ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for SH3YL1

Gene summary

Gene information	Gene symbol	SH3YL1
	Gene ID	26751
	Gene name	SH3 and SYLF domain containing 1
	Synonyms	RAY
	Cytomap	2p25.3
	Type of gene	protein-coding
	Description	SH3 domain-containing YSC84-like protein 1SH3 domain containing, Ysc84-like 1
	Modification date	20200313
	UniProtAcc	C9J4Z8, C9JJI3, F5GYQ6, H7C1B8, H7C499, Q96HL8, S4R3I7,
	Context

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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Gene structures and expression levels for SH3YL1

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.

ENSG00000035115

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
CB	UP	ENST00000451005.5	SH3YL1-209:protein_coding:SH3YL1	1.080756e+01	8.734605e-01	3.374311e-04	2.068646e-03
CB	DOWN	ENST00000626873.2	SH3YL1-229:protein_coding:SH3YL1	9.177298e+00	-2.207413e+00	6.664700e-03	2.490927e-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 SH3YL1

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_108781	chr2	234160:234272:243503:243562:247538:247601	243503:243562
exon_skip_131061	chr2	242798:242871:243503:243562:247538:247602	243503:243562
exon_skip_13187	chr2	218797:219001:224864:224920:229966:230044	224864:224920
exon_skip_144074	chr2	253005:253115:262631:262786:263211:263983	262631:262786
exon_skip_145610	chr2	234160:234272:242798:242871:243503:243562	242798:242871
exon_skip_159978	chr2	234160:234272:242798:242871:247538:247601	242798:242871
exon_skip_161508	chr2	253005:253115:262631:262750:263211:263368	262631:262750
exon_skip_170507	chr2	253005:253115:256207:256690:260085:260702	256207:256690
exon_skip_19485	chr2	247538:247602:249731:249844:253005:253041	249731:249844
exon_skip_198174	chr2	262631:262786:263211:263372:264782:264810	263211:263372
exon_skip_210145	chr2	234160:234272:243503:243562:247538:247602	243503:243562
exon_skip_215315	chr2	234160:234272:242798:242871:247538:247602	242798:242871
exon_skip_227059	chr2	253005:253115:260085:260702:262631:262750	260085:260702
exon_skip_268248	chr2	231137:231191:233101:233229:234160:234231	233101:233229
exon_skip_283898	chr2	262631:262786:263211:263368:264782:264810	263211:263368
exon_skip_28586	chr2	253005:253115:262631:262750:263211:263983	262631:262750
exon_skip_4653	chr2	253005:253115:262631:262786:264782:264810	262631:262786
exon_skip_46808	chr2	253005:253115:256207:256690:260085:261323	256207:256690
exon_skip_57228	chr2	263211:263372:263564:263762:264782:264810	263564:263762
exon_skip_59869	chr2	242798:242871:243503:243562:247538:247601	243503:243562
exon_skip_61870	chr2	253005:253115:262631:262786:263211:263368	262631:262786

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
exon_skip_170507	Mayo_CB	3.060976e-01	1.808219e-01	1.252756e-01	4.327421e-04

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Open reading frame (ORF) annotation in the exon skipping event for SH3YL1

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
ENST00000405430	262631	262750	3UTR-3CDS
ENST00000356150	224864	224920	In-frame
ENST00000405430	224864	224920	In-frame
ENST00000356150	233101	233229	In-frame
ENST00000405430	233101	233229	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
ENST00000405430	262631	262750	3UTR-3CDS
ENST00000356150	224864	224920	In-frame
ENST00000405430	224864	224920	In-frame
ENST00000356150	233101	233229	In-frame
ENST00000405430	233101	233229	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
ENST00000405430	262631	262750	3UTR-3CDS
ENST00000356150	224864	224920	In-frame
ENST00000405430	224864	224920	In-frame
ENST00000356150	233101	233229	In-frame
ENST00000405430	233101	233229	In-frame
ENST00000356150	249731	249844	In-frame
ENST00000405430	249731	249844	In-frame

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Infer the effects of exon skipping event on protein functional features for SH3YL1

p-ENSG00000035115_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
ENST00000356150	1780	342	233101	233229	486	613	135	177
ENST00000405430	2081	342	233101	233229	782	909	135	177
ENST00000356150	1780	342	224864	224920	863	918	260	279
ENST00000405430	2081	342	224864	224920	1159	1214	260	279

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
ENST00000356150	1780	342	233101	233229	486	613	135	177
ENST00000405430	2081	342	233101	233229	782	909	135	177
ENST00000356150	1780	342	224864	224920	863	918	260	279
ENST00000405430	2081	342	224864	224920	1159	1214	260	279

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
ENST00000356150	1780	342	249731	249844	194	306	37	75
ENST00000405430	2081	342	249731	249844	490	602	37	75
ENST00000356150	1780	342	233101	233229	486	613	135	177
ENST00000405430	2081	342	233101	233229	782	909	135	177
ENST00000356150	1780	342	224864	224920	863	918	260	279
ENST00000405430	2081	342	224864	224920	1159	1214	260	279

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
Q96HL8	135	177	98	342	Alternative sequence	ID=VSP_034334;Note=In isoform 5. VSDLVIILNYDRAVEAFAKGGNLTLGGNLTVAVGPLGRNLEGNVALRSSAAVFTYCKSRGLFAGVSLEGSCLIERKETNRKFYCQDIRAYDILFGDTPRPAQAEDLYEILDSFTEKYENEGQRINARKAAREQRKSSAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPGDLNFQAGDRITVISKTDSH
Q96HL8	135	177	98	342	Alternative sequence	ID=VSP_034334;Note=In isoform 5. VSDLVIILNYDRAVEAFAKGGNLTLGGNLTVAVGPLGRNLEGNVALRSSAAVFTYCKSRGLFAGVSLEGSCLIERKETNRKFYCQDIRAYDILFGDTPRPAQAEDLYEILDSFTEKYENEGQRINARKAAREQRKSSAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPGDLNFQAGDRITVISKTDSH
Q96HL8	135	177	1	342	Chain	ID=PRO_0000341560;Note=SH3 domain-containing YSC84-like protein 1
Q96HL8	135	177	1	342	Chain	ID=PRO_0000341560;Note=SH3 domain-containing YSC84-like protein 1
Q96HL8	135	177	141	141	Sequence conflict	Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96HL8	135	177	141	141	Sequence conflict	Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96HL8	260	279	98	342	Alternative sequence	ID=VSP_034334;Note=In isoform 5. VSDLVIILNYDRAVEAFAKGGNLTLGGNLTVAVGPLGRNLEGNVALRSSAAVFTYCKSRGLFAGVSLEGSCLIERKETNRKFYCQDIRAYDILFGDTPRPAQAEDLYEILDSFTEKYENEGQRINARKAAREQRKSSAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPGDLNFQAGDRITVISKTDSH
Q96HL8	260	279	98	342	Alternative sequence	ID=VSP_034334;Note=In isoform 5. VSDLVIILNYDRAVEAFAKGGNLTLGGNLTVAVGPLGRNLEGNVALRSSAAVFTYCKSRGLFAGVSLEGSCLIERKETNRKFYCQDIRAYDILFGDTPRPAQAEDLYEILDSFTEKYENEGQRINARKAAREQRKSSAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPGDLNFQAGDRITVISKTDSH
Q96HL8	260	279	262	280	Alternative sequence	ID=VSP_034335;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.2;Dbxref=PMID:14702039,PMID:15489334
Q96HL8	260	279	262	280	Alternative sequence	ID=VSP_034335;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.2;Dbxref=PMID:14702039,PMID:15489334
Q96HL8	260	279	1	342	Chain	ID=PRO_0000341560;Note=SH3 domain-containing YSC84-like protein 1
Q96HL8	260	279	1	342	Chain	ID=PRO_0000341560;Note=SH3 domain-containing YSC84-like protein 1

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
Q96HL8	135	177	98	342	Alternative sequence	ID=VSP_034334;Note=In isoform 5. VSDLVIILNYDRAVEAFAKGGNLTLGGNLTVAVGPLGRNLEGNVALRSSAAVFTYCKSRGLFAGVSLEGSCLIERKETNRKFYCQDIRAYDILFGDTPRPAQAEDLYEILDSFTEKYENEGQRINARKAAREQRKSSAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPGDLNFQAGDRITVISKTDSH
Q96HL8	135	177	98	342	Alternative sequence	ID=VSP_034334;Note=In isoform 5. VSDLVIILNYDRAVEAFAKGGNLTLGGNLTVAVGPLGRNLEGNVALRSSAAVFTYCKSRGLFAGVSLEGSCLIERKETNRKFYCQDIRAYDILFGDTPRPAQAEDLYEILDSFTEKYENEGQRINARKAAREQRKSSAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPGDLNFQAGDRITVISKTDSH
Q96HL8	135	177	1	342	Chain	ID=PRO_0000341560;Note=SH3 domain-containing YSC84-like protein 1
Q96HL8	135	177	1	342	Chain	ID=PRO_0000341560;Note=SH3 domain-containing YSC84-like protein 1
Q96HL8	135	177	141	141	Sequence conflict	Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96HL8	135	177	141	141	Sequence conflict	Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96HL8	260	279	98	342	Alternative sequence	ID=VSP_034334;Note=In isoform 5. VSDLVIILNYDRAVEAFAKGGNLTLGGNLTVAVGPLGRNLEGNVALRSSAAVFTYCKSRGLFAGVSLEGSCLIERKETNRKFYCQDIRAYDILFGDTPRPAQAEDLYEILDSFTEKYENEGQRINARKAAREQRKSSAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPGDLNFQAGDRITVISKTDSH
Q96HL8	260	279	98	342	Alternative sequence	ID=VSP_034334;Note=In isoform 5. VSDLVIILNYDRAVEAFAKGGNLTLGGNLTVAVGPLGRNLEGNVALRSSAAVFTYCKSRGLFAGVSLEGSCLIERKETNRKFYCQDIRAYDILFGDTPRPAQAEDLYEILDSFTEKYENEGQRINARKAAREQRKSSAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPGDLNFQAGDRITVISKTDSH
Q96HL8	260	279	262	280	Alternative sequence	ID=VSP_034335;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.2;Dbxref=PMID:14702039,PMID:15489334
Q96HL8	260	279	262	280	Alternative sequence	ID=VSP_034335;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.2;Dbxref=PMID:14702039,PMID:15489334
Q96HL8	260	279	1	342	Chain	ID=PRO_0000341560;Note=SH3 domain-containing YSC84-like protein 1
Q96HL8	260	279	1	342	Chain	ID=PRO_0000341560;Note=SH3 domain-containing YSC84-like protein 1

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
Q96HL8	37	75	1	96	Alternative sequence	ID=VSP_034332;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005;Dbxref=PMID:14702039,PMID:17974005
Q96HL8	37	75	1	96	Alternative sequence	ID=VSP_034332;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005;Dbxref=PMID:14702039,PMID:17974005
Q96HL8	37	75	1	342	Chain	ID=PRO_0000341560;Note=SH3 domain-containing YSC84-like protein 1
Q96HL8	37	75	1	342	Chain	ID=PRO_0000341560;Note=SH3 domain-containing YSC84-like protein 1
Q96HL8	135	177	98	342	Alternative sequence	ID=VSP_034334;Note=In isoform 5. VSDLVIILNYDRAVEAFAKGGNLTLGGNLTVAVGPLGRNLEGNVALRSSAAVFTYCKSRGLFAGVSLEGSCLIERKETNRKFYCQDIRAYDILFGDTPRPAQAEDLYEILDSFTEKYENEGQRINARKAAREQRKSSAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPGDLNFQAGDRITVISKTDSH
Q96HL8	135	177	98	342	Alternative sequence	ID=VSP_034334;Note=In isoform 5. VSDLVIILNYDRAVEAFAKGGNLTLGGNLTVAVGPLGRNLEGNVALRSSAAVFTYCKSRGLFAGVSLEGSCLIERKETNRKFYCQDIRAYDILFGDTPRPAQAEDLYEILDSFTEKYENEGQRINARKAAREQRKSSAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPGDLNFQAGDRITVISKTDSH
Q96HL8	135	177	1	342	Chain	ID=PRO_0000341560;Note=SH3 domain-containing YSC84-like protein 1
Q96HL8	135	177	1	342	Chain	ID=PRO_0000341560;Note=SH3 domain-containing YSC84-like protein 1
Q96HL8	135	177	141	141	Sequence conflict	Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96HL8	135	177	141	141	Sequence conflict	Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96HL8	260	279	98	342	Alternative sequence	ID=VSP_034334;Note=In isoform 5. VSDLVIILNYDRAVEAFAKGGNLTLGGNLTVAVGPLGRNLEGNVALRSSAAVFTYCKSRGLFAGVSLEGSCLIERKETNRKFYCQDIRAYDILFGDTPRPAQAEDLYEILDSFTEKYENEGQRINARKAAREQRKSSAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPGDLNFQAGDRITVISKTDSH
Q96HL8	260	279	98	342	Alternative sequence	ID=VSP_034334;Note=In isoform 5. VSDLVIILNYDRAVEAFAKGGNLTLGGNLTVAVGPLGRNLEGNVALRSSAAVFTYCKSRGLFAGVSLEGSCLIERKETNRKFYCQDIRAYDILFGDTPRPAQAEDLYEILDSFTEKYENEGQRINARKAAREQRKSSAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPGDLNFQAGDRITVISKTDSH
Q96HL8	260	279	262	280	Alternative sequence	ID=VSP_034335;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.2;Dbxref=PMID:14702039,PMID:15489334
Q96HL8	260	279	262	280	Alternative sequence	ID=VSP_034335;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.2;Dbxref=PMID:14702039,PMID:15489334
Q96HL8	260	279	1	342	Chain	ID=PRO_0000341560;Note=SH3 domain-containing YSC84-like protein 1
Q96HL8	260	279	1	342	Chain	ID=PRO_0000341560;Note=SH3 domain-containing YSC84-like protein 1

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3'-UTR located exon skipping events that lost miRNA binding sites in SH3YL1

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 SH3YL1

- 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 SH3YL1

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 SH3YL1

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
CB	exon_skip_13187	rs3791220	chr2:227066	1.591900e-15	4.531806e-12
CB	exon_skip_13187	rs7605824	chr2:280819	2.104753e-15	5.750185e-12
CB	exon_skip_13187	rs6721594	chr2:305203	5.986466e-11	6.438168e-08
TC	exon_skip_13187	rs3791220	chr2:227066	2.649679e-25	2.782079e-21
TC	exon_skip_13187	rs7605824	chr2:280819	8.854849e-22	6.778371e-18
TC	exon_skip_13187	rs6721594	chr2:305203	3.464023e-14	7.430665e-11
TC	exon_skip_13187	rs366330	chr2:178356	2.803853e-07	1.084015e-04
TC	exon_skip_13187	rs12623893	chr2:131700	4.274720e-07	1.582154e-04
TC	exon_skip_13187	rs7609512	chr2:251673	4.485919e-06	1.275431e-03
TC	exon_skip_13187	rs6708541	chr2:282736	4.485919e-06	1.275431e-03
TC	exon_skip_13187	rs10205435	chr2:230442	8.489811e-06	2.164659e-03
TC	exon_skip_13187	rs300705	chr2:240785	3.321123e-05	6.678872e-03
HCC	exon_skip_13187	rs3791220	chr2:227066	7.512243e-27	2.562702e-23
HCC	exon_skip_13187	rs17713396	chr2:227201	7.512243e-27	2.562702e-23
HCC	exon_skip_13187	rs17713729	chr2:249092	9.500387e-27	3.182535e-23
HCC	exon_skip_13187	rs7605824	chr2:280819	9.500387e-27	3.182535e-23
HCC	exon_skip_13187	rs6721594	chr2:305203	4.134445e-18	4.387427e-15
HCC	exon_skip_13187	rs12623893	chr2:131700	4.763146e-10	1.511198e-07
HCC	exon_skip_13187	rs4854302	chr2:305803	1.361845e-09	3.971663e-07
HCC	exon_skip_13187	rs10495480	chr2:170616	1.520071e-09	4.395191e-07
HCC	exon_skip_13187	rs6548222	chr2:296812	2.021891e-09	5.699910e-07
HCC	exon_skip_13187	rs366330	chr2:178356	1.067278e-07	2.122221e-05
HCC	exon_skip_13187	rs4255987	chr2:259296	2.264264e-07	4.232990e-05
HCC	exon_skip_13187	rs10188763	chr2:260677	2.264264e-07	4.232990e-05
HCC	exon_skip_13187	rs11127466	chr2:278752	2.264264e-07	4.232990e-05
HCC	exon_skip_13187	rs1474052	chr2:224192	3.038246e-07	5.524393e-05
HCC	exon_skip_13187	rs9808365	chr2:232343	3.038246e-07	5.524393e-05
HCC	exon_skip_13187	rs3748872	chr2:234130	3.038246e-07	5.524393e-05
HCC	exon_skip_13187	rs2085852	chr2:240630	3.038246e-07	5.524393e-05
HCC	exon_skip_13187	rs381726	chr2:151464	1.271740e-06	2.024327e-04
HCC	exon_skip_13187	rs300731	chr2:165674	3.999213e-06	5.613679e-04
HCC	exon_skip_13187	rs11692330	chr2:210076	8.445908e-06	1.087061e-03
HCC	exon_skip_13187	rs13003862	chr2:162658	1.459176e-05	1.750818e-03
HCC	exon_skip_13187	rs10196255	chr2:132364	4.424549e-05	4.536035e-03
HCC	exon_skip_13187	rs7558758	chr2:172101	6.032947e-05	5.936187e-03
HCC	exon_skip_13187	rs10205435	chr2:230442	3.549655e-04	2.580955e-02
HCC	exon_skip_13187	rs1474053	chr2:224086	4.968215e-04	3.371116e-02
PCC	exon_skip_13187	rs3791220	chr2:227066	2.268295e-18	8.902147e-15
PCC	exon_skip_13187	rs17713396	chr2:227201	2.268295e-18	8.902147e-15
PCC	exon_skip_13187	rs17713729	chr2:249092	2.268295e-18	8.902147e-15
PCC	exon_skip_13187	rs7605824	chr2:280819	2.268295e-18	8.902147e-15
PCC	exon_skip_13187	rs6721594	chr2:305203	7.239149e-14	1.564389e-10
PCC	exon_skip_13187	rs10495480	chr2:170616	1.120343e-06	3.787426e-04
PCC	exon_skip_13187	rs12623893	chr2:131700	1.502132e-06	4.870732e-04
PCC	exon_skip_13187	rs6548222	chr2:296812	7.776732e-06	2.037826e-03
PCC	exon_skip_13187	rs4854302	chr2:305803	6.496867e-05	1.242044e-02
PCC	exon_skip_13187	rs366330	chr2:178356	3.441729e-04	4.544870e-02
DLPFC	exon_skip_13187	rs3791220	chr2:227066	8.405735e-41	5.616477e-37
DLPFC	exon_skip_13187	rs17713396	chr2:227201	8.405735e-41	5.616477e-37
DLPFC	exon_skip_13187	rs17713729	chr2:249092	3.278664e-40	2.028436e-36
DLPFC	exon_skip_13187	rs7605824	chr2:280819	3.278664e-40	2.028436e-36
DLPFC	exon_skip_13187	rs6721594	chr2:305203	1.282880e-28	3.246912e-25
DLPFC	exon_skip_13187	rs4854302	chr2:305803	1.172858e-10	3.782196e-08
DLPFC	exon_skip_13187	rs6548222	chr2:296812	2.406851e-10	7.336637e-08
DLPFC	exon_skip_13187	rs12623893	chr2:131700	7.699103e-10	2.172435e-07
DLPFC	exon_skip_13187	rs10495480	chr2:170616	1.270505e-09	3.439691e-07
DLPFC	exon_skip_13187	rs366330	chr2:178356	3.142234e-09	7.940820e-07
DLPFC	exon_skip_13187	rs1474052	chr2:224192	2.788629e-08	5.964417e-06
DLPFC	exon_skip_13187	rs9808365	chr2:232343	2.788629e-08	5.964417e-06
DLPFC	exon_skip_13187	rs3748872	chr2:234130	2.788629e-08	5.964417e-06
DLPFC	exon_skip_13187	rs2085852	chr2:240630	2.788629e-08	5.964417e-06
DLPFC	exon_skip_13187	rs4255987	chr2:259296	3.255022e-08	6.847968e-06
DLPFC	exon_skip_13187	rs10188763	chr2:260677	3.255022e-08	6.847968e-06
DLPFC	exon_skip_13187	rs11127466	chr2:278752	3.255022e-08	6.847968e-06
DLPFC	exon_skip_13187	rs1474053	chr2:224086	1.591636e-07	2.807515e-05
DLPFC	exon_skip_13187	rs10205435	chr2:230442	1.591636e-07	2.807515e-05
DLPFC	exon_skip_13187	rs11692330	chr2:210076	7.660200e-07	1.164316e-04
DLPFC	exon_skip_13187	rs13003862	chr2:162658	2.013660e-06	2.712643e-04
DLPFC	exon_skip_13187	rs10196255	chr2:132364	8.199670e-06	9.439680e-04
DLPFC	exon_skip_13187	rs7609512	chr2:251673	9.061589e-06	1.036054e-03
DLPFC	exon_skip_13187	rs381726	chr2:151464	9.377550e-06	1.067731e-03
DLPFC	exon_skip_13187	rs300731	chr2:165674	1.626881e-05	1.726551e-03
DLPFC	exon_skip_13187	rs7558758	chr2:172101	4.410372e-05	4.155227e-03
DLPFC	exon_skip_13187	rs12714404	chr2:282462	7.265950e-05	6.404887e-03
DLPFC	exon_skip_13187	rs6708541	chr2:282736	7.265950e-05	6.404887e-03
DLPFC	exon_skip_13187	rs10199876	chr2:283794	7.265950e-05	6.404887e-03
DLPFC	exon_skip_13187	rs12714396	chr2:130357	8.556353e-05	7.380761e-03
DLPFC	exon_skip_13187	rs6548221	chr2:295255	9.462019e-05	8.062140e-03
DLPFC	exon_skip_13187	rs300705	chr2:240785	1.193861e-04	9.819106e-03

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Correlation with RNA binding proteins (RBPs) for SH3YL1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	HNRNPAB	exon_skip_268248	-4.300313e-01	1.539631e-08
CB	TARDBP	exon_skip_170507	4.302030e-01	2.312869e-08
CB	ELAVL1	exon_skip_170507	4.274911e-01	2.893491e-08
CB	ZNF638	exon_skip_170507	5.593654e-01	3.870491e-14
CB	RBM6	exon_skip_170507	4.544916e-01	2.843835e-09
CB	SAMD4A	exon_skip_170507	5.104375e-01	1.161465e-11
CB	U2AF2	exon_skip_170507	6.040498e-01	8.744406e-17
CB	CNOT4	exon_skip_170507	5.304039e-01	1.264668e-12
CB	RBM3	exon_skip_170507	-4.921226e-01	7.853091e-11
CB	PCBP1	exon_skip_170507	4.006362e-01	2.397449e-07
CB	TRA2A	exon_skip_170507	5.521664e-01	9.502655e-14
CB	FUBP1	exon_skip_170507	4.646773e-01	1.123173e-09
CB	HNRNPC	exon_skip_170507	4.913865e-01	8.460315e-11
CB	EIF4G2	exon_skip_170507	4.119922e-01	1.002764e-07
CB	RBM23	exon_skip_170507	4.644245e-01	1.149799e-09
CB	SRSF4	exon_skip_170507	4.000716e-01	2.501530e-07
TC	RBM3	exon_skip_170507	-4.777820e-01	4.234251e-10

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RelatedDrugs for SH3YL1

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 SH3YL1

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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