ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TP53BP2

Gene summary

Gene information	Gene symbol	TP53BP2
	Gene ID	7159
	Gene name	tumor protein p53 binding protein 2
	Synonyms	53BP2\|ASPP2\|BBP\|P53BP2\|PPP1R13A
	Cytomap	1q41
	Type of gene	protein-coding
	Description	apoptosis-stimulating of p53 protein 2BCL2-binding proteinapoptosis-stimulating protein of p53, 2renal carcinoma antigen NY-REN-51tumor suppressor p53-binding protein 2
	Modification date	20180523
	UniProtAcc	Q13625
	Context	PubMed: TP53BP2 [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
TP53BP2	GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	11684014

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Exon skipping events across known transcript of Ensembl for TP53BP2 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 TP53BP2

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 TP53BP2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_37318	1	223968490:223968596:223971816:223972016:223976709:223976876	223971816:223972016	ENSG00000143514.12	ENST00000483398.1,ENST00000498843.1,ENST00000343537.7,ENST00000391879.2,ENST00000391878.2
exon_skip_37320	1	223971816:223972016:223976709:223976876:223980090:223980224	223976709:223976876	ENSG00000143514.12	ENST00000483398.1,ENST00000498843.1,ENST00000343537.7,ENST00000391879.2,ENST00000391878.2
exon_skip_37321	1	223983875:223984292:223985916:223986379:223987600:223987749	223985916:223986379	ENSG00000143514.12	ENST00000498843.1,ENST00000343537.7,ENST00000391878.2
exon_skip_37322	1	223985916:223986379:223987600:223987749:223988401:223988428	223987600:223987749	ENSG00000143514.12	ENST00000498843.1,ENST00000343537.7,ENST00000391878.2
exon_skip_37324	1	223990432:223990597:223990972:223991154:223991875:223992050	223990972:223991154	ENSG00000143514.12	ENST00000343537.7,ENST00000391878.2
exon_skip_37326	1	223991936:223992050:223994547:223994649:223998132:223998215	223994547:223994649	ENSG00000143514.12	ENST00000496282.1,ENST00000343537.7,ENST00000494100.1,ENST00000391878.2
exon_skip_37327	1	223994612:223994649:223998132:223998215:224001941:224002030	223998132:223998215	ENSG00000143514.12	ENST00000496282.1,ENST00000473135.1,ENST00000343537.7,ENST00000494100.1,ENST00000391878.2
exon_skip_37329	1	223998165:223998215:224001941:224002055:224008921:224009069	224001941:224002055	ENSG00000143514.12	ENST00000473135.1,ENST00000343537.7
exon_skip_37333	1	224001941:224002055:224005907:224006039:224008921:224009069	224005907:224006039	ENSG00000143514.12	ENST00000391878.2
exon_skip_37335	1	224001941:224002055:224008921:224009069:224033355:224033496	224008921:224009069	ENSG00000143514.12	ENST00000472180.1,ENST00000343537.7

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TP53BP2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_37318	1	223968490:223968596:223971816:223972016:223976709:223976876	223971816:223972016	ENSG00000143514.12	ENST00000391878.2,ENST00000343537.7,ENST00000483398.1,ENST00000391879.2,ENST00000498843.1
exon_skip_37320	1	223971816:223972016:223976709:223976876:223980090:223980224	223976709:223976876	ENSG00000143514.12	ENST00000391878.2,ENST00000343537.7,ENST00000483398.1,ENST00000391879.2,ENST00000498843.1
exon_skip_37321	1	223983875:223984292:223985916:223986379:223987600:223987749	223985916:223986379	ENSG00000143514.12	ENST00000391878.2,ENST00000343537.7,ENST00000498843.1
exon_skip_37322	1	223985916:223986379:223987600:223987749:223988401:223988428	223987600:223987749	ENSG00000143514.12	ENST00000391878.2,ENST00000343537.7,ENST00000498843.1
exon_skip_37324	1	223990432:223990597:223990972:223991154:223991875:223992050	223990972:223991154	ENSG00000143514.12	ENST00000391878.2,ENST00000343537.7
exon_skip_37326	1	223991936:223992050:223994547:223994649:223998132:223998215	223994547:223994649	ENSG00000143514.12	ENST00000391878.2,ENST00000343537.7,ENST00000494100.1,ENST00000496282.1
exon_skip_37327	1	223994612:223994649:223998132:223998215:224001941:224002030	223998132:223998215	ENSG00000143514.12	ENST00000391878.2,ENST00000343537.7,ENST00000494100.1,ENST00000496282.1,ENST00000473135.1
exon_skip_37333	1	224001941:224002055:224005907:224006039:224008921:224009069	224005907:224006039	ENSG00000143514.12	ENST00000391878.2
exon_skip_37335	1	224001941:224002055:224008921:224009069:224033355:224033496	224008921:224009069	ENSG00000143514.12	ENST00000343537.7,ENST00000472180.1

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 TP53BP2

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 TP53BP2

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 TP53BP2

- 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.

TP53BP2_LIHC_exon_skip_37321_psi_boxplot.png
boxplot

TP53BP2_STAD_exon_skip_37318_psi_boxplot.png
boxplot

TP53BP2_STAD_exon_skip_37321_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-A1EG-01	exon_skip_37321	223985917	223986379	223985923	223985923	Frame_Shift_Del	A	-	p.S520fs
LIHC	TCGA-DD-A3A0-01	exon_skip_37321	223985917	223986379	223985982	223985982	Frame_Shift_Del	T	-	p.N499fs
LIHC	TCGA-DD-A3A0-01	exon_skip_37321	223985917	223986379	223986043	223986043	Frame_Shift_Del	G	-	p.Q479fs
LIHC	TCGA-DD-A39Y-01	exon_skip_37321	223985917	223986379	223986085	223986085	Frame_Shift_Del	G	-	p.Q465fs
PRAD	TCGA-M7-A724-01	exon_skip_37321	223985917	223986379	223986326	223986326	Frame_Shift_Del	T	-	p.K384fs
LIHC	TCGA-DD-A3A1-01	exon_skip_37322	223987601	223987749	223987652	223987652	Frame_Shift_Del	A	-	p.F349fs
LIHC	TCGA-DD-A1EG-01	exon_skip_37324	223990973	223991154	223991084	223991084	Frame_Shift_Del	T	-	p.K111fs
COAD	TCGA-AZ-6598-01	exon_skip_37329	224001942	224002055	224001956	224001956	Frame_Shift_Del	G	-	p.P92fs
HNSC	TCGA-F7-A624-01	exon_skip_37329	224001942	224002055	224001956	224001956	Frame_Shift_Del	G	-	p.P92fs
SARC	TCGA-QQ-A8VF-01	exon_skip_37329	224001942	224002055	224001956	224001956	Frame_Shift_Del	G	-	p.P92fs
STAD	TCGA-CG-5728-01	exon_skip_37329	224001942	224002055	224001956	224001956	Frame_Shift_Del	G	-	p.P92fs
STAD	TCGA-HF-A5NB-01	exon_skip_37329	224001942	224002055	224001956	224001956	Frame_Shift_Del	G	-	p.P92fs
LIHC	TCGA-DD-A1EG-01	exon_skip_37335	224008922	224009069	224009061	224009061	Frame_Shift_Del	A	-	p.L12fs
STAD	TCGA-D7-A6EY-01	exon_skip_37321	223985917	223986379	223985981	223985982	Frame_Shift_Ins	-	T	p.I499fs
STAD	TCGA-D7-A6EY-01	exon_skip_37321	223985917	223986379	223985981	223985982	Frame_Shift_Ins	-	T	p.N628fs
STAD	TCGA-BR-6452-01	exon_skip_37318	223971817	223972016	223971921	223971921	Nonsense_Mutation	C	A	p.G1087*
BLCA	TCGA-ZF-AA4V-01	exon_skip_37320	223976710	223976876	223976731	223976731	Nonsense_Mutation	G	A	p.Q919*
UCEC	TCGA-BS-A0UF-01	exon_skip_37324	223990973	223991154	223991077	223991077	Nonsense_Mutation	C	A	p.E243*
BLCA	TCGA-K4-A3WS-01	exon_skip_37326	223994548	223994649	223994610	223994610	Nonsense_Mutation	G	A	p.Q138*
BLCA	TCGA-K4-A3WS-01	exon_skip_37326	223994548	223994649	223994610	223994610	Nonsense_Mutation	G	A	p.Q9*
COAD	TCGA-D5-6930-01	exon_skip_37329	224001942	224002055	224002011	224002011	Nonsense_Mutation	G	A	p.R74X
LIHC	TCGA-BC-A216-01	exon_skip_37329	224001942	224002055	224002032	224002032	Nonsense_Mutation	G	A	p.R67*
LIHC	TCGA-BC-A216-01	exon_skip_37329	224001942	224002055	224002032	224002032	Nonsense_Mutation	G	A	p.R67X
UCEC	TCGA-B5-A0JY-01	exon_skip_37335	224008922	224009069	224008970	224008970	Nonsense_Mutation	C	A	p.E43*
UCEC	TCGA-AP-A056-01	exon_skip_37318	223971817	223972016	223971816	223971816	Splice_Site	C	T	e17+1

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-D7-A6EY-01
	Cancer type: STAD
	ESID: exon_skip_37321
	Skipped exon start: 223985917
	Skipped exon end: 223986379
	Mutation start: 223985981
	Mutation end: 223985982
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.N628fs
	Sample: TCGA-D7-A6EY-01
	Cancer type: STAD
	ESID: exon_skip_37321
	Skipped exon start: 223985917
	Skipped exon end: 223986379
	Mutation start: 223985981
	Mutation end: 223985982
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: T
	AAchange: p.I499fs
exon_skip_100237_STAD_TCGA-D7-A6EY-01.png
exon_skip_21523_STAD_TCGA-D7-A6EY-01.png
exon_skip_37321_STAD_TCGA-D7-A6EY-01.png
exon_skip_377023_STAD_TCGA-D7-A6EY-01.png
exon_skip_425876_STAD_TCGA-D7-A6EY-01.png
exon_skip_469411_STAD_TCGA-D7-A6EY-01.png
exon_skip_489149_STAD_TCGA-D7-A6EY-01.png
exon_skip_93963_STAD_TCGA-D7-A6EY-01.png
	Sample: TCGA-AP-A056-01
	Cancer type: UCEC
	ESID: exon_skip_37318
	Skipped exon start: 223971817
	Skipped exon end: 223972016
	Mutation start: 223971816
	Mutation end: 223971816
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: e17+1
exon_skip_148936_UCEC_TCGA-AP-A056-01.png
exon_skip_331276_UCEC_TCGA-AP-A056-01.png
exon_skip_347552_UCEC_TCGA-AP-A056-01.png
exon_skip_37318_UCEC_TCGA-AP-A056-01.png
exon_skip_389380_UCEC_TCGA-AP-A056-01.png
exon_skip_445277_UCEC_TCGA-AP-A056-01.png
exon_skip_470936_UCEC_TCGA-AP-A056-01.png
exon_skip_54221_UCEC_TCGA-AP-A056-01.png
exon_skip_81411_UCEC_TCGA-AP-A056-01.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
C33A_CERVIX	224001942	224002055	224001956	224001956	Frame_Shift_Del	G	-	p.P92fs
PACADD137_PANCREAS	224001942	224002055	224001956	224001956	Frame_Shift_Del	G	-	p.P92fs
TGBC11TKB_STOMACH	224001942	224002055	224001956	224001956	Frame_Shift_Del	G	-	p.P92fs
EN_ENDOMETRIUM	224001942	224002055	224001955	224001956	Frame_Shift_Ins	-	G	p.P92fs
RKO_LARGE_INTESTINE	223990973	223991154	223991075	223991077	In_Frame_Del	TTC	-	p.E243del
EN_ENDOMETRIUM	223971817	223972016	223971870	223971870	Missense_Mutation	A	G	p.W1104R
SKUT1_SOFT_TISSUE	223971817	223972016	223971912	223971912	Missense_Mutation	T	C	p.M1090V
MZ7MEL_SKIN	223971817	223972016	223971932	223971932	Missense_Mutation	G	A	p.P1083L
NCIH513_PLEURA	223976710	223976876	223976746	223976746	Missense_Mutation	C	T	p.E1043K
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	223976710	223976876	223976806	223976806	Missense_Mutation	C	T	p.A1023T
SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	223976710	223976876	223976827	223976827	Missense_Mutation	A	G	p.F1016L
ESS1_ENDOMETRIUM	223985917	223986379	223985932	223985932	Missense_Mutation	G	T	p.P645T
SKCO1_LARGE_INTESTINE	223985917	223986379	223986006	223986006	Missense_Mutation	G	A	p.T620M
STS0421_SOFT_TISSUE	223985917	223986379	223986280	223986280	Missense_Mutation	C	G	p.D529H
HSC1_SKIN	223985917	223986379	223986336	223986336	Missense_Mutation	G	C	p.T510R
P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	223985917	223986379	223986336	223986336	Missense_Mutation	G	C	p.T510R
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	223987601	223987749	223987608	223987608	Missense_Mutation	T	G	p.D493A
TGBC24TKB_BILIARY_TRACT	223987601	223987749	223987640	223987640	Missense_Mutation	C	A	p.R482S
JMSU1_URINARY_TRACT	223987601	223987749	223987645	223987645	Missense_Mutation	G	C	p.L481V
RCCMF_KIDNEY	223987601	223987749	223987668	223987668	Missense_Mutation	T	C	p.N473S
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	223987601	223987749	223987699	223987699	Missense_Mutation	A	G	p.F463L
HUH7_LIVER	223987601	223987749	223987705	223987705	Missense_Mutation	G	A	p.R461C
HCC202_BREAST	223990973	223991154	223991002	223991002	Missense_Mutation	C	T	p.E268K
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	223990973	223991154	223991005	223991005	Missense_Mutation	C	T	p.A267T
NCIH1819_LUNG	223990973	223991154	223991013	223991013	Missense_Mutation	G	C	p.S264C
JVM3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	223990973	223991154	223991025	223991025	Missense_Mutation	T	C	p.H260R
MFE319_ENDOMETRIUM	223990973	223991154	223991031	223991031	Missense_Mutation	C	T	p.S258N
DMS79_LUNG	223990973	223991154	223991138	223991138	Missense_Mutation	C	G	p.Q222H
LAN6_AUTONOMIC_GANGLIA	223994548	223994649	223994570	223994570	Missense_Mutation	T	C	p.Q151R
NCIH2172_LUNG	223998133	223998215	223998135	223998135	Missense_Mutation	C	G	p.G124R
CHSA8926_BONE	223998133	223998215	223998191	223998191	Missense_Mutation	G	T	p.P105Q
MM415_SKIN	224001942	224002055	224001972	224001972	Missense_Mutation	G	A	p.R87C
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	224001942	224002055	224001979	224001979	Missense_Mutation	G	T	p.F84L
TT2609C02_THYROID	224001942	224002055	224002031	224002031	Missense_Mutation	C	T	p.R67Q
GP2D_LARGE_INTESTINE	224001942	224002055	224002036	224002036	Missense_Mutation	A	T	p.N65K
GP5D_LARGE_INTESTINE	224001942	224002055	224002036	224002036	Missense_Mutation	A	T	p.N65K
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	224008922	224009069	224008964	224008964	Missense_Mutation	C	T	p.G45S
GP2D_LARGE_INTESTINE	224008922	224009069	224009008	224009008	Missense_Mutation	G	A	p.P30L
NCIH2228_LUNG	223994548	223994649	223994589	223994589	Nonsense_Mutation	G	A	p.Q145*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TP53BP2

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 TP53BP2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TP53BP2

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RelatedDrugs for TP53BP2

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 TP53BP2

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 TP53BP2

Exon skipping events across known transcript of Ensembl for TP53BP2 from UCSC genome browser

Gene isoform structures and expression levels for TP53BP2

Exon skipping events with PSIs in TCGA for TP53BP2

Exon skipping events with PSIs in GTEx for TP53BP2

Open reading frame (ORF) annotation in the exon skipping event for TP53BP2

Infer the effects of exon skipping event on protein functional features for TP53BP2

SNVs in the skipped exons for TP53BP2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TP53BP2

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TP53BP2

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TP53BP2

RelatedDrugs for TP53BP2

RelatedDiseases for TP53BP2