ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for FYN

Gene summary

Gene information	Gene symbol	FYN
	Gene ID	2534
	Gene name	FYN proto-oncogene, Src family tyrosine kinase
	Synonyms	SLK\|SYN\|p59-FYN
	Cytomap	6q21
	Type of gene	protein-coding
	Description	tyrosine-protein kinase FynFYN oncogene related to SRC, FGR, YESOKT3-induced calcium influx regulatorc-syn protooncogeneproto-oncogene Synproto-oncogene c-Fynsrc-like kinasesrc/yes-related noveltyrosine kinase p59fyn(T)
	Modification date	20200327
	UniProtAcc	E5RFM0, E5RFM4, E5RFM6, E5RFS5, E5RGM6, E5RGT0, E5RH71, E5RHF7, E5RHX7, E5RI25, E5RIX5, E5RJX7, E5RK23, P06241, P78484, Q14342,
	Context

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

Gene	GO ID	GO term	PubMed ID
FYN	GO:0050852	T cell receptor signaling pathway	7722293

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Gene structures and expression levels for FYN

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.

ENSG00000010810

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
STG	UP	ENST00000491885.6	FYN-214:lncRNA:FYN	9.526247e+00	2.235941e+00	1.679811e-03	4.982609e-02
CB	UP	ENST00000523238.5	FYN-224:protein_coding:FYN	3.953067e+01	1.343669e+00	6.922862e-13	1.097969e-10
CB	UP	ENST00000368678.8	FYN-204:protein_coding:FYN	3.104342e+01	3.294889e+00	1.590688e-05	1.562641e-04
CB	UP	ENST00000462598.7	FYN-206:protein_coding:FYN	1.869474e+00	1.079286e+00	1.524023e-04	1.059221e-03
CB	UP	ENST00000368682.7	FYN-205:protein_coding:FYN	5.663314e+02	1.288267e+00	4.506494e-04	2.637976e-03
CB	DOWN	ENST00000491885.6	FYN-214:lncRNA:FYN	1.817354e+01	-3.234547e+00	1.447072e-03	7.047119e-03
CB	UP	ENST00000484067.6	FYN-212:protein_coding:FYN	8.817720e+00	3.516421e+00	2.026649e-03	9.316967e-03
CB	UP	ENST00000523574.5	FYN-227:protein_coding:FYN	1.284814e+00	1.526545e+00	1.186879e-02	3.996923e-02
CB	DOWN	ENST00000538466.5	FYN-229:protein_coding:FYN	4.363660e+02	-1.660015e+00	1.211281e-02	4.062331e-02
TC	UP	ENST00000520518.5	FYN-221:protein_coding:FYN	2.894579e+01	9.277075e-01	1.698417e-12	5.855323e-10
TC	UP	ENST00000368678.8	FYN-204:protein_coding:FYN	9.932126e+01	3.743464e+00	2.483332e-12	7.981243e-10
TC	UP	ENST00000368682.7	FYN-205:protein_coding:FYN	8.458491e+02	1.381390e+00	7.754513e-10	1.059265e-07
TC	UP	ENST00000523238.5	FYN-224:protein_coding:FYN	2.341223e+01	9.311057e-01	2.837602e-08	2.151759e-06
TC	UP	ENST00000487824.2	FYN-213:protein_coding:FYN	1.898914e+00	3.813603e+00	2.261631e-05	4.925599e-04
TC	UP	ENST00000523570.5	FYN-226:protein_coding:FYN	1.286847e+00	1.882274e+00	5.756629e-04	6.431079e-03
TC	DOWN	ENST00000229471.8	FYN-201:protein_coding:FYN	3.061981e+02	-8.816679e-01	5.824952e-04	6.490014e-03
TC	UP	ENST00000462598.7	FYN-206:protein_coding:FYN	1.277978e+00	1.035895e+00	8.813195e-04	8.961472e-03
TC	DOWN	ENST00000491885.6	FYN-214:lncRNA:FYN	1.859337e+01	-2.611397e+00	3.937079e-03	2.798815e-02
TC	UP	ENST00000484067.6	FYN-212:protein_coding:FYN	2.548401e+01	1.731422e+00	8.408835e-03	4.934455e-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 FYN

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_126178	chr6	111780566:111780635:111846589:111846629:111872968:111873037	111846589:111846629
exon_skip_12922	chr6	111780566:111780635:111813892:111814107:111846589:111846615	111813892:111814107
exon_skip_130451	chr6	111780566:111780635:111846589:111846629:111872968:111873032	111846589:111846629
exon_skip_132181	chr6	111719858:111720062:111740981:111741093:111780566:111780635	111740981:111741093
exon_skip_153105	chr6	111694628:111694704:111696277:111696456:111702885:111703034	111696277:111696456
exon_skip_162605	chr6	111719858:111720062:111780566:111780635:111872968:111873037	111780566:111780635
exon_skip_165065	chr6	111704088:111704102:111707922:111708020:111714347:111714443	111707922:111708020
exon_skip_173202	chr6	111696300:111696456:111700104:111700268:111702885:111702986	111700104:111700268
exon_skip_173699	chr6	111708017:111708020:111714347:111714443:111719805:111720062	111714347:111714443
exon_skip_183195	chr6	111696436:111696456:111700104:111700268:111702885:111702986	111700104:111700268
exon_skip_196637	chr6	111780566:111780635:111818615:111818740:111819860:111819980	111818615:111818740
exon_skip_208	chr6	111696277:111696456:111700104:111700268:111702885:111703034	111700104:111700268
exon_skip_214726	chr6	111696436:111696456:111699515:111699670:111702885:111702986	111699515:111699670
exon_skip_223868	chr6	111780566:111780635:111846589:111846629:111872968:111872981	111846589:111846629
exon_skip_251430	chr6	111719858:111720062:111754434:111754677:111780566:111780635	111754434:111754677
exon_skip_258341	chr6	111719856:111720062:111754434:111754677:111780566:111780635	111754434:111754677
exon_skip_25847	chr6	111694628:111694704:111696277:111696456:111699515:111699668	111696277:111696456
exon_skip_269611	chr6	111694628:111694704:111696277:111696456:111700104:111700268	111696277:111696456
exon_skip_289275	chr6	111694628:111694704:111696277:111696456:111702885:111702986	111696277:111696456
exon_skip_30908	chr6	111719858:111720062:111780566:111780635:111846589:111846615	111780566:111780635
exon_skip_35837	chr6	111719858:111720062:111846589:111846629:111872968:111873037	111846589:111846629
exon_skip_44046	chr6	111780566:111780635:111818615:111818740:111819860:111820078	111818615:111818740
exon_skip_63984	chr6	111696277:111696456:111699515:111699670:111702885:111703034	111699515:111699670
exon_skip_7356	chr6	111719805:111720062:111780566:111780635:111846589:111846629	111780566:111780635
exon_skip_74503	chr6	111696300:111696456:111699515:111699670:111702885:111702986	111699515:111699670
exon_skip_8019	chr6	111719858:111720062:111740981:111741097:111780566:111780635	111740981:111741097
exon_skip_98342	chr6	111661760:111661947:111674499:111674630:111694375:111694528	111674499:111674630

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 FYN

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
ENST00000354650	111780566	111780635	3UTR-3UTR
ENST00000354650	111846589	111846629	3UTR-3UTR
ENST00000354650	111674499	111674630	In-frame
ENST00000368667	111674499	111674630	In-frame
ENST00000354650	111696277	111696456	In-frame
ENST00000368667	111696277	111696456	In-frame
ENST00000354650	111700104	111700268	In-frame
ENST00000368667	111700104	111700268	In-frame
ENST00000354650	111707922	111708020	In-frame
ENST00000368667	111707922	111708020	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
ENST00000354650	111846589	111846629	3UTR-3UTR
ENST00000354650	111700104	111700268	In-frame
ENST00000368667	111700104	111700268	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
ENST00000354650	111780566	111780635	3UTR-3UTR
ENST00000354650	111846589	111846629	3UTR-3UTR
ENST00000354650	111714347	111714443	Frame-shift
ENST00000368667	111714347	111714443	Frame-shift
ENST00000354650	111674499	111674630	In-frame
ENST00000368667	111674499	111674630	In-frame
ENST00000354650	111700104	111700268	In-frame
ENST00000368667	111700104	111700268	In-frame
ENST00000354650	111707922	111708020	In-frame
ENST00000368667	111707922	111708020	In-frame

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

p-ENSG00000010810_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
ENST00000354650	3645	537	111707922	111708020	952	1049	115	147
ENST00000368667	2433	537	111707922	111708020	690	787	115	147
ENST00000354650	3645	537	111700104	111700268	1305	1468	232	287
ENST00000368667	2433	537	111700104	111700268	1043	1206	232	287
ENST00000354650	3645	537	111696277	111696456	1470	1648	287	347
ENST00000368667	2433	537	111696277	111696456	1208	1386	287	347
ENST00000354650	3645	537	111674499	111674630	1881	2011	424	468
ENST00000368667	2433	537	111674499	111674630	1619	1749	424	468

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
ENST00000354650	3645	537	111700104	111700268	1305	1468	232	287
ENST00000368667	2433	537	111700104	111700268	1043	1206	232	287

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
ENST00000354650	3645	537	111707922	111708020	952	1049	115	147
ENST00000368667	2433	537	111707922	111708020	690	787	115	147
ENST00000354650	3645	537	111700104	111700268	1305	1468	232	287
ENST00000368667	2433	537	111700104	111700268	1043	1206	232	287
ENST00000354650	3645	537	111674499	111674630	1881	2011	424	468
ENST00000368667	2433	537	111674499	111674630	1619	1749	424	468

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
P06241	115	147	115	124	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	115	124	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	130	134	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	130	134	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	138	141	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	138	141	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	147	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1G83
P06241	115	147	147	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1G83
P06241	115	147	2	537	Chain	ID=PRO_0000088099;Note=Tyrosine-protein kinase Fyn
P06241	115	147	2	537	Chain	ID=PRO_0000088099;Note=Tyrosine-protein kinase Fyn
P06241	115	147	82	143	Domain	Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
P06241	115	147	82	143	Domain	Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
P06241	115	147	135	137	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	135	137	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	144	146	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1G83
P06241	115	147	144	146	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1G83
P06241	115	147	125	127	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	125	127	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	232	287	233	287	Alternative sequence	ID=VSP_024108;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P06241	232	287	233	287	Alternative sequence	ID=VSP_024108;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P06241	232	287	234	287	Alternative sequence	ID=VSP_024110;Note=In isoform 2. RAAGLCCRLVVPCHKGMPRLTDLSVKTKDVWEIPRESLQLIKRLGNGQFGEVWM->KADGLCFNLTVIASSCTPQTSGLAKDAWEVARRSLCLEKKLGQGCFAEVWL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7822789;Dbxref=PMID:7822789
P06241	232	287	234	287	Alternative sequence	ID=VSP_024110;Note=In isoform 2. RAAGLCCRLVVPCHKGMPRLTDLSVKTKDVWEIPRESLQLIKRLGNGQFGEVWM->KADGLCFNLTVIASSCTPQTSGLAKDAWEVARRSLCLEKKLGQGCFAEVWL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7822789;Dbxref=PMID:7822789
P06241	232	287	238	240	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4U1P
P06241	232	287	238	240	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4U1P
P06241	232	287	263	265	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	263	265	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	271	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	271	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	285	290	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	285	290	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	2	537	Chain	ID=PRO_0000088099;Note=Tyrosine-protein kinase Fyn
P06241	232	287	2	537	Chain	ID=PRO_0000088099;Note=Tyrosine-protein kinase Fyn
P06241	232	287	149	246	Domain	Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
P06241	232	287	149	246	Domain	Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
P06241	232	287	271	524	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	232	287	271	524	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	232	287	224	233	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4U1P
P06241	232	287	224	233	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4U1P
P06241	232	287	268	270	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	268	270	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	243	243	Natural variant	ID=VAR_041704;Note=In a lung squamous cell carcinoma sample%3B somatic mutation. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=PMID:17344846
P06241	232	287	243	243	Natural variant	ID=VAR_041704;Note=In a lung squamous cell carcinoma sample%3B somatic mutation. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=PMID:17344846
P06241	232	287	277	285	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	232	287	277	285	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	287	347	233	287	Alternative sequence	ID=VSP_024108;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P06241	287	347	233	287	Alternative sequence	ID=VSP_024108;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P06241	287	347	234	287	Alternative sequence	ID=VSP_024110;Note=In isoform 2. RAAGLCCRLVVPCHKGMPRLTDLSVKTKDVWEIPRESLQLIKRLGNGQFGEVWM->KADGLCFNLTVIASSCTPQTSGLAKDAWEVARRSLCLEKKLGQGCFAEVWL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7822789;Dbxref=PMID:7822789
P06241	287	347	234	287	Alternative sequence	ID=VSP_024110;Note=In isoform 2. RAAGLCCRLVVPCHKGMPRLTDLSVKTKDVWEIPRESLQLIKRLGNGQFGEVWM->KADGLCFNLTVIASSCTPQTSGLAKDAWEVARRSLCLEKKLGQGCFAEVWL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7822789;Dbxref=PMID:7822789
P06241	287	347	285	290	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	287	347	285	290	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	287	347	294	299	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	287	347	294	299	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	287	347	329	333	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	287	347	329	333	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	287	347	335	337	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	287	347	335	337	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	287	347	339	343	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	287	347	339	343	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	287	347	299	299	Binding site	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	287	347	299	299	Binding site	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	287	347	2	537	Chain	ID=PRO_0000088099;Note=Tyrosine-protein kinase Fyn
P06241	287	347	2	537	Chain	ID=PRO_0000088099;Note=Tyrosine-protein kinase Fyn
P06241	287	347	271	524	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	287	347	271	524	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	287	347	308	318	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	287	347	308	318	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	287	347	291	293	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	287	347	291	293	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	287	347	303	305	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	287	347	303	305	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	424	468	2	537	Chain	ID=PRO_0000088099;Note=Tyrosine-protein kinase Fyn
P06241	424	468	2	537	Chain	ID=PRO_0000088099;Note=Tyrosine-protein kinase Fyn
P06241	424	468	271	524	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	424	468	271	524	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	424	468	435	438	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	424	468	435	438	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	424	468	445	460	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	424	468	445	460	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	424	468	445	445	Natural variant	ID=VAR_014661;Note=I->F;Dbxref=dbSNP:rs1801121
P06241	424	468	445	445	Natural variant	ID=VAR_014661;Note=I->F;Dbxref=dbSNP:rs1801121
P06241	424	468	437	437	Sequence conflict	Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06241	424	468	437	437	Sequence conflict	Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06241	424	468	437	437	Sequence conflict	Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06241	424	468	437	437	Sequence conflict	Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06241	424	468	430	432	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	424	468	430	432	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7

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
P06241	232	287	233	287	Alternative sequence	ID=VSP_024108;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P06241	232	287	233	287	Alternative sequence	ID=VSP_024108;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P06241	232	287	234	287	Alternative sequence	ID=VSP_024110;Note=In isoform 2. RAAGLCCRLVVPCHKGMPRLTDLSVKTKDVWEIPRESLQLIKRLGNGQFGEVWM->KADGLCFNLTVIASSCTPQTSGLAKDAWEVARRSLCLEKKLGQGCFAEVWL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7822789;Dbxref=PMID:7822789
P06241	232	287	234	287	Alternative sequence	ID=VSP_024110;Note=In isoform 2. RAAGLCCRLVVPCHKGMPRLTDLSVKTKDVWEIPRESLQLIKRLGNGQFGEVWM->KADGLCFNLTVIASSCTPQTSGLAKDAWEVARRSLCLEKKLGQGCFAEVWL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7822789;Dbxref=PMID:7822789
P06241	232	287	238	240	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4U1P
P06241	232	287	238	240	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4U1P
P06241	232	287	263	265	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	263	265	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	271	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	271	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	285	290	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	285	290	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	2	537	Chain	ID=PRO_0000088099;Note=Tyrosine-protein kinase Fyn
P06241	232	287	2	537	Chain	ID=PRO_0000088099;Note=Tyrosine-protein kinase Fyn
P06241	232	287	149	246	Domain	Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
P06241	232	287	149	246	Domain	Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
P06241	232	287	271	524	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	232	287	271	524	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	232	287	224	233	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4U1P
P06241	232	287	224	233	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4U1P
P06241	232	287	268	270	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	268	270	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	243	243	Natural variant	ID=VAR_041704;Note=In a lung squamous cell carcinoma sample%3B somatic mutation. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=PMID:17344846
P06241	232	287	243	243	Natural variant	ID=VAR_041704;Note=In a lung squamous cell carcinoma sample%3B somatic mutation. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=PMID:17344846
P06241	232	287	277	285	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	232	287	277	285	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159

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
P06241	115	147	115	124	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	115	124	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	130	134	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	130	134	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	138	141	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	138	141	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	147	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1G83
P06241	115	147	147	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1G83
P06241	115	147	2	537	Chain	ID=PRO_0000088099;Note=Tyrosine-protein kinase Fyn
P06241	115	147	2	537	Chain	ID=PRO_0000088099;Note=Tyrosine-protein kinase Fyn
P06241	115	147	82	143	Domain	Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
P06241	115	147	82	143	Domain	Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
P06241	115	147	135	137	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	135	137	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	144	146	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1G83
P06241	115	147	144	146	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1G83
P06241	115	147	125	127	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	115	147	125	127	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UA7
P06241	232	287	233	287	Alternative sequence	ID=VSP_024108;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P06241	232	287	233	287	Alternative sequence	ID=VSP_024108;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P06241	232	287	234	287	Alternative sequence	ID=VSP_024110;Note=In isoform 2. RAAGLCCRLVVPCHKGMPRLTDLSVKTKDVWEIPRESLQLIKRLGNGQFGEVWM->KADGLCFNLTVIASSCTPQTSGLAKDAWEVARRSLCLEKKLGQGCFAEVWL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7822789;Dbxref=PMID:7822789
P06241	232	287	234	287	Alternative sequence	ID=VSP_024110;Note=In isoform 2. RAAGLCCRLVVPCHKGMPRLTDLSVKTKDVWEIPRESLQLIKRLGNGQFGEVWM->KADGLCFNLTVIASSCTPQTSGLAKDAWEVARRSLCLEKKLGQGCFAEVWL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7822789;Dbxref=PMID:7822789
P06241	232	287	238	240	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4U1P
P06241	232	287	238	240	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4U1P
P06241	232	287	263	265	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	263	265	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	271	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	271	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	285	290	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	285	290	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	2	537	Chain	ID=PRO_0000088099;Note=Tyrosine-protein kinase Fyn
P06241	232	287	2	537	Chain	ID=PRO_0000088099;Note=Tyrosine-protein kinase Fyn
P06241	232	287	149	246	Domain	Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
P06241	232	287	149	246	Domain	Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
P06241	232	287	271	524	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	232	287	271	524	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	232	287	224	233	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4U1P
P06241	232	287	224	233	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4U1P
P06241	232	287	268	270	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	268	270	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	232	287	243	243	Natural variant	ID=VAR_041704;Note=In a lung squamous cell carcinoma sample%3B somatic mutation. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=PMID:17344846
P06241	232	287	243	243	Natural variant	ID=VAR_041704;Note=In a lung squamous cell carcinoma sample%3B somatic mutation. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=PMID:17344846
P06241	232	287	277	285	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	232	287	277	285	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	424	468	2	537	Chain	ID=PRO_0000088099;Note=Tyrosine-protein kinase Fyn
P06241	424	468	2	537	Chain	ID=PRO_0000088099;Note=Tyrosine-protein kinase Fyn
P06241	424	468	271	524	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	424	468	271	524	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P06241	424	468	435	438	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	424	468	435	438	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	424	468	445	460	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	424	468	445	460	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	424	468	445	445	Natural variant	ID=VAR_014661;Note=I->F;Dbxref=dbSNP:rs1801121
P06241	424	468	445	445	Natural variant	ID=VAR_014661;Note=I->F;Dbxref=dbSNP:rs1801121
P06241	424	468	437	437	Sequence conflict	Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06241	424	468	437	437	Sequence conflict	Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06241	424	468	437	437	Sequence conflict	Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06241	424	468	437	437	Sequence conflict	Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06241	424	468	430	432	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7
P06241	424	468	430	432	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2DQ7

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

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
Mayo	ENST00000354650	111780566	111780635	hsa-miR-6747-3p	chr6:111780622-111780629	8mer-1a	chr6:111780613-111780632	181.00	-30.81
Mayo	ENST00000354650	111846589	111846629	hsa-miR-3185	chr6:111846616-111846623	8mer-1a	chr6:111846600-111846624	146.00	-21.22
Mayo	ENST00000354650	111780566	111780635	hsa-miR-142-5p	chr6:111780590-111780597	8mer-1a	chr6:111780578-111780597	152.00	-8.10
Mayo	ENST00000354650	111780566	111780635	hsa-miR-5590-3p	chr6:111780590-111780597	8mer-1a	chr6:111780578-111780597	152.00	-8.10
Mayo	ENST00000354650	111780566	111780635	hsa-miR-561-3p	chr6:111780588-111780595	8mer-1a	chr6:111780574-111780595	166.00	-10.70
MSBB	ENST00000354650	111846589	111846629	hsa-miR-3185	chr6:111846616-111846623	8mer-1a	chr6:111846600-111846624	146.00	-21.22
ROSMAP	ENST00000354650	111780566	111780635	hsa-miR-6747-3p	chr6:111780622-111780629	8mer-1a	chr6:111780613-111780632	181.00	-30.81
ROSMAP	ENST00000354650	111846589	111846629	hsa-miR-3185	chr6:111846616-111846623	8mer-1a	chr6:111846600-111846624	146.00	-21.22
ROSMAP	ENST00000354650	111780566	111780635	hsa-miR-142-5p	chr6:111780590-111780597	8mer-1a	chr6:111780578-111780597	152.00	-8.10
ROSMAP	ENST00000354650	111780566	111780635	hsa-miR-5590-3p	chr6:111780590-111780597	8mer-1a	chr6:111780578-111780597	152.00	-8.10
ROSMAP	ENST00000354650	111780566	111780635	hsa-miR-561-3p	chr6:111780588-111780595	8mer-1a	chr6:111780574-111780595	166.00	-10.70

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SNVs in the skipped exons for FYN

- 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 FYN

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 FYN

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 FYN

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	U2AF2	exon_skip_126178	-5.718398e-01	3.465087e-15
CB	TRA2A	exon_skip_126178	-5.335442e-01	4.449359e-13
CB	FUBP1	exon_skip_126178	-4.162693e-01	4.834749e-08
CB	HNRNPC	exon_skip_126178	-4.608419e-01	9.799694e-10
TC	RBM3	exon_skip_214726	-4.238368e-01	1.200616e-07
TC	PCBP4	exon_skip_27308	4.021756e-01	5.322756e-07

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RelatedDrugs for FYN

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

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
P06241	approved\|investigational	DB01254	Dasatinib	small molecule	P06241
P06241	approved\|investigational	DB12010	Fostamatinib	small molecule	P06241

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RelatedDiseases for FYN

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 FYN

Gene structures and expression levels for FYN

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

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

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

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

SNVs in the skipped exons for FYN

AD stage-associated exon skippint events for FYN

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

Correlation with RNA binding proteins (RBPs) for FYN

RelatedDrugs for FYN

RelatedDiseases for FYN