ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for BAZ2B

Gene summary

Gene information	Gene symbol	BAZ2B
	Gene ID	29994
	Gene name	bromodomain adjacent to zinc finger domain 2B
	Synonyms	WALp4
	Cytomap	2q24.2
	Type of gene	protein-coding
	Description	bromodomain adjacent to zinc finger domain protein 2B
	Modification date	20200313
	UniProtAcc	A0A0A0MR97, C9JCA6, F6VJC3, H7BXK5, H7C092, H7C1I6, L8EAN3, Q3B7K5, Q53TG3, Q9UIF8,
	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 BAZ2B

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.

ENSG00000226266

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	ENST00000441143.1	BAZ2B-207:protein_coding:BAZ2B	5.092717e+00	1.467755e+00	1.358991e-07	2.758234e-06
CB	UP	ENST00000343439.9	BAZ2B-202:protein_coding:BAZ2B	1.772178e+00	1.379763e+00	1.393638e-02	4.544299e-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 BAZ2B

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_118060	chr2	159332540:159332686:159336942:159337077:159337567:159337772	159336942:159337077
exon_skip_125338	chr2	159412432:159412545:159428311:159428419:159429200:159429260	159428311:159428419
exon_skip_159480	chr2	159395769:159395834:159397074:159397100:159397345:159397382	159397074:159397100
exon_skip_175028	chr2	159429200:159429260:159430863:159431156:159432757:159432950	159430863:159431156
exon_skip_189637	chr2	159446836:159446975:159448242:159448409:159453613:159453661	159448242:159448409
exon_skip_217084	chr2	159446836:159446975:159448242:159448409:159478575:159478721	159448242:159448409
exon_skip_22442	chr2	159448242:159448409:159453613:159453801:159478575:159478721	159453613:159453801
exon_skip_244258	chr2	159432757:159433363:159438303:159438695:159439009:159439212	159438303:159438695
exon_skip_250297	chr2	159373104:159373189:159374691:159374753:159382559:159382802	159374691:159374753
exon_skip_268393	chr2	159429200:159429260:159430863:159431156:159432757:159432894	159430863:159431156
exon_skip_277225	chr2	159324811:159324954:159325653:159325918:159332540:159332686	159325653:159325918
exon_skip_294026	chr2	159325764:159325918:159332540:159332686:159336942:159337077	159332540:159332686
exon_skip_296199	chr2	159446836:159446975:159448242:159448403:159453613:159453661	159448242:159448403
exon_skip_31377	chr2	159347486:159347646:159348678:159348833:159349007:159349280	159348678:159348833
exon_skip_43107	chr2	159398843:159398894:159400599:159400664:159404849:159404901	159400599:159400664
exon_skip_47705	chr2	159349708:159350357:159373045:159373189:159374691:159374753	159373045:159373189
exon_skip_59752	chr2	159397074:159397100:159397345:159397389:159398829:159398894	159397345:159397389
exon_skip_83706	chr2	159412432:159412545:159427941:159428042:159428311:159428419	159427941:159428042
exon_skip_85701	chr2	159389345:159389485:159395769:159395834:159397074:159397100	159395769:159395834
exon_skip_85920	chr2	159397345:159397389:159398829:159398894:159400599:159400650	159398829:159398894
exon_skip_9120	chr2	159332540:159332686:159337567:159337772:159347486:159347593	159337567:159337772

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_136285	Mayo_CB	6.812346e-01	7.839130e-01	-1.026785e-01	6.267527e-07
exon_skip_43107	Mayo_CB	8.023750e-01	9.143750e-01	-1.120000e-01	1.774864e-07
exon_skip_43107	Mayo_TC	7.667500e-01	8.681159e-01	-1.013659e-01	7.776659e-06

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Open reading frame (ORF) annotation in the exon skipping event for BAZ2B

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
ENST00000392783	159325653	159325918	Frame-shift
ENST00000392783	159336942	159337077	Frame-shift
ENST00000392783	159373045	159373189	Frame-shift
ENST00000392783	159374691	159374753	In-frame
ENST00000392783	159398829	159398894	In-frame
ENST00000392783	159400599	159400664	In-frame
ENST00000392783	159427941	159428042	In-frame
ENST00000392783	159430863	159431156	In-frame
ENST00000392783	159448242	159448409	In-frame
ENST00000392783	159453613	159453801	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
ENST00000392783	159336942	159337077	Frame-shift
ENST00000392783	159398829	159398894	In-frame
ENST00000392783	159400599	159400664	In-frame
ENST00000392783	159427941	159428042	In-frame
ENST00000392783	159430863	159431156	In-frame
ENST00000392783	159448242	159448409	In-frame
ENST00000392783	159453613	159453801	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
ENST00000392783	159325653	159325918	Frame-shift
ENST00000392783	159336942	159337077	Frame-shift
ENST00000392783	159332540	159332686	In-frame
ENST00000392783	159348678	159348833	In-frame
ENST00000392783	159398829	159398894	In-frame
ENST00000392783	159400599	159400664	In-frame
ENST00000392783	159427941	159428042	In-frame
ENST00000392783	159430863	159431156	In-frame
ENST00000392783	159438303	159438695	In-frame
ENST00000392783	159448242	159448409	In-frame
ENST00000392783	159453613	159453801	In-frame

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Infer the effects of exon skipping event on protein functional features for BAZ2B

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
ENST00000392783	8306	2168	159453613	159453801	642	829	48	111
ENST00000392783	8306	2168	159448242	159448409	831	997	111	167
ENST00000392783	8306	2168	159430863	159431156	2397	2689	633	731
ENST00000392783	8306	2168	159427941	159428042	2861	2961	788	821
ENST00000392783	8306	2168	159400599	159400664	3329	3393	944	965
ENST00000392783	8306	2168	159398829	159398894	3395	3459	966	987
ENST00000392783	8306	2168	159374691	159374753	4502	4563	1335	1355

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
ENST00000392783	8306	2168	159453613	159453801	642	829	48	111
ENST00000392783	8306	2168	159448242	159448409	831	997	111	167
ENST00000392783	8306	2168	159430863	159431156	2397	2689	633	731
ENST00000392783	8306	2168	159427941	159428042	2861	2961	788	821
ENST00000392783	8306	2168	159400599	159400664	3329	3393	944	965
ENST00000392783	8306	2168	159398829	159398894	3395	3459	966	987

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
ENST00000392783	8306	2168	159453613	159453801	642	829	48	111
ENST00000392783	8306	2168	159448242	159448409	831	997	111	167
ENST00000392783	8306	2168	159438303	159438695	1397	1788	300	430
ENST00000392783	8306	2168	159430863	159431156	2397	2689	633	731
ENST00000392783	8306	2168	159427941	159428042	2861	2961	788	821
ENST00000392783	8306	2168	159400599	159400664	3329	3393	944	965
ENST00000392783	8306	2168	159398829	159398894	3395	3459	966	987
ENST00000392783	8306	2168	159348678	159348833	5634	5788	1712	1764
ENST00000392783	8306	2168	159332540	159332686	6293	6438	1932	1980

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
Q9UIF8	48	111	1	196	Alternative sequence	ID=VSP_037114;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10662543;Dbxref=PMID:10662543
Q9UIF8	48	111	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	48	111	71	71	Natural variant	ID=VAR_055549;Note=M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17974005;Dbxref=dbSNP:rs10202670,PMID:17974005
Q9UIF8	48	111	95	95	Sequence conflict	Note=L->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIF8	111	167	1	196	Alternative sequence	ID=VSP_037114;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10662543;Dbxref=PMID:10662543
Q9UIF8	111	167	112	113	Alternative sequence	ID=VSP_037115;Note=In isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10819331,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10819331,PMID:15489334
Q9UIF8	111	167	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	111	167	149	265	Compositional bias	Note=Ser-rich
Q9UIF8	633	731	633	730	Alternative sequence	ID=VSP_000553;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9UIF8	633	731	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	633	731	595	666	Compositional bias	Note=Asp/Glu-rich (acidic)
Q9UIF8	633	731	702	702	Natural variant	ID=VAR_055552;Note=G->V;Dbxref=dbSNP:rs2302924
Q9UIF8	788	821	789	822	Alternative sequence	ID=VSP_000554;Note=In isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10819331,ECO:0000303\|PubMed:14702039;Dbxref=PMID:10819331,PMID:14702039
Q9UIF8	788	821	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	788	821	739	810	Domain	Note=MBD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00338
Q9UIF8	944	965	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	944	965	883	1061	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UIF8	944	965	902	1061	Compositional bias	Note=Lys-rich
Q9UIF8	966	987	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	966	987	883	1061	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UIF8	966	987	902	1061	Compositional bias	Note=Lys-rich
Q9UIF8	966	987	986	986	Sequence conflict	Note=R->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIF8	1335	1355	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	1335	1355	1334	1375	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UIF8	1335	1355	1296	1339	Compositional bias	Note=Asp-rich

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
Q9UIF8	48	111	1	196	Alternative sequence	ID=VSP_037114;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10662543;Dbxref=PMID:10662543
Q9UIF8	48	111	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	48	111	71	71	Natural variant	ID=VAR_055549;Note=M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17974005;Dbxref=dbSNP:rs10202670,PMID:17974005
Q9UIF8	48	111	95	95	Sequence conflict	Note=L->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIF8	111	167	1	196	Alternative sequence	ID=VSP_037114;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10662543;Dbxref=PMID:10662543
Q9UIF8	111	167	112	113	Alternative sequence	ID=VSP_037115;Note=In isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10819331,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10819331,PMID:15489334
Q9UIF8	111	167	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	111	167	149	265	Compositional bias	Note=Ser-rich
Q9UIF8	633	731	633	730	Alternative sequence	ID=VSP_000553;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9UIF8	633	731	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	633	731	595	666	Compositional bias	Note=Asp/Glu-rich (acidic)
Q9UIF8	633	731	702	702	Natural variant	ID=VAR_055552;Note=G->V;Dbxref=dbSNP:rs2302924
Q9UIF8	788	821	789	822	Alternative sequence	ID=VSP_000554;Note=In isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10819331,ECO:0000303\|PubMed:14702039;Dbxref=PMID:10819331,PMID:14702039
Q9UIF8	788	821	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	788	821	739	810	Domain	Note=MBD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00338
Q9UIF8	944	965	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	944	965	883	1061	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UIF8	944	965	902	1061	Compositional bias	Note=Lys-rich
Q9UIF8	966	987	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	966	987	883	1061	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UIF8	966	987	902	1061	Compositional bias	Note=Lys-rich
Q9UIF8	966	987	986	986	Sequence conflict	Note=R->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q9UIF8	48	111	1	196	Alternative sequence	ID=VSP_037114;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10662543;Dbxref=PMID:10662543
Q9UIF8	48	111	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	48	111	71	71	Natural variant	ID=VAR_055549;Note=M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17974005;Dbxref=dbSNP:rs10202670,PMID:17974005
Q9UIF8	48	111	95	95	Sequence conflict	Note=L->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIF8	111	167	1	196	Alternative sequence	ID=VSP_037114;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10662543;Dbxref=PMID:10662543
Q9UIF8	111	167	112	113	Alternative sequence	ID=VSP_037115;Note=In isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10819331,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10819331,PMID:15489334
Q9UIF8	111	167	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	111	167	149	265	Compositional bias	Note=Ser-rich
Q9UIF8	300	430	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	300	430	422	422	Natural variant	ID=VAR_055550;Note=L->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15489334,ECO:0000269\|PubMed:17974005;Dbxref=dbSNP:rs3213790,PMID:15489334,PMID:17974005
Q9UIF8	300	430	333	333	Sequence conflict	Note=S->F;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIF8	633	731	633	730	Alternative sequence	ID=VSP_000553;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9UIF8	633	731	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	633	731	595	666	Compositional bias	Note=Asp/Glu-rich (acidic)
Q9UIF8	633	731	702	702	Natural variant	ID=VAR_055552;Note=G->V;Dbxref=dbSNP:rs2302924
Q9UIF8	788	821	789	822	Alternative sequence	ID=VSP_000554;Note=In isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10819331,ECO:0000303\|PubMed:14702039;Dbxref=PMID:10819331,PMID:14702039
Q9UIF8	788	821	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	788	821	739	810	Domain	Note=MBD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00338
Q9UIF8	944	965	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	944	965	883	1061	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UIF8	944	965	902	1061	Compositional bias	Note=Lys-rich
Q9UIF8	966	987	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	966	987	883	1061	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UIF8	966	987	902	1061	Compositional bias	Note=Lys-rich
Q9UIF8	966	987	986	986	Sequence conflict	Note=R->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIF8	1712	1764	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	1932	1980	1946	1949	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4QF3
Q9UIF8	1932	1980	1955	1957	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4QF3
Q9UIF8	1932	1980	1961	1963	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4QF3
Q9UIF8	1932	1980	1	2168	Chain	ID=PRO_0000211174;Note=Bromodomain adjacent to zinc finger domain protein 2B
Q9UIF8	1932	1980	1943	1945	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4QF3
Q9UIF8	1932	1980	1976	1982	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4QF3
Q9UIF8	1932	1980	1935	1937	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4QF3
Q9UIF8	1932	1980	1950	1952	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4QF3
Q9UIF8	1932	1980	1958	1960	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4QF3
Q9UIF8	1932	1980	1931	1981	Zinc finger	Note=PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00146

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3'-UTR located exon skipping events that lost miRNA binding sites in BAZ2B

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 BAZ2B

- 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 BAZ2B

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 BAZ2B

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 BAZ2B

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	PABPN1	exon_skip_136285	-4.051305e-01	2.710448e-07
CB	CNOT4	exon_skip_136285	-5.177199e-01	1.166088e-11
CB	TRA2A	exon_skip_136285	-6.080742e-01	1.552577e-16
CB	SRSF1	exon_skip_136285	-4.188575e-01	9.587498e-08
CB	NUP42	exon_skip_43107	5.516124e-01	7.758342e-13
CB	RBM3	exon_skip_175028	5.048113e-01	1.105175e-10
CB	PCBP4	exon_skip_175028	4.246540e-01	1.128630e-07
CB	TRA2A	exon_skip_175028	-4.720025e-01	2.341530e-09
CB	NUP42	exon_skip_175028	4.568654e-01	8.623398e-09
DLPFC	RBM3	exon_skip_175028	4.112780e-01	3.498584e-13
FL	RBM3	exon_skip_175028	5.741668e-01	4.698906e-18
HCC	RBM3	exon_skip_175028	5.967916e-01	9.119085e-27
IFG	KHDRBS2	exon_skip_85920	-4.171455e-01	2.721106e-02
IFG	RBM3	exon_skip_83706	-4.466167e-01	1.719552e-02
IFG	RBM3	exon_skip_175028	6.873320e-01	1.471410e-04
IFG	PTBP1	exon_skip_175028	-4.180630e-01	3.755910e-02
IFG	ELAVL1	exon_skip_22442	5.453310e-01	2.689376e-03
IFG	RBM6	exon_skip_22442	5.362054e-01	3.269020e-03
IFG	TIA1	exon_skip_22442	5.490962e-01	2.477326e-03
IFG	IGF2BP3	exon_skip_22442	5.544106e-01	2.202581e-03
IFG	PCBP1	exon_skip_22442	4.352546e-01	2.061757e-02
IFG	HNRNPK	exon_skip_22442	5.669240e-01	1.657105e-03
IFG	PCBP2	exon_skip_22442	5.337369e-01	3.443068e-03
IFG	RC3H1	exon_skip_22442	4.470664e-01	1.707037e-02
IFG	SF1	exon_skip_22442	5.282514e-01	3.858430e-03
IFG	FUBP1	exon_skip_22442	6.638335e-01	1.174640e-04
IFG	KHSRP	exon_skip_22442	4.714767e-01	1.131852e-02
IFG	PTBP1	exon_skip_22442	4.292973e-01	2.262363e-02
IFG	SRSF9	exon_skip_22442	4.957485e-01	7.302347e-03
IFG	SRSF5	exon_skip_22442	5.123435e-01	5.313051e-03
IFG	RBM41	exon_skip_22442	4.346464e-01	2.081544e-02
IFG	RBM4B	exon_skip_22442	4.465029e-01	1.722730e-02
PCC	RBM3	exon_skip_175028	5.322275e-01	1.388343e-15
PG	RBM3	exon_skip_175028	5.037425e-01	6.067960e-14
STG	RBM3	exon_skip_175028	5.797650e-01	4.935667e-09
TC	NUP42	exon_skip_136285	-4.601853e-01	3.994093e-09
TC	NOVA1	exon_skip_43107	4.521041e-01	7.124482e-09
TC	RBM3	exon_skip_268393	5.498988e-01	3.138711e-13

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RelatedDrugs for BAZ2B

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 BAZ2B

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 BAZ2B

Gene structures and expression levels for BAZ2B

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for BAZ2B

Open reading frame (ORF) annotation in the exon skipping event for BAZ2B

Infer the effects of exon skipping event on protein functional features for BAZ2B

3'-UTR located exon skipping events that lost miRNA binding sites in BAZ2B

SNVs in the skipped exons for BAZ2B

AD stage-associated exon skippint events for BAZ2B

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BAZ2B

Correlation with RNA binding proteins (RBPs) for BAZ2B

RelatedDrugs for BAZ2B

RelatedDiseases for BAZ2B