ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for BRD8

Gene summary

Gene information	Gene symbol	BRD8
	Gene ID	10902
	Gene name	bromodomain containing 8
	Synonyms	SMAP\|SMAP2\|p120
	Cytomap	5q31.2
	Type of gene	protein-coding
	Description	bromodomain-containing protein 8skeletal muscle abundant protein 2thyroid hormone receptor coactivating protein of 120 kDatrCP120
	Modification date	20180519
	UniProtAcc	Q9H0E9
	Context	PubMed: BRD8 [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
BRD8	GO:0043967	histone H4 acetylation	14966270
BRD8	GO:0043968	histone H2A acetylation	14966270

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Exon skipping events across known transcript of Ensembl for BRD8 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 BRD8

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 BRD8

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_444476	5	137488170:137488449:137495243:137495288:137495757:137495818	137495243:137495288	ENSG00000112983.13	ENST00000254900.5
exon_skip_444479	5	137492610:137492956:137493330:137493583:137495243:137495288	137493330:137493583	ENSG00000112983.13	ENST00000472478.2
exon_skip_444483	5	137492610:137492956:137495243:137495288:137495757:137495818	137495243:137495288	ENSG00000112983.13	ENST00000230901.5,ENST00000512140.1,ENST00000402931.1,ENST00000455658.2
exon_skip_444485	5	137493330:137493583:137495243:137495288:137495757:137495818	137495243:137495288	ENSG00000112983.13	ENST00000472478.2
exon_skip_444488	5	137496656:137496757:137497484:137497553:137497742:137497835	137497484:137497553	ENSG00000112983.13	ENST00000411594.2,ENST00000230901.5,ENST00000441656.1,ENST00000454473.1,ENST00000512140.1,ENST00000402931.1,ENST00000515014.1,ENST00000418329.1,ENST00000254900.5,ENST00000506167.1,ENST00000455658.2
exon_skip_444491	5	137497484:137497553:137497742:137497835:137498818:137499033	137497742:137497835	ENSG00000112983.13	ENST00000411594.2,ENST00000230901.5,ENST00000441656.1,ENST00000454473.1,ENST00000512140.1,ENST00000402931.1,ENST00000418329.1,ENST00000254900.5,ENST00000506167.1,ENST00000455658.2
exon_skip_444497	5	137498818:137499033:137499275:137499332:137499775:137499822	137499275:137499332	ENSG00000112983.13	ENST00000506167.1
exon_skip_444499	5	137498818:137499033:137499775:137499822:137500008:137500102	137499775:137499822	ENSG00000112983.13	ENST00000411594.2,ENST00000230901.5,ENST00000441656.1,ENST00000454473.1,ENST00000512140.1,ENST00000511898.1,ENST00000402931.1,ENST00000418329.1,ENST00000254900.5,ENST00000455658.2
exon_skip_444502	5	137499275:137499332:137499775:137499822:137500008:137500102	137499775:137499822	ENSG00000112983.13	ENST00000506167.1
exon_skip_444505	5	137500008:137500102:137500402:137500855:137501516:137501651	137500402:137500855	ENSG00000112983.13	ENST00000411594.2,ENST00000230901.5,ENST00000441656.1,ENST00000454473.1,ENST00000512140.1,ENST00000402931.1,ENST00000418329.1,ENST00000254900.5,ENST00000506167.1,ENST00000455658.2
exon_skip_444507	5	137501687:137501797:137502206:137502299:137503622:137503767	137502206:137502299	ENSG00000112983.13	ENST00000454473.1
exon_skip_444510	5	137501687:137501797:137502206:137502416:137503622:137503767	137502206:137502416	ENSG00000112983.13	ENST00000230901.5,ENST00000512140.1,ENST00000402931.1,ENST00000254900.5,ENST00000455658.2
exon_skip_444513	5	137501687:137501797:137503622:137503767:137504158:137504377	137503622:137503767	ENSG00000112983.13	ENST00000411594.2,ENST00000441656.1,ENST00000418329.1
exon_skip_444514	5	137501687:137501797:137503622:137503767:137504910:137505038	137503622:137503767	ENSG00000112983.13	ENST00000453824.1
exon_skip_444516	5	137503675:137503767:137504158:137504377:137504910:137504984	137504158:137504377	ENSG00000112983.13	ENST00000411594.2,ENST00000230901.5,ENST00000441656.1,ENST00000454473.1,ENST00000418329.1
exon_skip_444518	5	137506069:137506098:137506520:137506601:137506726:137506749	137506520:137506601	ENSG00000112983.13	ENST00000428808.1,ENST00000453824.1,ENST00000411594.2,ENST00000230901.5,ENST00000441656.1,ENST00000454473.1,ENST00000512140.1,ENST00000450756.1,ENST00000425764.1,ENST00000402931.1,ENST00000432618.1,ENST00000418329.1,ENST00000254900.5,ENST00000455658.2
exon_skip_444521	5	137506726:137506849:137507049:137507099:137513259:137513356	137507049:137507099	ENSG00000112983.13	ENST00000512140.1,ENST00000455658.2
exon_skip_444522	5	137507049:137507099:137507753:137507823:137513259:137513356	137507753:137507823	ENSG00000112983.13	ENST00000411594.2,ENST00000230901.5,ENST00000441656.1,ENST00000454473.1,ENST00000515254.1,ENST00000425764.1,ENST00000402931.1,ENST00000432618.1,ENST00000418329.1,ENST00000254900.5
exon_skip_444524	5	137507754:137507823:137508408:137508515:137513259:137513356	137508408:137508515	ENSG00000112983.13	ENST00000450756.1
exon_skip_444525	5	137507754:137507823:137508408:137508540:137513259:137513356	137508408:137508540	ENSG00000112983.13	ENST00000430331.1
exon_skip_444527	5	137507753:137507823:137513259:137513356:137514284:137514288	137513259:137513356	ENSG00000112983.13	ENST00000411594.2,ENST00000230901.5,ENST00000454473.1,ENST00000515254.1,ENST00000425764.1,ENST00000402931.1,ENST00000432618.1,ENST00000418329.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for BRD8

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_444476	5	137488170:137488449:137495243:137495288:137495757:137495818	137495243:137495288	ENSG00000112983.13	ENST00000254900.5
exon_skip_444479	5	137492610:137492956:137493330:137493583:137495243:137495288	137493330:137493583	ENSG00000112983.13	ENST00000472478.2
exon_skip_444483	5	137492610:137492956:137495243:137495288:137495757:137495818	137495243:137495288	ENSG00000112983.13	ENST00000230901.5,ENST00000402931.1,ENST00000512140.1,ENST00000455658.2
exon_skip_444485	5	137493330:137493583:137495243:137495288:137495757:137495818	137495243:137495288	ENSG00000112983.13	ENST00000472478.2
exon_skip_444488	5	137496656:137496757:137497484:137497553:137497742:137497835	137497484:137497553	ENSG00000112983.13	ENST00000254900.5,ENST00000441656.1,ENST00000454473.1,ENST00000418329.1,ENST00000230901.5,ENST00000402931.1,ENST00000411594.2,ENST00000512140.1,ENST00000455658.2,ENST00000515014.1,ENST00000506167.1
exon_skip_444491	5	137497484:137497553:137497742:137497835:137498818:137499033	137497742:137497835	ENSG00000112983.13	ENST00000254900.5,ENST00000441656.1,ENST00000454473.1,ENST00000418329.1,ENST00000230901.5,ENST00000402931.1,ENST00000411594.2,ENST00000512140.1,ENST00000455658.2,ENST00000506167.1
exon_skip_444497	5	137498818:137499033:137499275:137499332:137499775:137499822	137499275:137499332	ENSG00000112983.13	ENST00000506167.1
exon_skip_444499	5	137498818:137499033:137499775:137499822:137500008:137500102	137499775:137499822	ENSG00000112983.13	ENST00000254900.5,ENST00000441656.1,ENST00000454473.1,ENST00000418329.1,ENST00000230901.5,ENST00000402931.1,ENST00000411594.2,ENST00000512140.1,ENST00000455658.2,ENST00000511898.1
exon_skip_444502	5	137499275:137499332:137499775:137499822:137500008:137500102	137499775:137499822	ENSG00000112983.13	ENST00000506167.1
exon_skip_444505	5	137500008:137500102:137500402:137500855:137501516:137501651	137500402:137500855	ENSG00000112983.13	ENST00000254900.5,ENST00000441656.1,ENST00000454473.1,ENST00000418329.1,ENST00000230901.5,ENST00000402931.1,ENST00000411594.2,ENST00000512140.1,ENST00000455658.2,ENST00000506167.1
exon_skip_444507	5	137501687:137501797:137502206:137502299:137503622:137503767	137502206:137502299	ENSG00000112983.13	ENST00000454473.1
exon_skip_444510	5	137501687:137501797:137502206:137502416:137503622:137503767	137502206:137502416	ENSG00000112983.13	ENST00000254900.5,ENST00000230901.5,ENST00000402931.1,ENST00000512140.1,ENST00000455658.2
exon_skip_444513	5	137501687:137501797:137503622:137503767:137504158:137504377	137503622:137503767	ENSG00000112983.13	ENST00000441656.1,ENST00000418329.1,ENST00000411594.2
exon_skip_444514	5	137501687:137501797:137503622:137503767:137504910:137505038	137503622:137503767	ENSG00000112983.13	ENST00000453824.1
exon_skip_444516	5	137503675:137503767:137504158:137504377:137504910:137504984	137504158:137504377	ENSG00000112983.13	ENST00000441656.1,ENST00000454473.1,ENST00000418329.1,ENST00000230901.5,ENST00000411594.2
exon_skip_444518	5	137506069:137506098:137506520:137506601:137506726:137506749	137506520:137506601	ENSG00000112983.13	ENST00000254900.5,ENST00000441656.1,ENST00000454473.1,ENST00000418329.1,ENST00000230901.5,ENST00000402931.1,ENST00000411594.2,ENST00000512140.1,ENST00000455658.2,ENST00000453824.1,ENST00000428808.1,ENST00000432618.1,ENST00000425764.1,ENST00000450756.1
exon_skip_444521	5	137506726:137506849:137507049:137507099:137513259:137513356	137507049:137507099	ENSG00000112983.13	ENST00000512140.1,ENST00000455658.2
exon_skip_444522	5	137507049:137507099:137507753:137507823:137513259:137513356	137507753:137507823	ENSG00000112983.13	ENST00000254900.5,ENST00000441656.1,ENST00000454473.1,ENST00000418329.1,ENST00000230901.5,ENST00000402931.1,ENST00000411594.2,ENST00000432618.1,ENST00000425764.1,ENST00000515254.1
exon_skip_444524	5	137507754:137507823:137508408:137508515:137513259:137513356	137508408:137508515	ENSG00000112983.13	ENST00000450756.1
exon_skip_444525	5	137507754:137507823:137508408:137508540:137513259:137513356	137508408:137508540	ENSG00000112983.13	ENST00000430331.1
exon_skip_444526	5	137507753:137507823:137513254:137513356:137514284:137514288	137513254:137513356	ENSG00000112983.13	ENST00000428808.1
exon_skip_444527	5	137507753:137507823:137513259:137513356:137514284:137514288	137513259:137513356	ENSG00000112983.13	ENST00000454473.1,ENST00000418329.1,ENST00000230901.5,ENST00000402931.1,ENST00000411594.2,ENST00000432618.1,ENST00000425764.1,ENST00000515254.1

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 BRD8

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
ENST00000254900	137499775	137499822	Frame-shift
ENST00000254900	137507753	137507823	Frame-shift
ENST00000254900	137495243	137495288	In-frame
ENST00000254900	137497484	137497553	In-frame
ENST00000254900	137497742	137497835	In-frame
ENST00000254900	137500402	137500855	In-frame
ENST00000254900	137502206	137502416	In-frame
ENST00000254900	137506520	137506601	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
ENST00000254900	137499775	137499822	Frame-shift
ENST00000254900	137507753	137507823	Frame-shift
ENST00000254900	137495243	137495288	In-frame
ENST00000254900	137497484	137497553	In-frame
ENST00000254900	137497742	137497835	In-frame
ENST00000254900	137500402	137500855	In-frame
ENST00000254900	137502206	137502416	In-frame
ENST00000254900	137506520	137506601	In-frame

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Infer the effects of exon skipping event on protein functional features for BRD8

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
ENST00000254900	4405	1235	137506520	137506601	732	812	120	146
ENST00000254900	4405	1235	137502206	137502416	1160	1369	262	332
ENST00000254900	4405	1235	137500402	137500855	1651	2103	426	577
ENST00000254900	4405	1235	137497742	137497835	2460	2552	696	726
ENST00000254900	4405	1235	137497484	137497553	2553	2621	727	749
ENST00000254900	4405	1235	137495243	137495288	2905	2949	844	859

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
ENST00000254900	4405	1235	137506520	137506601	732	812	120	146
ENST00000254900	4405	1235	137502206	137502416	1160	1369	262	332
ENST00000254900	4405	1235	137500402	137500855	1651	2103	426	577
ENST00000254900	4405	1235	137497742	137497835	2460	2552	696	726
ENST00000254900	4405	1235	137497484	137497553	2553	2621	727	749
ENST00000254900	4405	1235	137495243	137495288	2905	2949	844	859

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
Q9H0E9	120	146	1	147	Alternative sequence	ID=VSP_012879;Note=In isoform 3. MATGTGKHKLLSTGPTEPWSIREKLCLASSVMRSGDQNWVSVSRAIKPFAEPGRPPDWFSQKHCASQYSELLETTETPKRKRGEKGEVVETVEDVIVRKLTAERVEELKKVIKETQERYRRLKRDAELIQAGHMDSRLDELCNDIAT->MSFAMTL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8611617;Dbx
Q9H0E9	120	146	1	1235	Chain	ID=PRO_0000211185;Note=Bromodomain-containing protein 8
Q9H0E9	120	146	97	171	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H0E9	262	332	263	332	Alternative sequence	ID=VSP_023187;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
Q9H0E9	262	332	263	301	Alternative sequence	ID=VSP_012881;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8611617;Dbxref=PMID:8611617
Q9H0E9	262	332	1	1235	Chain	ID=PRO_0000211185;Note=Bromodomain-containing protein 8
Q9H0E9	262	332	306	306	Sequence conflict	Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9H0E9	426	577	1	1235	Chain	ID=PRO_0000211185;Note=Bromodomain-containing protein 8
Q9H0E9	426	577	469	469	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
Q9H0E9	426	577	481	481	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:25114211;Dbxref=PMID:25114211
Q9H0E9	426	577	481	481	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25114211,ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:25755297,E
Q9H0E9	426	577	509	509	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
Q9H0E9	426	577	575	575	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
Q9H0E9	426	577	481	481	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q9H0E9	426	577	490	490	Natural variant	ID=VAR_030695;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.3;Dbxref=dbSNP:rs11750814
Q9H0E9	426	577	557	557	Sequence conflict	Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9H0E9	426	577	557	557	Sequence conflict	Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9H0E9	696	726	1	1235	Chain	ID=PRO_0000211185;Note=Bromodomain-containing protein 8
Q9H0E9	696	726	724	794	Domain	Note=Bromo 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00035
Q9H0E9	727	749	1	1235	Chain	ID=PRO_0000211185;Note=Bromodomain-containing protein 8
Q9H0E9	727	749	724	794	Domain	Note=Bromo 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00035
Q9H0E9	844	859	845	859	Alternative sequence	ID=VSP_012882;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8611617;Dbxref=PMID:8611617
Q9H0E9	844	859	846	846	Alternative sequence	ID=VSP_023188;Note=In isoform 4. S->G;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
Q9H0E9	844	859	847	975	Alternative sequence	ID=VSP_023189;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
Q9H0E9	844	859	1	1235	Chain	ID=PRO_0000211185;Note=Bromodomain-containing protein 8

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
Q9H0E9	120	146	1	147	Alternative sequence	ID=VSP_012879;Note=In isoform 3. MATGTGKHKLLSTGPTEPWSIREKLCLASSVMRSGDQNWVSVSRAIKPFAEPGRPPDWFSQKHCASQYSELLETTETPKRKRGEKGEVVETVEDVIVRKLTAERVEELKKVIKETQERYRRLKRDAELIQAGHMDSRLDELCNDIAT->MSFAMTL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8611617;Dbx
Q9H0E9	120	146	1	1235	Chain	ID=PRO_0000211185;Note=Bromodomain-containing protein 8
Q9H0E9	120	146	97	171	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H0E9	262	332	263	332	Alternative sequence	ID=VSP_023187;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
Q9H0E9	262	332	263	301	Alternative sequence	ID=VSP_012881;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8611617;Dbxref=PMID:8611617
Q9H0E9	262	332	1	1235	Chain	ID=PRO_0000211185;Note=Bromodomain-containing protein 8
Q9H0E9	262	332	306	306	Sequence conflict	Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9H0E9	426	577	1	1235	Chain	ID=PRO_0000211185;Note=Bromodomain-containing protein 8
Q9H0E9	426	577	469	469	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
Q9H0E9	426	577	481	481	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:25114211;Dbxref=PMID:25114211
Q9H0E9	426	577	481	481	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25114211,ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:25755297,E
Q9H0E9	426	577	509	509	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
Q9H0E9	426	577	575	575	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
Q9H0E9	426	577	481	481	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q9H0E9	426	577	490	490	Natural variant	ID=VAR_030695;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.3;Dbxref=dbSNP:rs11750814
Q9H0E9	426	577	557	557	Sequence conflict	Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9H0E9	426	577	557	557	Sequence conflict	Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9H0E9	696	726	1	1235	Chain	ID=PRO_0000211185;Note=Bromodomain-containing protein 8
Q9H0E9	696	726	724	794	Domain	Note=Bromo 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00035
Q9H0E9	727	749	1	1235	Chain	ID=PRO_0000211185;Note=Bromodomain-containing protein 8
Q9H0E9	727	749	724	794	Domain	Note=Bromo 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00035
Q9H0E9	844	859	845	859	Alternative sequence	ID=VSP_012882;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8611617;Dbxref=PMID:8611617
Q9H0E9	844	859	846	846	Alternative sequence	ID=VSP_023188;Note=In isoform 4. S->G;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
Q9H0E9	844	859	847	975	Alternative sequence	ID=VSP_023189;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
Q9H0E9	844	859	1	1235	Chain	ID=PRO_0000211185;Note=Bromodomain-containing protein 8

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SNVs in the skipped exons for BRD8

- 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.

- 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-A3A0-01	exon_skip_444499 exon_skip_444502	137499776	137499822	137499812	137499812	Frame_Shift_Del	T	-	p.K612fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_444516	137504159	137504377	137504219	137504219	Frame_Shift_Del	G	-	p.P267fs
LIHC	TCGA-BC-A112-01	exon_skip_444505	137500403	137500855	137500563	137500564	Frame_Shift_Ins	-	T	p.S524fs
LIHC	TCGA-BC-A112-01	exon_skip_444505	137500403	137500855	137500759	137500760	Frame_Shift_Ins	-	G	p.PG458fs
LIHC	TCGA-BC-A112-01	exon_skip_444505	137500403	137500855	137500787	137500788	Frame_Shift_Ins	-	T	p.R449fs
UCEC	TCGA-AP-A0LM-01	exon_skip_444491	137497743	137497835	137497813	137497813	Nonsense_Mutation	C	A	p.E704*
SKCM	TCGA-QB-AA9O-06	exon_skip_444521	137507050	137507099	137507087	137507087	Nonsense_Mutation	G	A	p.Q67*
CESC	TCGA-Q1-A73O-01	exon_skip_444527	137513260	137513356	137513280	137513280	Nonsense_Mutation	C	A	p.E15*
SKCM	TCGA-EE-A3AF-06	exon_skip_444488	137497485	137497553	137497483	137497483	Splice_Site	A	C	.

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

Depth of coverage in three exons

Mutation description

- 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
SNU1040_LARGE_INTESTINE	137497743	137497835	137497815	137497815	Missense_Mutation	T	G	p.Q703P
HEC151_ENDOMETRIUM	137500403	137500855	137500417	137500417	Missense_Mutation	T	A	p.N573Y
NB1643_AUTONOMIC_GANGLIA	137500403	137500855	137500465	137500465	Missense_Mutation	C	T	p.V557I
KM12_LARGE_INTESTINE	137500403	137500855	137500524	137500524	Missense_Mutation	G	A	p.P537L
MKN74_STOMACH	137500403	137500855	137500564	137500564	Missense_Mutation	T	C	p.I524V
MKN28_STOMACH	137500403	137500855	137500564	137500564	Missense_Mutation	T	C	p.I524V
DJM1_SKIN	137500403	137500855	137500623	137500623	Missense_Mutation	G	C	p.P504R
FTC133_THYROID	137500403	137500855	137500650	137500650	Missense_Mutation	A	T	p.I495K
SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	137500403	137500855	137500662	137500662	Missense_Mutation	T	C	p.E491G
IALM_LUNG	137502207	137502416	137502330	137502330	Missense_Mutation	G	T	p.P292T
JHUEM2_ENDOMETRIUM	137502207	137502416	137502336	137502336	Missense_Mutation	T	C	p.S290G
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	137502207	137502416	137502357	137502357	Missense_Mutation	C	G	p.A283P
COV318_OVARY	137503623	137503767	137503681	137503681	Missense_Mutation	T	C	p.I243M
LB831BLC_URINARY_TRACT	137503623	137503767	137503686	137503686	Missense_Mutation	T	C	p.M242V
HEC1A_ENDOMETRIUM	137507050	137507099	137507093	137507093	Missense_Mutation	C	T	p.A65T
HEC1_ENDOMETRIUM	137507050	137507099	137507093	137507093	Missense_Mutation	C	T	p.A65T
HEC1B_ENDOMETRIUM	137507050	137507099	137507093	137507093	Missense_Mutation	C	T	p.A65T
SNU520_STOMACH	137507754	137507823	137507779	137507779	Missense_Mutation	C	T	p.R54H
PEO1_OVARY	137497485	137497553	137497552	137497552	Splice_Site	A	G	p.Y728H

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BRD8

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
exon_skip_444479	5	137492610:137492956:137493330:137493583:137495243:137495288	137493330:137493583	ENST00000472478.2	BRCA	rs17171767	chr5:137493528	C/T	4.20e-10
exon_skip_444479	5	137492610:137492956:137493330:137493583:137495243:137495288	137493330:137493583	ENST00000472478.2	BRCA	rs17171767	chr5:137493528	C/T	4.25e-10
exon_skip_444479	5	137492610:137492956:137493330:137493583:137495243:137495288	137493330:137493583	ENST00000472478.2	BRCA	rs17171767	chr5:137493528	C/T	2.20e-03
exon_skip_444479	5	137492610:137492956:137493330:137493583:137495243:137495288	137493330:137493583	ENST00000472478.2	LGG	rs17171767	chr5:137493528	C/T	5.15e-05
exon_skip_444479	5	137492610:137492956:137493330:137493583:137495243:137495288	137493330:137493583	ENST00000472478.2	LGG	rs17171767	chr5:137493528	C/T	5.18e-05
exon_skip_444479	5	137492610:137492956:137493330:137493583:137495243:137495288	137493330:137493583	ENST00000472478.2	LGG	rs17171767	chr5:137493528	C/T	1.83e-04
exon_skip_444479	5	137492610:137492956:137493330:137493583:137495243:137495288	137493330:137493583	ENST00000472478.2	TGCT	rs17171767	chr5:137493528	C/T	1.97e-04
exon_skip_444479	5	137492610:137492956:137493330:137493583:137495243:137495288	137493330:137493583	ENST00000472478.2	TGCT	rs17171767	chr5:137493528	C/T	2.02e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BRD8

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BRD8

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RelatedDrugs for BRD8

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 BRD8

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
BRD8	C0014175	Endometriosis	1	CTD_human

	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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