ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for BDP1

Gene summary

Gene information	Gene symbol	BDP1
	Gene ID	55814
	Gene name	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB
	Synonyms	HSA238520\|TAF3B1\|TFC5\|TFIIIB''\|TFIIIB150\|TFIIIB90\|TFNR
	Cytomap	5q13.2
	Type of gene	protein-coding
	Description	transcription factor TFIIIB component B'' homologRNA polymerase III transcription initiation factor B''TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1transcription factor IIIB 150transcription factor-like nuclear
	Modification date	20180523
	UniProtAcc	A6H8Y1
	Context	PubMed: BDP1 [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

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Exon skipping events across known transcript of Ensembl for BDP1 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 BDP1

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 BDP1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_435405	5	70754405:70754682:70757643:70757753:70759884:70759944	70757643:70757753	ENSG00000145734.14	ENST00000508917.2,ENST00000358731.4,ENST00000380675.2
exon_skip_435406	5	70763180:70763314:70766221:70766316:70779668:70779723	70766221:70766316	ENSG00000145734.14	ENST00000508917.2,ENST00000358731.4,ENST00000380675.2
exon_skip_435407	5	70766221:70766316:70779668:70779723:70782310:70782454	70779668:70779723	ENSG00000145734.14	ENST00000508917.2,ENST00000358731.4,ENST00000380675.2
exon_skip_435409	5	70779668:70779723:70782310:70782454:70785230:70785509	70782310:70782454	ENSG00000145734.14	ENST00000508917.2,ENST00000358731.4,ENST00000380675.2
exon_skip_435413	5	70785230:70785509:70786810:70786958:70791076:70791235	70786810:70786958	ENSG00000145734.14	ENST00000508917.2,ENST00000358731.4,ENST00000380675.2
exon_skip_435414	5	70791076:70791235:70793096:70793253:70797388:70797480	70793096:70793253	ENSG00000145734.14	ENST00000508917.2,ENST00000358731.4,ENST00000380675.2,ENST00000508157.3
exon_skip_435418	5	70793096:70793253:70797388:70797480:70798425:70798618	70797388:70797480	ENSG00000145734.14	ENST00000508917.2,ENST00000358731.4,ENST00000380675.2,ENST00000508157.3
exon_skip_435419	5	70797388:70797480:70798425:70798618:70800447:70800578	70798425:70798618	ENSG00000145734.14	ENST00000508917.2,ENST00000358731.4,ENST00000380675.2,ENST00000508157.3
exon_skip_435420	5	70800447:70800578:70805291:70806978:70808067:70808255	70805291:70806978	ENSG00000145734.14	ENST00000508917.2,ENST00000358731.4,ENST00000380675.2
exon_skip_435422	5	70808067:70808255:70809011:70809234:70810770:70810949	70809011:70809234	ENSG00000145734.14	ENST00000508917.2,ENST00000358731.4,ENST00000380675.2
exon_skip_435424	5	70834868:70834905:70835383:70835476:70837283:70837509	70835383:70835476	ENSG00000145734.14	ENST00000514903.3,ENST00000380675.2
exon_skip_435426	5	70837931:70838092:70840183:70840334:70840865:70841046	70840183:70840334	ENSG00000145734.14	ENST00000525844.1,ENST00000508917.2,ENST00000514903.3,ENST00000358731.4,ENST00000380675.2
exon_skip_435431	5	70840189:70840334:70840865:70841046:70844508:70844572	70840865:70841046	ENSG00000145734.14	ENST00000525844.1,ENST00000514903.3,ENST00000358731.4,ENST00000380675.2
exon_skip_435434	5	70844508:70844572:70845246:70845433:70848942:70849147	70845246:70845433	ENSG00000145734.14	ENST00000525844.1,ENST00000358731.4
exon_skip_435437	5	70844508:70844572:70848942:70849147:70852712:70852752	70848942:70849147	ENSG00000145734.14	ENST00000514903.3,ENST00000380675.2
exon_skip_435439	5	70848942:70849147:70852712:70852752:70855808:70856064	70852712:70852752	ENSG00000145734.14	ENST00000525844.1,ENST00000514903.3,ENST00000358731.4,ENST00000380675.2
exon_skip_435440	5	70855808:70856064:70858100:70858347:70860580:70863647	70858100:70858347	ENSG00000145734.14	ENST00000358731.4,ENST00000380675.2
exon_skip_435442	5	70858100:70858347:70858601:70858722:70860580:70863647	70858601:70858722	ENSG00000145734.14	ENST00000525844.1,ENST00000514903.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for BDP1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_435405	5	70754405:70754682:70757643:70757753:70759884:70759944	70757643:70757753	ENSG00000145734.14	ENST00000358731.4,ENST00000380675.2,ENST00000508917.2
exon_skip_435406	5	70763180:70763314:70766221:70766316:70779668:70779723	70766221:70766316	ENSG00000145734.14	ENST00000358731.4,ENST00000380675.2,ENST00000508917.2
exon_skip_435407	5	70766221:70766316:70779668:70779723:70782310:70782454	70779668:70779723	ENSG00000145734.14	ENST00000358731.4,ENST00000380675.2,ENST00000508917.2
exon_skip_435409	5	70779668:70779723:70782310:70782454:70785230:70785509	70782310:70782454	ENSG00000145734.14	ENST00000358731.4,ENST00000380675.2,ENST00000508917.2
exon_skip_435413	5	70785230:70785509:70786810:70786958:70791076:70791235	70786810:70786958	ENSG00000145734.14	ENST00000358731.4,ENST00000380675.2,ENST00000508917.2
exon_skip_435414	5	70791076:70791235:70793096:70793253:70797388:70797480	70793096:70793253	ENSG00000145734.14	ENST00000358731.4,ENST00000380675.2,ENST00000508917.2,ENST00000508157.3
exon_skip_435418	5	70793096:70793253:70797388:70797480:70798425:70798618	70797388:70797480	ENSG00000145734.14	ENST00000358731.4,ENST00000380675.2,ENST00000508917.2,ENST00000508157.3
exon_skip_435419	5	70797388:70797480:70798425:70798618:70800447:70800578	70798425:70798618	ENSG00000145734.14	ENST00000358731.4,ENST00000380675.2,ENST00000508917.2,ENST00000508157.3
exon_skip_435420	5	70800447:70800578:70805291:70806978:70808067:70808255	70805291:70806978	ENSG00000145734.14	ENST00000358731.4,ENST00000380675.2,ENST00000508917.2
exon_skip_435422	5	70808067:70808255:70809011:70809234:70810770:70810949	70809011:70809234	ENSG00000145734.14	ENST00000358731.4,ENST00000380675.2,ENST00000508917.2
exon_skip_435424	5	70834868:70834905:70835383:70835476:70837283:70837509	70835383:70835476	ENSG00000145734.14	ENST00000380675.2,ENST00000514903.3
exon_skip_435426	5	70837931:70838092:70840183:70840334:70840865:70841046	70840183:70840334	ENSG00000145734.14	ENST00000358731.4,ENST00000380675.2,ENST00000508917.2,ENST00000514903.3,ENST00000525844.1
exon_skip_435431	5	70840189:70840334:70840865:70841046:70844508:70844572	70840865:70841046	ENSG00000145734.14	ENST00000358731.4,ENST00000380675.2,ENST00000514903.3,ENST00000525844.1
exon_skip_435434	5	70844508:70844572:70845246:70845433:70848942:70849147	70845246:70845433	ENSG00000145734.14	ENST00000358731.4,ENST00000525844.1
exon_skip_435437	5	70844508:70844572:70848942:70849147:70852712:70852752	70848942:70849147	ENSG00000145734.14	ENST00000380675.2,ENST00000514903.3
exon_skip_435439	5	70848942:70849147:70852712:70852752:70855808:70856064	70852712:70852752	ENSG00000145734.14	ENST00000358731.4,ENST00000380675.2,ENST00000514903.3,ENST00000525844.1
exon_skip_435440	5	70855808:70856064:70858100:70858347:70860580:70863647	70858100:70858347	ENSG00000145734.14	ENST00000358731.4,ENST00000380675.2
exon_skip_435442	5	70858100:70858347:70858601:70858722:70860580:70863647	70858601:70858722	ENSG00000145734.14	ENST00000514903.3,ENST00000525844.1

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 BDP1

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

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

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Infer the effects of exon skipping event on protein functional features for BDP1

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

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

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

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

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SNVs in the skipped exons for BDP1

- 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
COAD	TCGA-F4-6856-01	exon_skip_435405	70757644	70757753	70757681	70757682	Frame_Shift_Del	AG	-	p.176_176del
KICH	TCGA-KL-8329-01	exon_skip_435406	70766222	70766316	70766233	70766233	Frame_Shift_Del	T	-	p.F311fs
STAD	TCGA-R5-A7ZI-01	exon_skip_435406	70766222	70766316	70766233	70766233	Frame_Shift_Del	T	-	p.F312fs
UCEC	TCGA-B5-A0JR-01	exon_skip_435406	70766222	70766316	70766233	70766233	Frame_Shift_Del	T	-	p.F311fs
UCEC	TCGA-BS-A0UL-01	exon_skip_435406	70766222	70766316	70766233	70766233	Frame_Shift_Del	T	-	p.F311fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_435407	70779669	70779723	70779672	70779672	Frame_Shift_Del	A	-	p.K340fs
LIHC	TCGA-DD-A39Y-01	exon_skip_435409	70782311	70782454	70782336	70782336	Frame_Shift_Del	T	-	p.D365fs
STAD	TCGA-HU-A4GQ-01	exon_skip_435409	70782311	70782454	70782336	70782336	Frame_Shift_Del	T	-	p.D365fs
LIHC	TCGA-DD-A3A0-01	exon_skip_435413	70786811	70786958	70786919	70786919	Frame_Shift_Del	A	-	p.E534fs
LIHC	TCGA-DD-A39Y-01	exon_skip_435413	70786811	70786958	70786947	70786947	Frame_Shift_Del	C	-	p.I543fs
LIHC	TCGA-DD-A1EG-01	exon_skip_435414	70793097	70793253	70793122	70793122	Frame_Shift_Del	A	-	p.K609fs
LIHC	TCGA-DD-A1EG-01	exon_skip_435419	70798426	70798618	70798434	70798434	Frame_Shift_Del	A	-	p.E686fs
LIHC	TCGA-DD-A3A1-01	exon_skip_435419	70798426	70798618	70798465	70798465	Frame_Shift_Del	A	-	p.L696fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_435419	70798426	70798618	70798491	70798491	Frame_Shift_Del	G	-	p.R705fs
LIHC	TCGA-DD-A39Y-01	exon_skip_435419	70798426	70798618	70798503	70798503	Frame_Shift_Del	A	-	p.Q709fs
LIHC	TCGA-DD-A3A1-01	exon_skip_435419	70798426	70798618	70798536	70798536	Frame_Shift_Del	A	-	p.E720fs
THYM	TCGA-ZB-A966-01	exon_skip_435420	70805292	70806978	70805889	70805889	Frame_Shift_Del	A	-	p.I992fs
THYM	TCGA-ZB-A966-01	exon_skip_435420	70805292	70806978	70805889	70805889	Frame_Shift_Del	A	-	p.R990fs
STAD	TCGA-BR-8591-01	exon_skip_435420	70805292	70806978	70805906	70805906	Frame_Shift_Del	A	-	p.E996fs
LIHC	TCGA-DD-A1EG-01	exon_skip_435420	70805292	70806978	70806263	70806263	Frame_Shift_Del	A	-	p.Q1115fs
LIHC	TCGA-DD-A39Y-01	exon_skip_435420	70805292	70806978	70806693	70806693	Frame_Shift_Del	A	-	p.G1258fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_435420	70805292	70806978	70806777	70806777	Frame_Shift_Del	A	-	p.G1286fs
LIHC	TCGA-DD-A1EG-01	exon_skip_435420	70805292	70806978	70806818	70806818	Frame_Shift_Del	T	-	p.V1300fs
STAD	TCGA-CG-5723-01	exon_skip_435420	70805292	70806978	70806878	70806878	Frame_Shift_Del	A	-	p.E1320fs
LIHC	TCGA-DD-A1EG-01	exon_skip_435434	70845247	70845433	70845286	70845286	Frame_Shift_Del	A	-	p.E2283fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_435434	70845247	70845433	70845368	70845368	Frame_Shift_Del	A	-	p.P2310fs
LIHC	TCGA-DD-A39Y-01	exon_skip_435440	70858101	70858347	70858114	70858114	Frame_Shift_Del	C	-	p.P2504fs
ACC	TCGA-OR-A5LJ-01	exon_skip_435440	70858101	70858347	70858262	70858262	Frame_Shift_Del	A	-	p.E2553fs
BRCA	TCGA-BH-A1F8-01	exon_skip_435406	70766222	70766316	70766232	70766233	Frame_Shift_Ins	-	T	p.L312fs
COAD	TCGA-AU-6004-01	exon_skip_435406	70766222	70766316	70766232	70766233	Frame_Shift_Ins	-	T	p.M310fs
ESCA	TCGA-L5-A4OI-01	exon_skip_435406	70766222	70766316	70766232	70766233	Frame_Shift_Ins	-	T	p.IF310fs
ESCA	TCGA-L5-A4OI-01	exon_skip_435406	70766222	70766316	70766232	70766233	Frame_Shift_Ins	-	T	p.L312fs
ESCA	TCGA-L5-A4OI-01	exon_skip_435406	70766222	70766316	70766232	70766233	Frame_Shift_Ins	-	T	p.M310fs
ESCA	TCGA-L5-A4OJ-01	exon_skip_435406	70766222	70766316	70766232	70766233	Frame_Shift_Ins	-	T	p.L312fs
UCEC	TCGA-E6-A1LZ-01	exon_skip_435420	70805292	70806978	70805967	70805968	Frame_Shift_Ins	-	AG	p.S1018fs
KIRC	TCGA-B0-4811-01	exon_skip_435420	70805292	70806978	70806528	70806529	Frame_Shift_Ins	-	G	p.T1203fs
KIRC	TCGA-B0-4811-01	exon_skip_435420	70805292	70806978	70806530	70806531	Frame_Shift_Ins	-	AG	p.E1204fs
ESCA	TCGA-L5-A8NS-01	exon_skip_435409	70782311	70782454	70782418	70782418	Nonsense_Mutation	G	T	p.E393*
ESCA	TCGA-L5-A8NS-01	exon_skip_435409	70782311	70782454	70782418	70782418	Nonsense_Mutation	G	T	p.E393X
LUAD	TCGA-55-6968-01	exon_skip_435414	70793097	70793253	70793168	70793168	Nonsense_Mutation	C	G	p.S624*
LUAD	TCGA-17-Z031-01	exon_skip_435418	70797389	70797480	70797398	70797398	Nonsense_Mutation	G	T	p.E656*
UCEC	TCGA-AX-A05Z-01	exon_skip_435440	70858101	70858347	70858142	70858142	Nonsense_Mutation	C	A	p.S2513*
BRCA	TCGA-D8-A1Y1-01	exon_skip_435440	70858101	70858347	70858270	70858270	Nonsense_Mutation	C	T	p.R2556*
LUAD	TCGA-86-8674-01	exon_skip_435440	70858101	70858347	70858315	70858315	Nonsense_Mutation	C	T	p.Q2571*
THCA	TCGA-FK-A3SG-01	exon_skip_435440	70858101	70858347	70858315	70858315	Nonsense_Mutation	C	T	p.Q2571*
THCA	TCGA-FK-A3SG-01	exon_skip_435440	70858101	70858347	70858315	70858315	Nonsense_Mutation	C	T	p.Q2571X
UCEC	TCGA-AX-A0J1-01	exon_skip_435405	70757644	70757753	70757754	70757754	Splice_Site	G	A	e3+1
BLCA	TCGA-CF-A1HS-01	exon_skip_435413	70786811	70786958	70786810	70786810	Splice_Site	G	C	p.N498_splice

- 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
SNU175_LARGE_INTESTINE	70782311	70782454	70782336	70782336	Frame_Shift_Del	T	-	p.D365fs
HEC59_ENDOMETRIUM	70797389	70797480	70797445	70797446	Frame_Shift_Del	AG	-	p.E672fs
HEC59_ENDOMETRIUM	70805292	70806978	70805968	70805969	Frame_Shift_Del	AG	-	p.R1017fs
CW2_LARGE_INTESTINE	70805292	70806978	70806053	70806053	Frame_Shift_Del	C	-	p.S1045fs
HCT116_LARGE_INTESTINE	70809012	70809234	70809141	70809142	Frame_Shift_Del	AT	-	p.Y1460fs
EN_ENDOMETRIUM	70766222	70766316	70766232	70766233	Frame_Shift_Ins	-	T	p.F311fs
AN3CA_ENDOMETRIUM	70797389	70797480	70797444	70797445	Frame_Shift_Ins	-	AG	p.TE671fs
CW2_LARGE_INTESTINE	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
CAPAN1_PANCREAS	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
CL34_LARGE_INTESTINE	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
HCC1171_LUNG	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
HNT34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
HS616T_FIBROBLAST	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
JHH7_LIVER	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
JVM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
LCLC97TM1_LUNG	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
MV411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
NCIH1975_LUNG	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
OCUM1_STOMACH	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
PLB985_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
SKNBE2_AUTONOMIC_GANGLIA	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
T24_URINARY_TRACT	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
T3M4_PANCREAS	70858101	70858347	70858261	70858262	Frame_Shift_Ins	-	A	p.E2553fs
CCK81_LARGE_INTESTINE	70757644	70757753	70757686	70757686	Missense_Mutation	C	T	p.P178S
HEC108_ENDOMETRIUM	70757644	70757753	70757750	70757750	Missense_Mutation	T	C	p.M199T
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70766222	70766316	70766246	70766246	Missense_Mutation	T	C	p.I315T
HEC251_ENDOMETRIUM	70782311	70782454	70782316	70782316	Missense_Mutation	A	C	p.K359Q
PACADD137_PANCREAS	70782311	70782454	70782320	70782320	Missense_Mutation	G	A	p.R360H
HS695T_SKIN	70782311	70782454	70782323	70782323	Missense_Mutation	C	T	p.P361L
KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70782311	70782454	70782417	70782417	Missense_Mutation	G	T	p.K392N
ZR751_BREAST	70786811	70786958	70786825	70786825	Missense_Mutation	A	G	p.I503V
YMB1E_BREAST	70786811	70786958	70786825	70786825	Missense_Mutation	A	G	p.I503V
MFE319_ENDOMETRIUM	70786811	70786958	70786949	70786949	Missense_Mutation	T	C	p.L544P
SBC5_LUNG	70793097	70793253	70793108	70793108	Missense_Mutation	A	G	p.Q604R
SNU201_CENTRAL_NERVOUS_SYSTEM	70793097	70793253	70793128	70793128	Missense_Mutation	A	G	p.M611V
SCC25_UPPER_AERODIGESTIVE_TRACT	70793097	70793253	70793128	70793128	Missense_Mutation	A	G	p.M611V
RPMI6666_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70793097	70793253	70793170	70793170	Missense_Mutation	A	G	p.R625G
LNCAPCLONEFGC_PROSTATE	70793097	70793253	70793186	70793186	Missense_Mutation	C	T	p.S630L
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70793097	70793253	70793207	70793207	Missense_Mutation	C	T	p.T637I
NH6_AUTONOMIC_GANGLIA	70797389	70797480	70797454	70797454	Missense_Mutation	G	T	p.E674D
NCIH2286_LUNG	70797389	70797480	70797458	70797459	Missense_Mutation	CC	GT	p.P676V
NCIH2286_LUNG	70797389	70797480	70797458	70797458	Missense_Mutation	C	G	p.P676A
NCIH2286_LUNG	70797389	70797480	70797459	70797459	Missense_Mutation	C	T	p.P676L
SALE_LUNG	70798426	70798618	70798535	70798535	Missense_Mutation	G	A	p.E720K
SW756_CERVIX	70798426	70798618	70798616	70798616	Missense_Mutation	G	C	p.D747H
HEC59_ENDOMETRIUM	70805292	70806978	70805308	70805308	Missense_Mutation	A	G	p.K797E
D542MG_CENTRAL_NERVOUS_SYSTEM	70805292	70806978	70805366	70805366	Missense_Mutation	C	G	p.P816R
L542_MATCHED_NORMAL_TISSUE	70805292	70806978	70805366	70805366	Missense_Mutation	C	G	p.P816R
KYSE180_OESOPHAGUS	70805292	70806978	70805452	70805452	Missense_Mutation	G	A	p.A845T
OVISE_OVARY	70805292	70806978	70805558	70805558	Missense_Mutation	G	C	p.R880T
OCILY132_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70805292	70806978	70805594	70805594	Missense_Mutation	T	C	p.I892T
KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70805292	70806978	70805630	70805630	Missense_Mutation	C	T	p.A904V
CW2_LARGE_INTESTINE	70805292	70806978	70805732	70805732	Missense_Mutation	C	T	p.S938F
DMS454_LUNG	70805292	70806978	70805779	70805779	Missense_Mutation	G	C	p.E954Q
HDQP1_BREAST	70805292	70806978	70805835	70805835	Missense_Mutation	G	C	p.E972D
PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70805292	70806978	70805843	70805843	Missense_Mutation	A	T	p.D975V
MKN45_STOMACH	70805292	70806978	70805843	70805843	Missense_Mutation	A	T	p.D975V
NKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70805292	70806978	70805843	70805843	Missense_Mutation	A	T	p.D975V
JHUEM7_ENDOMETRIUM	70805292	70806978	70805866	70805866	Missense_Mutation	A	C	p.N983H
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70805292	70806978	70805895	70805895	Missense_Mutation	A	G	p.I992M
SNUC4_LARGE_INTESTINE	70805292	70806978	70805912	70805912	Missense_Mutation	G	A	p.G998D
HEC59_ENDOMETRIUM	70805292	70806978	70805915	70805915	Missense_Mutation	C	A	p.P999Q
GRANTA519_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70805292	70806978	70805928	70805928	Missense_Mutation	G	T	p.K1003N
HT115_LARGE_INTESTINE	70805292	70806978	70806063	70806063	Missense_Mutation	A	C	p.E1048D
CW2_LARGE_INTESTINE	70805292	70806978	70806076	70806076	Missense_Mutation	G	A	p.E1053K
NCIH1568_LUNG	70805292	70806978	70806147	70806147	Missense_Mutation	G	T	p.K1076N
NCIH740_LUNG	70805292	70806978	70806302	70806302	Missense_Mutation	G	T	p.R1128M
MS1_SKIN	70805292	70806978	70806449	70806449	Missense_Mutation	G	A	p.G1177E
MS1_LUNG	70805292	70806978	70806449	70806449	Missense_Mutation	G	A	p.G1177E
HEC265_ENDOMETRIUM	70805292	70806978	70806491	70806491	Missense_Mutation	A	G	p.D1191G
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70805292	70806978	70806557	70806557	Missense_Mutation	G	A	p.G1213D
SW48_LARGE_INTESTINE	70805292	70806978	70806636	70806636	Missense_Mutation	G	T	p.K1239N
NCIH187_LUNG	70805292	70806978	70806905	70806905	Missense_Mutation	C	T	p.S1329L
NCIH2122_LUNG	70805292	70806978	70806970	70806970	Missense_Mutation	G	C	p.D1351H
NCIBL2122_MATCHED_NORMAL_TISSUE	70805292	70806978	70806970	70806970	Missense_Mutation	G	C	p.D1351H
NCIH2347_LUNG	70809012	70809234	70809069	70809069	Missense_Mutation	G	T	p.R1435S
SNU1040_LARGE_INTESTINE	70809012	70809234	70809191	70809191	Missense_Mutation	T	C	p.M1476T
PCI15A_UPPER_AERODIGESTIVE_TRACT	70809012	70809234	70809199	70809199	Missense_Mutation	A	G	p.N1479D
NCIH2286_LUNG	70840184	70840334	70840230	70840230	Missense_Mutation	C	G	p.N2153K
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70840184	70840334	70840328	70840328	Missense_Mutation	C	A	p.T2186N
KM12_LARGE_INTESTINE	70840866	70841046	70840873	70840873	Missense_Mutation	A	G	p.N2191D
A431_SKIN	70840866	70841046	70840894	70840894	Missense_Mutation	G	C	p.E2198Q
ES6_BONE	70840866	70841046	70840919	70840919	Missense_Mutation	C	T	p.P2206L
HT115_LARGE_INTESTINE	70840866	70841046	70841041	70841041	Missense_Mutation	C	G	p.P2247A
EN_ENDOMETRIUM	70845247	70845433	70845351	70845351	Missense_Mutation	A	T	p.T2305S
HEC6_ENDOMETRIUM	70845247	70845433	70845422	70845422	Missense_Mutation	G	T	p.R2328S
NCIH2405_LUNG	70848943	70849147	70849082	70849082	Missense_Mutation	C	T	p.H2379Y
SUPT11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70848943	70849147	70849089	70849089	Missense_Mutation	C	T	p.P2381L
HCC2998_LARGE_INTESTINE	70852713	70852752	70852731	70852731	Missense_Mutation	A	G	p.T2407A
HCC2998_LARGE_INTESTINE	70793097	70793253	70793228	70793228	Nonsense_Mutation	C	A	p.S644*
OVMANA_OVARY	70805292	70806978	70806478	70806478	Nonsense_Mutation	C	T	p.R1187*
SNU520_STOMACH	70805292	70806978	70806847	70806847	Nonsense_Mutation	C	T	p.Q1310*
CP66MEL_SKIN	70809012	70809234	70809073	70809073	Nonsense_Mutation	C	T	p.R1437*
DBTRG05MG_CENTRAL_NERVOUS_SYSTEM	70848943	70849147	70848944	70848944	Splice_Site	A	G	p.I2333V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BDP1

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 BDP1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BDP1

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RelatedDrugs for BDP1

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 BDP1

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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Gene summary for BDP1

Exon skipping events across known transcript of Ensembl for BDP1 from UCSC genome browser

Gene isoform structures and expression levels for BDP1

Exon skipping events with PSIs in TCGA for BDP1

Exon skipping events with PSIs in GTEx for BDP1

Open reading frame (ORF) annotation in the exon skipping event for BDP1

Infer the effects of exon skipping event on protein functional features for BDP1

SNVs in the skipped exons for BDP1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BDP1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BDP1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BDP1

RelatedDrugs for BDP1

RelatedDiseases for BDP1