:10369267
Q12805	253	293	214	293	Alternative sequence	ID=VSP_054373;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12805	253	293	214	293	Alternative sequence	ID=VSP_054373;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12805	253	293	18	493	Chain	ID=PRO_0000007570;Note=EGF-containing fibulin-like extracellular matrix protein 1
Q12805	253	293	18	493	Chain	ID=PRO_0000007570;Note=EGF-containing fibulin-like extracellular matrix protein 1
Q12805	253	293	258	268	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	258	268	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	264	277	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	264	277	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	279	292	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	279	292	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	214	253	Domain	Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	214	253	Domain	Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	254	293	Domain	Note=EGF-like 4%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	254	293	Domain	Note=EGF-like 4%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	259	493	Region	Note=Mediates interaction with TIMP3;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15123717;Dbxref=PMID:15123717
Q12805	253	293	259	493	Region	Note=Mediates interaction with TIMP3;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15123717;Dbxref=PMID:15123717

Lost protein functional features of individual exon skipping events in Mayo.

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
Q12805	213	253	214	293	Alternative sequence	ID=VSP_054373;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12805	213	253	214	293	Alternative sequence	ID=VSP_054373;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12805	213	253	18	493	Chain	ID=PRO_0000007570;Note=EGF-containing fibulin-like extracellular matrix protein 1
Q12805	213	253	18	493	Chain	ID=PRO_0000007570;Note=EGF-containing fibulin-like extracellular matrix protein 1
Q12805	213	253	218	228	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	218	228	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	224	237	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	224	237	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	239	252	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	239	252	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	173	213	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	173	213	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	214	253	Domain	Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	214	253	Domain	Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	213	253	249	249	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q12805	213	253	249	249	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q12805	213	253	220	220	Natural variant	ID=VAR_009512;Note=I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10369267;Dbxref=dbSNP:rs748965004,PMID:10369267
Q12805	213	253	220	220	Natural variant	ID=VAR_009512;Note=I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10369267;Dbxref=dbSNP:rs748965004,PMID:10369267
Q12805	253	293	214	293	Alternative sequence	ID=VSP_054373;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12805	253	293	214	293	Alternative sequence	ID=VSP_054373;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12805	253	293	18	493	Chain	ID=PRO_0000007570;Note=EGF-containing fibulin-like extracellular matrix protein 1
Q12805	253	293	18	493	Chain	ID=PRO_0000007570;Note=EGF-containing fibulin-like extracellular matrix protein 1
Q12805	253	293	258	268	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	258	268	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	264	277	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	264	277	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	279	292	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	279	292	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	214	253	Domain	Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	214	253	Domain	Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	254	293	Domain	Note=EGF-like 4%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	254	293	Domain	Note=EGF-like 4%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q12805	253	293	259	493	Region	Note=Mediates interaction with TIMP3;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15123717;Dbxref=PMID:15123717
Q12805	253	293	259	493	Region	Note=Mediates interaction with TIMP3;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15123717;Dbxref=PMID:15123717

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3'-UTR located exon skipping events that lost miRNA binding sites in EFEMP1

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for EFEMP1

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for EFEMP1

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EFEMP1

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for EFEMP1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	TIA1	exon_skip_251523	4.241926e-01	9.521500e-08
CB	NUP42	exon_skip_251523	4.776524e-01	1.085532e-09

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RelatedDrugs for EFEMP1

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for EFEMP1

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 RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for EFEMP1

Gene structures and expression levels for EFEMP1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for EFEMP1

Open reading frame (ORF) annotation in the exon skipping event for EFEMP1

Infer the effects of exon skipping event on protein functional features for EFEMP1

3'-UTR located exon skipping events that lost miRNA binding sites in EFEMP1

SNVs in the skipped exons for EFEMP1

AD stage-associated exon skippint events for EFEMP1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EFEMP1

Correlation with RNA binding proteins (RBPs) for EFEMP1

RelatedDrugs for EFEMP1

RelatedDiseases for EFEMP1