ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for BCAS1

Gene summary

Gene information	Gene symbol	BCAS1
	Gene ID	8537
	Gene name	brain enriched myelin associated protein 1
	Synonyms	AIBC1\|NABC1\|PMES-2
	Cytomap	20q13.2
	Type of gene	protein-coding
	Description	breast carcinoma-amplified sequence 1amplified and overexpressed in breast cancerbreast carcinoma amplified sequence 1novel amplified in breast cancer 1protein having mRNA enriched in synaptosomes 2
	Modification date	20200313
	UniProtAcc	A0AVG7, G3XAF7, H0Y542, H7C1E7, O75363, Q05CL3,
	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 BCAS1

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.

ENSG00000064787

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

***cutpoints = c(0, 0.0001, 0.001, 0.01, 1), symbols = c("****", "***", "**", "ns")

Tissue type	DEG direction	Base mean exp.	log2FC(AD/control)	P-value	Adj. p-value
TC	DOWN	2.042775e+04	-9.859924e-01	2.514558e-09	1.398197e-07

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	DOWN	ENST00000395961.7	BCAS1-202:protein_coding:BCAS1	5.244699e+02	-8.966982e-01	1.431813e-07	2.877025e-06
CB	DOWN	ENST00000371435.6	BCAS1-201:protein_coding:BCAS1	2.905492e+03	-8.985213e-01	6.790189e-07	1.079219e-05
CB	DOWN	ENST00000448484.5	BCAS1-204:protein_coding:BCAS1	7.964779e+02	-8.308633e-01	1.817773e-06	2.493606e-05
CB	DOWN	ENST00000422805.1	BCAS1-203:protein_coding:BCAS1	1.623602e+01	-8.234632e-01	7.449930e-03	2.731537e-02
TC	DOWN	ENST00000395961.7	BCAS1-202:protein_coding:BCAS1	2.729183e+03	-1.012667e+00	2.916572e-10	4.742221e-08
TC	DOWN	ENST00000371435.6	BCAS1-201:protein_coding:BCAS1	1.298461e+04	-1.007476e+00	2.533644e-09	2.828879e-07
TC	DOWN	ENST00000448484.5	BCAS1-204:protein_coding:BCAS1	4.006039e+03	-8.427478e-01	1.324452e-07	7.706695e-06

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 BCAS1

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_11059	chr20	53953432:53953695:53966906:53967073:53985287:53985433	53966906:53967073
exon_skip_146676	chr20	53967051:53967073:53975389:53975430:53985287:53985433	53975389:53975430
exon_skip_149788	chr20	53975389:53975430:53985287:53985499:53995012:53995056	53985287:53985499
exon_skip_158606	chr20	53957432:53957497:53966906:53967073:53975389:53975430	53966906:53967073
exon_skip_170719	chr20	53941422:53941524:53944926:53944996:53953432:53953695	53944926:53944996
exon_skip_193299	chr20	53966906:53967073:53975389:53975430:53985287:53985433	53975389:53975430
exon_skip_208961	chr20	53953630:53953695:53957432:53957497:53975389:53975430	53957432:53957497
exon_skip_217802	chr20	53944926:53944996:53953432:53953695:53975389:53975430	53953432:53953695
exon_skip_218516	chr20	53953630:53953695:53966906:53967073:53985287:53985499	53966906:53967073
exon_skip_227698	chr20	53953678:53953695:53957432:53957497:53966906:53967073	53957432:53957497
exon_skip_230442	chr20	53992512:53992646:53995012:53995056:53995892:53995929	53995012:53995056
exon_skip_245923	chr20	53985439:53985499:53992512:53992646:53995012:53995056	53992512:53992646
exon_skip_249883	chr20	53953432:53953695:53975389:53975430:53985287:53985433	53975389:53975430
exon_skip_254541	chr20	53944926:53944996:53953432:53953695:53966906:53967073	53953432:53953695
exon_skip_266478	chr20	53966906:53967073:53985287:53985499:53992512:53992548	53985287:53985499
exon_skip_287649	chr20	53953678:53953695:53966906:53967073:53985287:53985433	53966906:53967073
exon_skip_295539	chr20	53953630:53953695:53975389:53975430:53985287:53985499	53975389:53975430
exon_skip_32232	chr20	53936777:53941524:53944926:53944996:53953432:53953695	53944926:53944996
exon_skip_43853	chr20	53953678:53953695:53957432:53957497:53975389:53975430	53957432:53957497
exon_skip_44507	chr20	53953630:53953695:53957432:53957497:53966906:53967073	53957432:53957497
exon_skip_44923	chr20	53953678:53953695:53975389:53975430:53985287:53985433	53975389:53975430
exon_skip_52992	chr20	53957432:53957497:53975389:53975430:53985287:53985409	53975389:53975430
exon_skip_63026	chr20	53953432:53953695:53957432:53957497:53966906:53967073	53957432:53957497
exon_skip_67395	chr20	53957432:53957497:53975389:53975430:53985287:53985433	53975389:53975430
exon_skip_72945	chr20	53985287:53985499:53992512:53992646:53995012:53995056	53992512:53992646
exon_skip_78612	chr20	53953432:53953695:53957432:53957497:53975389:53975430	53957432:53957497

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 BCAS1

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
ENST00000395961	53957432	53957497	In-frame
ENST00000395961	53966906	53967073	In-frame
ENST00000395961	53975389	53975430	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
ENST00000395961	53957432	53957497	In-frame
ENST00000395961	53966906	53967073	In-frame
ENST00000395961	53975389	53975430	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
ENST00000395961	53957432	53957497	In-frame
ENST00000395961	53966906	53967073	In-frame
ENST00000395961	53975389	53975430	In-frame
ENST00000395961	53985287	53985499	In-frame

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Infer the effects of exon skipping event on protein functional features for BCAS1

p-ENSG00000064787_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
ENST00000395961	3320	584	53975389	53975430	1308	1348	380	393
ENST00000395961	3320	584	53966906	53967073	1350	1516	394	449
ENST00000395961	3320	584	53957432	53957497	1518	1582	450	471

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
ENST00000395961	3320	584	53975389	53975430	1308	1348	380	393
ENST00000395961	3320	584	53966906	53967073	1350	1516	394	449
ENST00000395961	3320	584	53957432	53957497	1518	1582	450	471

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
ENST00000395961	3320	584	53985287	53985499	1095	1306	309	379
ENST00000395961	3320	584	53975389	53975430	1308	1348	380	393
ENST00000395961	3320	584	53966906	53967073	1350	1516	394	449
ENST00000395961	3320	584	53957432	53957497	1518	1582	450	471

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
O75363	380	393	381	394	Alternative sequence	ID=VSP_018521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10857754,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10857754,PMID:17974005
O75363	380	393	1	584	Chain	ID=PRO_0000064859;Note=Breast carcinoma-amplified sequence 1
O75363	380	393	381	381	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q80YN3
O75363	394	449	381	394	Alternative sequence	ID=VSP_018521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10857754,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10857754,PMID:17974005
O75363	394	449	1	584	Chain	ID=PRO_0000064859;Note=Breast carcinoma-amplified sequence 1
O75363	394	449	399	399	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q80YN3
O75363	450	471	451	472	Alternative sequence	ID=VSP_018522;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10857754,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10857754,PMID:17974005
O75363	450	471	1	584	Chain	ID=PRO_0000064859;Note=Breast carcinoma-amplified sequence 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
O75363	380	393	381	394	Alternative sequence	ID=VSP_018521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10857754,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10857754,PMID:17974005
O75363	380	393	1	584	Chain	ID=PRO_0000064859;Note=Breast carcinoma-amplified sequence 1
O75363	380	393	381	381	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q80YN3
O75363	394	449	381	394	Alternative sequence	ID=VSP_018521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10857754,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10857754,PMID:17974005
O75363	394	449	1	584	Chain	ID=PRO_0000064859;Note=Breast carcinoma-amplified sequence 1
O75363	394	449	399	399	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q80YN3
O75363	450	471	451	472	Alternative sequence	ID=VSP_018522;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10857754,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10857754,PMID:17974005
O75363	450	471	1	584	Chain	ID=PRO_0000064859;Note=Breast carcinoma-amplified sequence 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
O75363	309	379	309	309	Alternative sequence	ID=VSP_018520;Note=In isoform 2. T->TASKAESVCDGQAGQKTSEIQARGTKKKHLDSPRLGLAFRKFFRHK;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10857754,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10857754,PMID:17974005
O75363	309	379	1	584	Chain	ID=PRO_0000064859;Note=Breast carcinoma-amplified sequence 1
O75363	309	379	314	314	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q3ZB98
O75363	309	379	361	361	Sequence conflict	Note=G->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
O75363	380	393	381	394	Alternative sequence	ID=VSP_018521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10857754,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10857754,PMID:17974005
O75363	380	393	1	584	Chain	ID=PRO_0000064859;Note=Breast carcinoma-amplified sequence 1
O75363	380	393	381	381	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q80YN3
O75363	394	449	381	394	Alternative sequence	ID=VSP_018521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10857754,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10857754,PMID:17974005
O75363	394	449	1	584	Chain	ID=PRO_0000064859;Note=Breast carcinoma-amplified sequence 1
O75363	394	449	399	399	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q80YN3
O75363	450	471	451	472	Alternative sequence	ID=VSP_018522;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10857754,ECO:0000303\|PubMed:17974005;Dbxref=PMID:10857754,PMID:17974005
O75363	450	471	1	584	Chain	ID=PRO_0000064859;Note=Breast carcinoma-amplified sequence 1

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3'-UTR located exon skipping events that lost miRNA binding sites in BCAS1

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 BCAS1

- 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 BCAS1

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 BCAS1

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
CB	exon_skip_249883	rs6091794	chr20:53958507	8.025196e-05	1.454617e-02
TC	exon_skip_44923	rs6091794	chr20:53958507	4.674570e-10	4.019607e-07
TC	exon_skip_146676	rs6091794	chr20:53958507	6.798544e-08	3.154113e-05
TC	exon_skip_146676	rs11086446	chr20:53951007	1.681934e-05	3.787086e-03
TC	exon_skip_227698	rs10485441	chr20:53947829	3.610072e-05	7.164334e-03
TC	exon_skip_44923	rs10485441	chr20:53947829	3.802220e-05	7.478930e-03
TC	exon_skip_227698	rs6091794	chr20:53958507	6.871385e-05	1.214172e-02
TC	exon_skip_44923	rs11086446	chr20:53951007	1.028701e-04	1.671170e-02
TC	exon_skip_52992	rs6091794	chr20:53958507	1.101228e-04	1.756102e-02
TC	exon_skip_43853	rs6091794	chr20:53958507	1.629714e-04	2.392869e-02
TC	exon_skip_146676	rs10485441	chr20:53947829	1.713682e-04	2.493577e-02
TC	exon_skip_245923	rs1476720	chr20:53911567	1.996470e-04	2.820707e-02
TC	exon_skip_52992	rs11086446	chr20:53951007	2.878174e-04	3.792460e-02
TC	exon_skip_44923	rs208379	chr20:53998815	3.394143e-04	4.315559e-02
HCC	exon_skip_193299	rs6091793	chr20:53958200	4.032745e-13	2.123983e-10
HCC	exon_skip_193299	rs6091794	chr20:53958507	4.032745e-13	2.123983e-10
HCC	exon_skip_193299	rs12480106	chr20:54000470	4.409290e-13	2.293071e-10
HCC	exon_skip_193299	rs2276510	chr20:53969742	2.156848e-12	9.950373e-10
HCC	exon_skip_193299	rs402992	chr20:53961068	4.046250e-11	1.516687e-08
HCC	exon_skip_249883	rs402992	chr20:53961068	3.833630e-09	1.021127e-06
HCC	exon_skip_249883	rs2276510	chr20:53969742	5.870537e-09	1.508566e-06
HCC	exon_skip_249883	rs6091793	chr20:53958200	6.137684e-09	1.570702e-06
HCC	exon_skip_249883	rs6091794	chr20:53958507	6.137684e-09	1.570702e-06
HCC	exon_skip_249883	rs12480106	chr20:54000470	1.022395e-08	2.502740e-06
HCC	exon_skip_249883	rs208379	chr20:53998815	4.945512e-06	6.770745e-04
HCC	exon_skip_193299	rs6097713	chr20:54000865	4.993975e-06	6.832062e-04
HCC	exon_skip_193299	rs10485441	chr20:53947829	5.594291e-06	7.567027e-04
HCC	exon_skip_193299	rs208379	chr20:53998815	1.768828e-05	2.078101e-03
HCC	exon_skip_249883	rs6097713	chr20:54000865	4.478235e-05	4.584754e-03
HCC	exon_skip_193299	rs4809946	chr20:53955322	2.393171e-04	1.882137e-02
PCC	exon_skip_249883	rs2276510	chr20:53969742	6.778237e-10	5.407386e-07
PCC	exon_skip_249883	rs402992	chr20:53961068	9.187825e-10	6.775575e-07
PCC	exon_skip_249883	rs208379	chr20:53998815	8.957132e-09	5.356082e-06
PCC	exon_skip_249883	rs12480106	chr20:54000470	1.073304e-08	6.362306e-06
PCC	exon_skip_193299	rs6091793	chr20:53958200	3.068929e-08	1.639836e-05
PCC	exon_skip_193299	rs6091794	chr20:53958507	3.068929e-08	1.639836e-05
PCC	exon_skip_249883	rs6091793	chr20:53958200	3.675732e-08	1.924911e-05
PCC	exon_skip_249883	rs6091794	chr20:53958507	3.675732e-08	1.924911e-05
PCC	exon_skip_193299	rs2276510	chr20:53969742	1.042722e-07	4.883771e-05
PCC	exon_skip_193299	rs402992	chr20:53961068	1.313572e-07	5.941578e-05
PCC	exon_skip_193299	rs12480106	chr20:54000470	7.210268e-07	2.607917e-04
PCC	exon_skip_193299	rs10485441	chr20:53947829	3.608640e-06	1.057626e-03
PCC	exon_skip_249883	rs10485441	chr20:53947829	1.053585e-05	2.662740e-03
PCC	exon_skip_63026	rs6097640	chr20:53863058	5.264763e-05	1.034888e-02
PCC	exon_skip_193299	rs208379	chr20:53998815	6.141822e-05	1.184782e-02
DLPFC	exon_skip_193299	rs12480106	chr20:54000470	9.095010e-12	3.508679e-09
DLPFC	exon_skip_193299	rs2276510	chr20:53969742	6.801698e-11	2.258799e-08
DLPFC	exon_skip_193299	rs6091793	chr20:53958200	2.815261e-10	8.519377e-08
DLPFC	exon_skip_193299	rs6091794	chr20:53958507	2.815261e-10	8.519377e-08
DLPFC	exon_skip_249883	rs12480106	chr20:54000470	4.007529e-10	1.186932e-07
DLPFC	exon_skip_193299	rs402992	chr20:53961068	1.222158e-09	3.319559e-07
DLPFC	exon_skip_249883	rs2276510	chr20:53969742	4.993369e-08	1.013496e-05
DLPFC	exon_skip_249883	rs6091793	chr20:53958200	8.174275e-08	1.569489e-05
DLPFC	exon_skip_249883	rs6091794	chr20:53958507	8.174275e-08	1.569489e-05
DLPFC	exon_skip_249883	rs402992	chr20:53961068	1.033259e-07	1.924178e-05
DLPFC	exon_skip_193299	rs208379	chr20:53998815	7.312044e-07	1.119547e-04
DLPFC	exon_skip_63026	rs402992	chr20:53961068	5.619520e-06	6.729043e-04
DLPFC	exon_skip_63026	rs2276510	chr20:53969742	6.057204e-06	7.211786e-04
DLPFC	exon_skip_63026	rs6091793	chr20:53958200	8.044252e-06	9.279945e-04
DLPFC	exon_skip_63026	rs6091794	chr20:53958507	8.044252e-06	9.279945e-04
DLPFC	exon_skip_249883	rs208379	chr20:53998815	1.193760e-05	1.319718e-03
DLPFC	exon_skip_63026	rs12480106	chr20:54000470	1.366483e-05	1.477421e-03
DLPFC	exon_skip_193299	rs8120953	chr20:53995333	1.730322e-05	1.817850e-03
DLPFC	exon_skip_193299	rs10485441	chr20:53947829	2.168498e-05	2.227752e-03
DLPFC	exon_skip_193299	rs6097713	chr20:54000865	4.894617e-05	4.547339e-03
DLPFC	exon_skip_249883	rs10485441	chr20:53947829	2.163605e-04	1.637585e-02
DLPFC	exon_skip_249883	rs6097713	chr20:54000865	3.212497e-04	2.275764e-02
DLPFC	exon_skip_63026	rs208379	chr20:53998815	3.228729e-04	2.285325e-02
DLPFC	exon_skip_193299	rs6013869	chr20:54003257	5.533611e-04	3.503984e-02

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Correlation with RNA binding proteins (RBPs) for BCAS1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	PABPN1	exon_skip_72945	-4.067681e-01	1.034444e-07
CB	SAMD4A	exon_skip_72945	-5.988899e-01	7.536075e-17
CB	FXR2	exon_skip_72945	-4.611130e-01	9.553171e-10
CB	TRA2A	exon_skip_72945	-5.115736e-01	5.532560e-12
CB	HNRNPAB	exon_skip_72945	-4.640928e-01	7.209768e-10
IFG	EWSR1	exon_skip_63026	4.178874e-01	2.691089e-02
IFG	ESRP1	exon_skip_63026	4.843348e-01	9.008112e-03
IFG	PABPN1	exon_skip_78612	4.967145e-01	8.399501e-03
IFG	RBM6	exon_skip_78612	4.181572e-01	2.996436e-02
IFG	RBM5	exon_skip_78612	5.734378e-01	1.766484e-03
IFG	TRA2A	exon_skip_78612	6.626936e-01	1.656184e-04
IFG	PCBP2	exon_skip_78612	6.614709e-01	1.719678e-04
IFG	SNRPA	exon_skip_78612	4.658206e-01	1.433316e-02
IFG	EWSR1	exon_skip_78612	4.092928e-01	3.400746e-02
IFG	SRSF9	exon_skip_78612	4.964076e-01	8.446233e-03
IFG	NOVA1	exon_skip_78612	4.416084e-01	2.110647e-02
IFG	TARDBP	exon_skip_76678	4.325401e-01	2.151276e-02
IFG	PABPC1	exon_skip_76678	4.666795e-01	1.229848e-02
IFG	SRSF2	exon_skip_11059	-5.048389e-01	6.146683e-03
IFG	RBM3	exon_skip_11059	-4.066834e-01	3.174060e-02
IFG	ILF2	exon_skip_11059	-4.976703e-01	7.043862e-03
IFG	ESRP1	exon_skip_193299	5.014451e-01	6.558567e-03
STG	RBM24	exon_skip_41323	-4.004294e-01	1.107653e-04
TC	SAMD4A	exon_skip_245923	-4.777733e-01	1.674345e-10

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RelatedDrugs for BCAS1

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 BCAS1

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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