ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for FN1

Gene summary

Gene information	Gene symbol	FN1
	Gene ID	2335
	Gene name	fibronectin 1
	Synonyms	CIG\|ED-B\|FINC\|FN\|FNZ\|GFND\|GFND2\|LETS\|MSF\|SMDCF
	Cytomap	2q35
	Type of gene	protein-coding
	Description	fibronectincold-insoluble globulinepididymis secretory sperm binding proteinmigration-stimulating factor
	Modification date	20200329
	UniProtAcc	A0A024R462, A6YID2, A6YID3, A6YID4, A6YID5, A6YID6, A6YID7, B7ZLE5, H0Y4K8, H0Y7Z1, O95608, P02751, Q14327, Q14328, Q6PJE5, Q7L553,
	Context	- 31199948(Anxiolytic impact of Apelin-13 in a rat model of Alzheimer's disease: Involvement of glucocorticoid receptor and FKBP5)

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

Gene	GO ID	GO term	PubMed ID
FN1	GO:0001932	regulation of protein phosphorylation	11792823
FN1	GO:0008284	positive regulation of cell proliferation	25834989
FN1	GO:0010628	positive regulation of gene expression	25834989
FN1	GO:0018149	peptide cross-linking	3997886
FN1	GO:0034446	substrate adhesion-dependent cell spreading	16236823
FN1	GO:0035987	endodermal cell differentiation	23154389
FN1	GO:0048146	positive regulation of fibroblast proliferation	25834989
FN1	GO:0051702	interaction with symbiont	12167537\|12421310\|19429745
FN1	GO:0070372	regulation of ERK1 and ERK2 cascade	11792823
FN1	GO:1901166	neural crest cell migration involved in autonomic nervous system development	26571399
FN1	GO:1904237	positive regulation of substrate-dependent cell migration, cell attachment to substrate	25834989
FN1	GO:2001202	negative regulation of transforming growth factor-beta secretion	25834989

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Gene structures and expression levels for FN1

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.

ENSG00000115414

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
PCC	UP	ENST00000498719.1	FN1-227:retained_intron:FN1	4.691158e+01	8.850015e-01	2.669913e-07	9.988504e-05
HCC	DOWN	ENST00000335211.8	IGFN1-202:protein_coding:IGFN1	1.556765e+01	-8.732993e-01	9.547880e-06	1.357393e-03
STG	UP	ENST00000432072.6	FN1-209:protein_coding:FN1	2.058983e+02	1.778679e+00	2.955449e-04	2.044746e-02
PG	UP	ENST00000566473.6	ANKFN1-202:protein_coding:ANKFN1	2.100219e+01	1.178969e+00	6.339929e-08	1.048752e-05
PG	UP	ENST00000480737.1	FN1-221:retained_intron:FN1	5.723834e+00	1.716201e+00	1.659472e-05	7.312099e-04
PG	UP	ENST00000494446.1	FN1-225:retained_intron:FN1	3.585216e+01	1.123584e+00	6.710864e-05	2.047158e-03
PG	UP	ENST00000443816.5	FN1-211:protein_coding:FN1	3.663011e+02	1.616369e+00	6.856988e-04	1.108236e-02
PG	UP	ENST00000432072.6	FN1-209:protein_coding:FN1	2.532051e+02	8.811292e-01	3.324233e-03	3.427748e-02
PG	DOWN	ENST00000489329.5	MFN1-209:protein_coding:MFN1	3.793687e+00	-1.197017e+00	3.657991e-03	3.674895e-02
PG	UP	ENST00000446046.5	FN1-212:protein_coding:FN1	2.767102e+02	1.112578e+00	4.777432e-03	4.427012e-02
CB	DOWN	ENST00000498719.1	FN1-227:retained_intron:FN1	1.183612e+02	-1.188030e+00	1.901506e-09	7.427200e-08
CB	DOWN	ENST00000573365.2	ANKFN1-206:lncRNA:ANKFN1	5.785781e-01	-1.278973e+00	4.338347e-04	2.554310e-03
CB	UP	ENST00000446046.5	FN1-212:protein_coding:FN1	2.775299e+02	8.029084e-01	2.540037e-03	1.123818e-02
TC	DOWN	ENST00000498719.1	FN1-227:retained_intron:FN1	1.214320e+02	-1.964226e+00	1.423478e-20	4.079332e-17
TC	UP	ENST00000446046.5	FN1-212:protein_coding:FN1	7.418180e+02	9.965980e-01	1.378468e-06	5.193218e-05
TC	DOWN	ENST00000335211.8	IGFN1-202:protein_coding:IGFN1	6.217742e+01	-8.027022e-01	1.477310e-05	3.532294e-04
TC	UP	ENST00000432072.6	FN1-209:protein_coding:FN1	3.241765e+02	1.111459e+00	4.887747e-05	9.142170e-04
TC	UP	ENST00000443816.5	FN1-211:protein_coding:FN1	8.709438e+02	1.042327e+00	4.782298e-04	5.555560e-03
TC	DOWN	ENST00000412892.2	IGFN1-203:protein_coding:IGFN1	5.604131e+00	-1.393667e+00	6.349214e-03	4.002257e-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 FN1

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_102557	chr2	215371909:215372015:215372109:215372375:215373322:215373411	215372109:215372375
exon_skip_110662	chr2	215371909:215372015:215372109:215372300:215373322:215373411	215372109:215372300
exon_skip_123534	chr2	215367863:215368027:215370294:215370432:215371909:215372015	215370294:215370432
exon_skip_155936	chr2	215431833:215431964:215433324:215433461:215434696:215434824	215433324:215433461
exon_skip_214450	chr2	215365505:215365630:215367863:215368027:215370294:215370432	215367863:215368027
exon_skip_269954	chr2	215391632:215391814:215392931:215393203:215394528:215394719	215392931:215393203
exon_skip_270850	chr2	215379205:215379317:215380811:215381080:215382212:215382325	215380811:215381080
exon_skip_57394	chr2	215361341:215361626:215361969:215362079:215364879:215364985	215361969:215362079

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 FN1

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
ENST00000359671	215380811	215381080	In-frame
ENST00000359671	215433324	215433461	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
ENST00000359671	215370294	215370432	Frame-shift
ENST00000359671	215380811	215381080	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
ENST00000359671	215370294	215370432	Frame-shift
ENST00000359671	215361969	215362079	In-frame
ENST00000359671	215367863	215368027	In-frame
ENST00000359671	215380811	215381080	In-frame

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Infer the effects of exon skipping event on protein functional features for FN1

p-ENSG00000115414_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
ENST00000359671	8541	2386	215433324	215433461	544	680	92	138
ENST00000359671	8541	2386	215380811	215381080	5158	5426	1630	1720

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
ENST00000359671	8541	2386	215380811	215381080	5158	5426	1630	1720

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
ENST00000359671	8541	2386	215380811	215381080	5158	5426	1630	1720
ENST00000359671	8541	2386	215367863	215368027	6847	7010	2193	2248
ENST00000359671	8541	2386	215361969	215362079	7245	7354	2326	2362

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
P02751	92	138	96	98	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CG7
P02751	92	138	105	107	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CG7
P02751	92	138	111	116	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CG7
P02751	92	138	119	127	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CG7
P02751	92	138	132	136	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CG7
P02751	92	138	32	2386	Chain	ID=PRO_0000019235;Note=Fibronectin
P02751	92	138	97	125	Disulfide bond	.
P02751	92	138	123	135	Disulfide bond	.
P02751	92	138	95	138	Domain	Note=Fibronectin type-I 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00478
P02751	92	138	123	123	Natural variant	ID=VAR_080524;Note=In SMDCF. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29100092;Dbxref=PMID:29100092
P02751	92	138	52	272	Region	Note=Fibrin- and heparin-binding 1
P02751	92	138	126	126	Sequence conflict	Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P02751	92	138	100	102	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CG7
P02751	92	138	128	131	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CG7
P02751	1630	1720	658	2386	Alternative sequence	ID=VSP_003257;Note=In isoform 2 and isoform 16. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11737888,ECO:0000303\|PubMed:16322219,ECO:0000303\|PubMed:17974005;Dbxref=PMID:11737888,PMID:16322219,PMID:17974005
P02751	1630	1720	1631	1721	Alternative sequence	ID=VSP_008106;Note=In isoform 8%2C isoform 9%2C isoform 10%2C isoform 12%2C isoform 13 and isoform 14. NIDRPKGLAFTDVDVDSIKIAWESPQGQVSRYRVTYSSPEDGIHELFPAPDGEEDTAELQGLRPGSEYTVSVVALHDDMESQPLIGTQSTA->T;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:000
P02751	1630	1720	1621	1630	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5DFT
P02751	1630	1720	1639	1644	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1647	1651	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1662	1668	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1672	1676	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1686	1689	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1696	1704	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1706	1708	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1714	1719	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	32	2386	Chain	ID=PRO_0000019235;Note=Fibronectin
P02751	1630	1720	1544	1635	Domain	Note=Fibronectin type-III 11;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P02751	1630	1720	1636	1723	Domain	Note=Fibronectin type-III 12%3B extra domain;Ontology_term=ECO:0000255,ECO:0000255,ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316,ECO:0000255\|PROSITE-ProRule:PRU00478,ECO:0000255\|PROSITE-ProRule:PRU00479
P02751	1630	1720	1715	1721	Sequence conflict	Note=IGTQSTA->VQTAVTT;Ontology_term=ECO:0000305;evidence=ECO:0000305
P02751	1630	1720	1669	1671	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K

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
P02751	1630	1720	658	2386	Alternative sequence	ID=VSP_003257;Note=In isoform 2 and isoform 16. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11737888,ECO:0000303\|PubMed:16322219,ECO:0000303\|PubMed:17974005;Dbxref=PMID:11737888,PMID:16322219,PMID:17974005
P02751	1630	1720	1631	1721	Alternative sequence	ID=VSP_008106;Note=In isoform 8%2C isoform 9%2C isoform 10%2C isoform 12%2C isoform 13 and isoform 14. NIDRPKGLAFTDVDVDSIKIAWESPQGQVSRYRVTYSSPEDGIHELFPAPDGEEDTAELQGLRPGSEYTVSVVALHDDMESQPLIGTQSTA->T;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:000
P02751	1630	1720	1621	1630	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5DFT
P02751	1630	1720	1639	1644	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1647	1651	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1662	1668	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1672	1676	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1686	1689	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1696	1704	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1706	1708	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1714	1719	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	32	2386	Chain	ID=PRO_0000019235;Note=Fibronectin
P02751	1630	1720	1544	1635	Domain	Note=Fibronectin type-III 11;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P02751	1630	1720	1636	1723	Domain	Note=Fibronectin type-III 12%3B extra domain;Ontology_term=ECO:0000255,ECO:0000255,ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316,ECO:0000255\|PROSITE-ProRule:PRU00478,ECO:0000255\|PROSITE-ProRule:PRU00479
P02751	1630	1720	1715	1721	Sequence conflict	Note=IGTQSTA->VQTAVTT;Ontology_term=ECO:0000305;evidence=ECO:0000305
P02751	1630	1720	1669	1671	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K

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
P02751	1630	1720	658	2386	Alternative sequence	ID=VSP_003257;Note=In isoform 2 and isoform 16. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11737888,ECO:0000303\|PubMed:16322219,ECO:0000303\|PubMed:17974005;Dbxref=PMID:11737888,PMID:16322219,PMID:17974005
P02751	1630	1720	1631	1721	Alternative sequence	ID=VSP_008106;Note=In isoform 8%2C isoform 9%2C isoform 10%2C isoform 12%2C isoform 13 and isoform 14. NIDRPKGLAFTDVDVDSIKIAWESPQGQVSRYRVTYSSPEDGIHELFPAPDGEEDTAELQGLRPGSEYTVSVVALHDDMESQPLIGTQSTA->T;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:000
P02751	1630	1720	1621	1630	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5DFT
P02751	1630	1720	1639	1644	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1647	1651	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1662	1668	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1672	1676	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1686	1689	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1696	1704	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1706	1708	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	1714	1719	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	1630	1720	32	2386	Chain	ID=PRO_0000019235;Note=Fibronectin
P02751	1630	1720	1544	1635	Domain	Note=Fibronectin type-III 11;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P02751	1630	1720	1636	1723	Domain	Note=Fibronectin type-III 12%3B extra domain;Ontology_term=ECO:0000255,ECO:0000255,ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316,ECO:0000255\|PROSITE-ProRule:PRU00478,ECO:0000255\|PROSITE-ProRule:PRU00479
P02751	1630	1720	1715	1721	Sequence conflict	Note=IGTQSTA->VQTAVTT;Ontology_term=ECO:0000305;evidence=ECO:0000305
P02751	1630	1720	1669	1671	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1J8K
P02751	2193	2248	658	2386	Alternative sequence	ID=VSP_003257;Note=In isoform 2 and isoform 16. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11737888,ECO:0000303\|PubMed:16322219,ECO:0000303\|PubMed:17974005;Dbxref=PMID:11737888,PMID:16322219,PMID:17974005
P02751	2193	2248	1992	2193	Alternative sequence	ID=VSP_008109;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12127832;Dbxref=PMID:12127832
P02751	2193	2248	2152	2386	Alternative sequence	ID=VSP_008112;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12127832;Dbxref=PMID:12127832
P02751	2193	2248	2193	2247	Alternative sequence	ID=VSP_008113;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12127832;Dbxref=PMID:12127832
P02751	2193	2248	32	2386	Chain	ID=PRO_0000019235;Note=Fibronectin
P02751	2193	2248	2206	2235	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P02751	2193	2248	2233	2245	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P02751	2193	2248	2103	2197	Domain	Note=Fibronectin type-III 16;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
P02751	2193	2248	2204	2248	Domain	Note=Fibronectin type-I 10;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00478
P02751	2193	2248	2206	2337	Region	Note=Fibrin-binding 2
P02751	2326	2362	658	2386	Alternative sequence	ID=VSP_003257;Note=In isoform 2 and isoform 16. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11737888,ECO:0000303\|PubMed:16322219,ECO:0000303\|PubMed:17974005;Dbxref=PMID:11737888,PMID:16322219,PMID:17974005
P02751	2326	2362	2152	2386	Alternative sequence	ID=VSP_008112;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12127832;Dbxref=PMID:12127832
P02751	2326	2362	32	2386	Chain	ID=PRO_0000019235;Note=Fibronectin
P02751	2326	2362	2317	2333	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P02751	2326	2362	2293	2336	Domain	Note=Fibronectin type-I 12;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00478
P02751	2326	2362	2206	2337	Region	Note=Fibrin-binding 2
P02751	2326	2362	2341	2341	Sequence conflict	Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
P02751	2326	2362	2341	2341	Sequence conflict	Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
P02751	2326	2362	2341	2341	Sequence conflict	Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
P02751	2326	2362	2341	2341	Sequence conflict	Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305

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3'-UTR located exon skipping events that lost miRNA binding sites in FN1

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 FN1

- 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 FN1

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 FN1

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
TC	exon_skip_269954	rs11892429	chr2:215317105	2.588335e-04	3.495987e-02
TC	exon_skip_269954	rs7568287	chr2:215367833	2.762900e-04	3.672848e-02
HCC	exon_skip_270850	rs1347694	chr2:215418835	1.454233e-04	1.250846e-02
DLPFC	exon_skip_270850	rs1250233	chr2:215442380	1.160602e-05	1.286640e-03
DLPFC	exon_skip_270850	rs1250253	chr2:215448970	1.237010e-05	1.359948e-03
DLPFC	exon_skip_270850	rs1437787	chr2:215453514	1.237010e-05	1.359948e-03
DLPFC	exon_skip_270850	rs7572169	chr2:215403721	1.955344e-05	2.029145e-03
DLPFC	exon_skip_270850	rs6707530	chr2:215375861	9.860547e-05	8.340561e-03
DLPFC	exon_skip_270850	rs13021679	chr2:215411652	9.989649e-05	8.440571e-03
DLPFC	exon_skip_270850	rs1347694	chr2:215418835	2.149192e-04	1.628574e-02
DLPFC	exon_skip_270850	rs2304573	chr2:215378927	3.194914e-04	2.265229e-02

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Correlation with RNA binding proteins (RBPs) for FN1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
IFG	HNRNPF	exon_skip_270850	4.220338e-01	2.528248e-02

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RelatedDrugs for FN1

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

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
P02751	approved\|investigational	DB01593	Zinc	small molecule	P02751
P02751	approved	DB08888	Ocriplasmin	biotech	P02751
P02751	approved\|investigational	DB14487	Zinc acetate	small molecule	P02751
P02751	approved\|investigational	DB14533	Zinc chloride	small molecule	P02751

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RelatedDiseases for FN1

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 FN1

Gene structures and expression levels for FN1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for FN1

Open reading frame (ORF) annotation in the exon skipping event for FN1

Infer the effects of exon skipping event on protein functional features for FN1

3'-UTR located exon skipping events that lost miRNA binding sites in FN1

SNVs in the skipped exons for FN1

AD stage-associated exon skippint events for FN1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FN1

Correlation with RNA binding proteins (RBPs) for FN1

RelatedDrugs for FN1

RelatedDiseases for FN1