ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for BAZ1A

Gene summary

Gene information	Gene symbol	BAZ1A
	Gene ID	11177
	Gene name	bromodomain adjacent to zinc finger domain 1A
	Synonyms	ACF1\|WALp1\|WCRF180\|hACF1
	Cytomap	14q13.1-q13.2
	Type of gene	protein-coding
	Description	bromodomain adjacent to zinc finger domain protein 1AATP-dependent chromatin remodeling proteinATP-utilizing chromatin assembly and remodeling factor 1CHRAC subunit ACF1hWALp1williams syndrome transcription factor-related chromatin-remodeling factor
	Modification date	20180519
	UniProtAcc	Q9NRL2
	Context	PubMed: BAZ1A [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

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

Gene	GO ID	GO term	PubMed ID
BAZ1A	GO:0006261	DNA-dependent DNA replication	12434153

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Exon skipping events across known transcript of Ensembl for BAZ1A from UCSC genome browser

Skipped exons in TCGA and GTEx 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.

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Gene isoform structures and expression levels for BAZ1A

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for BAZ1A

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_112566	14	35222439:35222910:35224032:35224120:35227909:35228052	35224032:35224120	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112567	14	35224032:35224120:35227909:35228052:35230962:35230982	35227909:35228052	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112572	14	35227909:35228052:35230962:35231429:35233912:35234139	35230962:35231429	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112573	14	35234226:35234474:35237895:35237986:35240716:35240865	35237895:35237986	ENSG00000198604.6	ENST00000554865.1
exon_skip_112574	14	35234226:35234474:35240716:35240865:35242777:35242932	35240716:35240865	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112576	14	35252324:35252438:35252967:35253133:35254982:35255207	35252967:35253133	ENSG00000198604.6	ENST00000555273.1,ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112579	14	35253101:35253133:35254982:35255207:35261980:35262127	35254982:35255207	ENSG00000198604.6	ENST00000358716.4
exon_skip_112584	14	35254982:35255207:35255331:35255427:35261980:35262041	35255331:35255427	ENSG00000198604.6	ENST00000382422.2,ENST00000360310.1
exon_skip_112587	14	35255331:35255427:35261980:35262127:35263954:35264093	35261980:35262127	ENSG00000198604.6	ENST00000382422.2,ENST00000360310.1
exon_skip_112590	14	35263954:35264093:35264875:35264971:35269429:35269596	35264875:35264971	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112591	14	35270299:35270399:35272059:35272194:35276656:35276744	35272059:35272194	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112592	14	35272059:35272194:35276656:35276744:35280140:35280242	35276656:35276744	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112594	14	35276656:35276744:35280140:35280242:35295218:35295362	35280140:35280242	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112595	14	35280147:35280242:35285920:35286062:35295218:35295362	35285920:35286062	ENSG00000198604.6	ENST00000553573.1
exon_skip_112596	14	35280147:35280242:35295218:35295362:35331249:35331313	35295218:35295362	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112597	14	35295218:35295362:35331249:35331528:35343697:35343868	35331249:35331528	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for BAZ1A

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_112566	14	35222439:35222910:35224032:35224120:35227909:35228052	35224032:35224120	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112567	14	35224032:35224120:35227909:35228052:35230962:35230982	35227909:35228052	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112572	14	35227909:35228052:35230962:35231429:35233912:35234139	35230962:35231429	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112574	14	35234226:35234474:35240716:35240865:35242777:35242932	35240716:35240865	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112576	14	35252324:35252438:35252967:35253133:35254982:35255207	35252967:35253133	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1,ENST00000555273.1
exon_skip_112579	14	35253101:35253133:35254982:35255207:35261980:35262127	35254982:35255207	ENSG00000198604.6	ENST00000358716.4
exon_skip_112584	14	35254982:35255207:35255331:35255427:35261980:35262041	35255331:35255427	ENSG00000198604.6	ENST00000382422.2,ENST00000360310.1
exon_skip_112587	14	35255331:35255427:35261980:35262127:35263954:35264093	35261980:35262127	ENSG00000198604.6	ENST00000382422.2,ENST00000360310.1
exon_skip_112590	14	35263954:35264093:35264875:35264971:35269429:35269596	35264875:35264971	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112591	14	35270299:35270399:35272059:35272194:35276656:35276744	35272059:35272194	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112592	14	35272059:35272194:35276656:35276744:35280140:35280242	35276656:35276744	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112594	14	35276656:35276744:35280140:35280242:35295218:35295362	35280140:35280242	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112595	14	35280147:35280242:35285920:35286062:35295218:35295362	35285920:35286062	ENSG00000198604.6	ENST00000553573.1
exon_skip_112596	14	35280147:35280242:35295218:35295362:35331249:35331313	35295218:35295362	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1
exon_skip_112597	14	35295218:35295362:35331249:35331528:35343697:35343868	35331249:35331528	ENSG00000198604.6	ENST00000358716.4,ENST00000382422.2,ENST00000360310.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for BAZ1A

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000360310	35224032	35224120	Frame-shift
ENST00000382422	35224032	35224120	Frame-shift
ENST00000360310	35227909	35228052	Frame-shift
ENST00000382422	35227909	35228052	Frame-shift
ENST00000360310	35230962	35231429	Frame-shift
ENST00000382422	35230962	35231429	Frame-shift
ENST00000360310	35240716	35240865	Frame-shift
ENST00000382422	35240716	35240865	Frame-shift
ENST00000360310	35252967	35253133	Frame-shift
ENST00000382422	35252967	35253133	Frame-shift
ENST00000360310	35276656	35276744	Frame-shift
ENST00000382422	35276656	35276744	Frame-shift
ENST00000360310	35255331	35255427	In-frame
ENST00000382422	35255331	35255427	In-frame
ENST00000360310	35261980	35262127	In-frame
ENST00000382422	35261980	35262127	In-frame
ENST00000360310	35264875	35264971	In-frame
ENST00000382422	35264875	35264971	In-frame
ENST00000360310	35272059	35272194	In-frame
ENST00000382422	35272059	35272194	In-frame
ENST00000360310	35280140	35280242	In-frame
ENST00000382422	35280140	35280242	In-frame
ENST00000360310	35295218	35295362	In-frame
ENST00000382422	35295218	35295362	In-frame
ENST00000360310	35331249	35331528	In-frame
ENST00000382422	35331249	35331528	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000360310	35224032	35224120	Frame-shift
ENST00000382422	35224032	35224120	Frame-shift
ENST00000360310	35227909	35228052	Frame-shift
ENST00000382422	35227909	35228052	Frame-shift
ENST00000360310	35230962	35231429	Frame-shift
ENST00000382422	35230962	35231429	Frame-shift
ENST00000360310	35240716	35240865	Frame-shift
ENST00000382422	35240716	35240865	Frame-shift
ENST00000360310	35252967	35253133	Frame-shift
ENST00000382422	35252967	35253133	Frame-shift
ENST00000360310	35276656	35276744	Frame-shift
ENST00000382422	35276656	35276744	Frame-shift
ENST00000360310	35255331	35255427	In-frame
ENST00000382422	35255331	35255427	In-frame
ENST00000360310	35261980	35262127	In-frame
ENST00000382422	35261980	35262127	In-frame
ENST00000360310	35264875	35264971	In-frame
ENST00000382422	35264875	35264971	In-frame
ENST00000360310	35272059	35272194	In-frame
ENST00000382422	35272059	35272194	In-frame
ENST00000360310	35280140	35280242	In-frame
ENST00000382422	35280140	35280242	In-frame
ENST00000360310	35295218	35295362	In-frame
ENST00000382422	35295218	35295362	In-frame
ENST00000360310	35331249	35331528	In-frame
ENST00000382422	35331249	35331528	In-frame

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Infer the effects of exon skipping event on protein functional features for BAZ1A

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA 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
ENST00000360310	6027	1556	35331249	35331528	682	960	38	130
ENST00000382422	5792	1556	35331249	35331528	442	720	38	130
ENST00000360310	6027	1556	35295218	35295362	961	1104	131	178
ENST00000382422	5792	1556	35295218	35295362	721	864	131	178
ENST00000360310	6027	1556	35280140	35280242	1105	1206	179	212
ENST00000382422	5792	1556	35280140	35280242	865	966	179	212
ENST00000360310	6027	1556	35272059	35272194	1295	1429	242	287
ENST00000382422	5792	1556	35272059	35272194	1055	1189	242	287
ENST00000360310	6027	1556	35264875	35264971	1697	1792	376	408
ENST00000382422	5792	1556	35264875	35264971	1457	1552	376	408
ENST00000360310	6027	1556	35261980	35262127	1932	2078	454	503
ENST00000382422	5792	1556	35261980	35262127	1692	1838	454	503
ENST00000360310	6027	1556	35255331	35255427	2079	2174	503	535
ENST00000382422	5792	1556	35255331	35255427	1839	1934	503	535

Loci of skipped exons in GTEx 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
ENST00000360310	6027	1556	35331249	35331528	682	960	38	130
ENST00000382422	5792	1556	35331249	35331528	442	720	38	130
ENST00000360310	6027	1556	35295218	35295362	961	1104	131	178
ENST00000382422	5792	1556	35295218	35295362	721	864	131	178
ENST00000360310	6027	1556	35280140	35280242	1105	1206	179	212
ENST00000382422	5792	1556	35280140	35280242	865	966	179	212
ENST00000360310	6027	1556	35272059	35272194	1295	1429	242	287
ENST00000382422	5792	1556	35272059	35272194	1055	1189	242	287
ENST00000360310	6027	1556	35264875	35264971	1697	1792	376	408
ENST00000382422	5792	1556	35264875	35264971	1457	1552	376	408
ENST00000360310	6027	1556	35261980	35262127	1932	2078	454	503
ENST00000382422	5792	1556	35261980	35262127	1692	1838	454	503
ENST00000360310	6027	1556	35255331	35255427	2079	2174	503	535
ENST00000382422	5792	1556	35255331	35255427	1839	1934	503	535

Lost protein functional features of individual exon skipping events in TCGA.

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
Q9NRL2	38	130	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	38	130	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	38	130	22	128	Domain	Note=WAC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00475
Q9NRL2	38	130	22	128	Domain	Note=WAC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00475
Q9NRL2	38	130	1	133	Region	Note=Required for interaction with NCOR1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17519354;Dbxref=PMID:17519354
Q9NRL2	38	130	1	133	Region	Note=Required for interaction with NCOR1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17519354;Dbxref=PMID:17519354
Q9NRL2	38	130	1	128	Region	Note=Required for association with the CHRAC1/POLE3 complex
Q9NRL2	38	130	1	128	Region	Note=Required for association with the CHRAC1/POLE3 complex
Q9NRL2	131	178	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	131	178	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	131	178	1	133	Region	Note=Required for interaction with NCOR1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17519354;Dbxref=PMID:17519354
Q9NRL2	131	178	1	133	Region	Note=Required for interaction with NCOR1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17519354;Dbxref=PMID:17519354
Q9NRL2	131	178	135	135	Sequence conflict	Note=R->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	131	178	135	135	Sequence conflict	Note=R->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	179	212	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	179	212	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	242	287	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	242	287	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	242	287	270	270	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231;Dbxref=PMID:19690332,PMID:20068231
Q9NRL2	242	287	270	270	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231;Dbxref=PMID:19690332,PMID:20068231
Q9NRL2	376	408	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	376	408	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	376	408	306	397	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRL2	376	408	306	397	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRL2	454	503	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	454	503	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	454	503	487	491	Compositional bias	Note=Poly-Glu
Q9NRL2	454	503	487	491	Compositional bias	Note=Poly-Glu
Q9NRL2	454	503	422	487	Domain	Note=DDT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00063
Q9NRL2	454	503	422	487	Domain	Note=DDT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00063
Q9NRL2	454	503	494	494	Sequence conflict	Note=K->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	454	503	494	494	Sequence conflict	Note=K->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	454	503	503	508	Sequence conflict	Note=KDLTEA->QDFTEP;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	454	503	503	508	Sequence conflict	Note=KDLTEA->QDFTEP;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	503	535	504	535	Alternative sequence	ID=VSP_000551;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10655480;Dbxref=PMID:10655480
Q9NRL2	503	535	504	535	Alternative sequence	ID=VSP_000551;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10655480;Dbxref=PMID:10655480
Q9NRL2	503	535	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	503	535	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	503	535	503	508	Sequence conflict	Note=KDLTEA->QDFTEP;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	503	535	503	508	Sequence conflict	Note=KDLTEA->QDFTEP;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	503	535	525	525	Sequence conflict	Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	503	535	525	525	Sequence conflict	Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305

Lost protein functional features of individual exon skipping events in GTEx.

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
Q9NRL2	38	130	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	38	130	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	38	130	22	128	Domain	Note=WAC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00475
Q9NRL2	38	130	22	128	Domain	Note=WAC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00475
Q9NRL2	38	130	1	133	Region	Note=Required for interaction with NCOR1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17519354;Dbxref=PMID:17519354
Q9NRL2	38	130	1	133	Region	Note=Required for interaction with NCOR1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17519354;Dbxref=PMID:17519354
Q9NRL2	38	130	1	128	Region	Note=Required for association with the CHRAC1/POLE3 complex
Q9NRL2	38	130	1	128	Region	Note=Required for association with the CHRAC1/POLE3 complex
Q9NRL2	131	178	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	131	178	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	131	178	1	133	Region	Note=Required for interaction with NCOR1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17519354;Dbxref=PMID:17519354
Q9NRL2	131	178	1	133	Region	Note=Required for interaction with NCOR1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17519354;Dbxref=PMID:17519354
Q9NRL2	131	178	135	135	Sequence conflict	Note=R->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	131	178	135	135	Sequence conflict	Note=R->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	179	212	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	179	212	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	242	287	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	242	287	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	242	287	270	270	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231;Dbxref=PMID:19690332,PMID:20068231
Q9NRL2	242	287	270	270	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231;Dbxref=PMID:19690332,PMID:20068231
Q9NRL2	376	408	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	376	408	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	376	408	306	397	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRL2	376	408	306	397	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRL2	454	503	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	454	503	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	454	503	487	491	Compositional bias	Note=Poly-Glu
Q9NRL2	454	503	487	491	Compositional bias	Note=Poly-Glu
Q9NRL2	454	503	422	487	Domain	Note=DDT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00063
Q9NRL2	454	503	422	487	Domain	Note=DDT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00063
Q9NRL2	454	503	494	494	Sequence conflict	Note=K->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	454	503	494	494	Sequence conflict	Note=K->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	454	503	503	508	Sequence conflict	Note=KDLTEA->QDFTEP;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	454	503	503	508	Sequence conflict	Note=KDLTEA->QDFTEP;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	503	535	504	535	Alternative sequence	ID=VSP_000551;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10655480;Dbxref=PMID:10655480
Q9NRL2	503	535	504	535	Alternative sequence	ID=VSP_000551;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10655480;Dbxref=PMID:10655480
Q9NRL2	503	535	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	503	535	1	1556	Chain	ID=PRO_0000211167;Note=Bromodomain adjacent to zinc finger domain protein 1A
Q9NRL2	503	535	503	508	Sequence conflict	Note=KDLTEA->QDFTEP;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	503	535	503	508	Sequence conflict	Note=KDLTEA->QDFTEP;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	503	535	525	525	Sequence conflict	Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRL2	503	535	525	525	Sequence conflict	Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305

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SNVs in the skipped exons for BAZ1A

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

BAZ1A_PRAD_exon_skip_112584_psi_boxplot.png
boxplot

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A39Y-01	exon_skip_112572	35230963	35231429	35230975	35230975	Frame_Shift_Del	T	-	p.R1411fs
COAD	TCGA-CM-5861-01	exon_skip_112572	35230963	35231429	35230980	35230980	Frame_Shift_Del	C	-	p.R1377fs
BLCA	TCGA-GV-A3QI-01	exon_skip_112574	35240717	35240865	35240754	35240755	Frame_Shift_Del	CT	-	p.E1088fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_112574	35240717	35240865	35240849	35240849	Frame_Shift_Del	T	-	p.T1057fs
STAD	TCGA-CG-5723-01	exon_skip_112576	35252968	35253133	35253125	35253125	Frame_Shift_Del	T	-	p.M614fs
COAD	TCGA-AZ-6598-01	exon_skip_112587	35261981	35262127	35262064	35262064	Frame_Shift_Del	A	-	p.F476fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_112596	35295219	35295362	35295311	35295311	Frame_Shift_Del	A	-	p.F148fs
LIHC	TCGA-DD-A39Y-01	exon_skip_112597	35331250	35331528	35331291	35331291	Frame_Shift_Del	A	-	p.F117fs
COAD	TCGA-AZ-6598-01	exon_skip_112597	35331250	35331528	35331423	35331423	Frame_Shift_Del	T	-	p.A74fs
LIHC	TCGA-DD-A3A8-01	exon_skip_112597	35331250	35331528	35331423	35331423	Frame_Shift_Del	T	-	p.K73fs
THYM	TCGA-ZB-A966-01	exon_skip_112597	35331250	35331528	35331423	35331423	Frame_Shift_Del	T	-	p.A74fs
COAD	TCGA-AD-6889-01	exon_skip_112597	35331250	35331528	35331519	35331519	Frame_Shift_Del	A	-	p.E42fs
LIHC	TCGA-BC-A112-01	exon_skip_112587	35261981	35262127	35262063	35262064	Frame_Shift_Ins	-	A	p.F476fs
LIHC	TCGA-BC-A112-01	exon_skip_112592	35276657	35276744	35276724	35276725	Frame_Shift_Ins	-	A	p.S220fs
HNSC	TCGA-T3-A92N-01	exon_skip_112597	35331250	35331528	35331380	35331381	Frame_Shift_Ins	-	A	p.S88fs
STAD	TCGA-VQ-A8P2-01	exon_skip_112576	35252968	35253133	35253041	35253041	Nonsense_Mutation	G	A	p.R642*
STAD	TCGA-VQ-A8P2-01	exon_skip_112576	35252968	35253133	35253041	35253041	Nonsense_Mutation	G	A	p.R642X
PRAD	TCGA-EJ-7782-01	exon_skip_112584	35255332	35255427	35255348	35255348	Nonsense_Mutation	C	T	p.W530*
UCEC	TCGA-BS-A0UV-01	exon_skip_112587	35261981	35262127	35262020	35262020	Nonsense_Mutation	C	A	p.E491*
HNSC	TCGA-CV-5432-01	exon_skip_112587	35261981	35262127	35262044	35262044	Nonsense_Mutation	G	A	p.Q483*
STAD	TCGA-VQ-A8P2-01	exon_skip_112591	35272060	35272194	35272164	35272164	Nonsense_Mutation	C	A	p.E253*
STAD	TCGA-VQ-A8P2-01	exon_skip_112591	35272060	35272194	35272164	35272164	Nonsense_Mutation	C	A	p.E253X
UCEC	TCGA-B5-A0JY-01	exon_skip_112594	35280141	35280242	35280181	35280181	Nonsense_Mutation	C	A	p.E200*
LUSC	TCGA-66-2785-01	exon_skip_112596	35295219	35295362	35295249	35295249	Nonsense_Mutation	G	C	p.S169*
UCEC	TCGA-A5-A0GP-01	exon_skip_112596	35295219	35295362	35295280	35295280	Nonsense_Mutation	C	A	p.E159*

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-EJ-7782-01
	Cancer type: PRAD
	ESID: exon_skip_112584
	Skipped exon start: 35255332
	Skipped exon end: 35255427
	Mutation start: 35255348
	Mutation end: 35255348
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W530*
exon_skip_112584_PRAD_TCGA-EJ-7782-01.png
exon_skip_300499_PRAD_TCGA-EJ-7782-01.png
exon_skip_310302_PRAD_TCGA-EJ-7782-01.png

- 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
OCUBM_BREAST	35224033	35224120	35224092	35224092	Frame_Shift_Del	T	-	p.K1472fs
SNU1196_BILIARY_TRACT	35230963	35231429	35231187	35231187	Frame_Shift_Del	T	-	p.H1340fs
SNU1196_BILIARY_TRACT	35230963	35231429	35231189	35231190	Frame_Shift_Del	AC	-	p.S1339fs
HT115_LARGE_INTESTINE	35224033	35224120	35224069	35224069	Missense_Mutation	G	A	p.R1480C
NCIH1770_LUNG	35230963	35231429	35230965	35230965	Missense_Mutation	G	A	p.P1414L
NCIH2106_LUNG	35230963	35231429	35230965	35230965	Missense_Mutation	G	A	p.P1414L
SCC9_UPPER_AERODIGESTIVE_TRACT	35230963	35231429	35231190	35231190	Missense_Mutation	C	T	p.S1339N
RPMI6666_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35230963	35231429	35231244	35231244	Missense_Mutation	G	A	p.A1321V
SARC9371_BONE	35230963	35231429	35231362	35231362	Missense_Mutation	A	T	p.F1282I
HEC1A_ENDOMETRIUM	35230963	35231429	35231383	35231383	Missense_Mutation	T	C	p.R1275G
PACADD137_PANCREAS	35240717	35240865	35240771	35240771	Missense_Mutation	C	T	p.A1083T
LNCAPCLONEFGC_PROSTATE	35240717	35240865	35240774	35240774	Missense_Mutation	T	A	p.M1082L
OELE_OVARY	35240717	35240865	35240774	35240774	Missense_Mutation	T	C	p.M1082V
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35240717	35240865	35240792	35240792	Missense_Mutation	C	T	p.V1076M
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35240717	35240865	35240863	35240863	Missense_Mutation	A	G	p.L1052P
LOVO_LARGE_INTESTINE	35252968	35253133	35252998	35252998	Missense_Mutation	T	C	p.H656R
PANC0203_PANCREAS	35252968	35253133	35253047	35253047	Missense_Mutation	T	C	p.I640V
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35252968	35253133	35253118	35253118	Missense_Mutation	A	T	p.I616K
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35254983	35255207	35254998	35254998	Missense_Mutation	A	G	p.Y606H
NB5_AUTONOMIC_GANGLIA	35254983	35255207	35255082	35255082	Missense_Mutation	C	T	p.G578R
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35255332	35255427	35255365	35255365	Missense_Mutation	A	C	p.S525A
SYO1_SOFT_TISSUE	35255332	35255427	35255376	35255376	Missense_Mutation	G	A	p.S521F
MCAS_OVARY	35255332	35255427	35255376	35255376	Missense_Mutation	G	A	p.S521F
KYM1_SOFT_TISSUE	35255332	35255427	35255376	35255376	Missense_Mutation	G	A	p.S521F
HSC39_STOMACH	35255332	35255427	35255376	35255376	Missense_Mutation	G	A	p.S521F
TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35255332	35255427	35255376	35255376	Missense_Mutation	G	A	p.S521F
DMS79_LUNG	35255332	35255427	35255383	35255383	Missense_Mutation	C	A	p.A519S
LNCAPCLONEFGC_PROSTATE	35255332	35255427	35255415	35255415	Missense_Mutation	G	T	p.A508D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35261981	35262127	35262036	35262036	Missense_Mutation	T	C	p.I485M
WM1552C_SKIN	35261981	35262127	35262043	35262043	Missense_Mutation	T	C	p.Q483R
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35272060	35272194	35272067	35272067	Missense_Mutation	A	C	p.I285S
SNU423_LIVER	35272060	35272194	35272067	35272067	Missense_Mutation	A	C	p.I285S
IPC298_SKIN	35272060	35272194	35272109	35272109	Missense_Mutation	G	A	p.P271L
HCC2998_LARGE_INTESTINE	35272060	35272194	35272144	35272144	Missense_Mutation	G	T	p.F259L
UACC62_SKIN	35276657	35276744	35276670	35276670	Missense_Mutation	A	G	p.V238A
BICR18_UPPER_AERODIGESTIVE_TRACT	35280141	35280242	35280163	35280163	Missense_Mutation	T	C	p.I206V
HEC251_ENDOMETRIUM	35280141	35280242	35280165	35280165	Missense_Mutation	G	A	p.A205V
NCIH630_LARGE_INTESTINE	35280141	35280242	35280165	35280165	Missense_Mutation	G	A	p.A205V
MZ7MEL_SKIN	35295219	35295362	35295264	35295264	Missense_Mutation	C	T	p.S164N
COLO684_ENDOMETRIUM	35331250	35331528	35331295	35331295	Missense_Mutation	T	C	p.Y116C
NCIH1770_LUNG	35331250	35331528	35331398	35331398	Missense_Mutation	G	A	p.P82S
NCIH2106_LUNG	35331250	35331528	35331398	35331398	Missense_Mutation	G	A	p.P82S
JHUEM7_ENDOMETRIUM	35331250	35331528	35331514	35331514	Missense_Mutation	C	T	p.R43Q
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	35331250	35331528	35331518	35331518	Missense_Mutation	C	T	p.E42K
COLO684_ENDOMETRIUM	35230963	35231429	35230964	35230964	Splice_Site	T	C	p.P1414P

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BAZ1A

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BAZ1A

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BAZ1A

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RelatedDrugs for BAZ1A

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

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for BAZ1A

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 TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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