ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TNKS1BP1

Gene summary

Gene information	Gene symbol	TNKS1BP1
	Gene ID	85456
	Gene name	tankyrase 1 binding protein 1
	Synonyms	TAB182
	Cytomap	11q12.1
	Type of gene	protein-coding
	Description	182 kDa tankyrase-1-binding proteintankyrase 1 binding protein 1, 182kDatankyrase 1-binding protein of 182 kDatestis secretory sperm-binding protein Li 206a
	Modification date	20180522
	UniProtAcc	Q9C0C2
	Context	PubMed: TNKS1BP1 [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 TNKS1BP1 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 TNKS1BP1

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 TNKS1BP1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_71134	11	57069280:57069417:57069547:57069698:57069932:57070299	57069547:57069698	ENSG00000149115.9	ENST00000427750.2,ENST00000532437.1,ENST00000358252.3
exon_skip_71142	11	57085291:57085361:57087538:57088186:57089265:57089424	57087538:57088186	ENSG00000149115.9	ENST00000528882.1
exon_skip_71144	11	57085291:57085361:57087552:57088186:57089265:57089424	57087552:57088186	ENSG00000149115.9	ENST00000532437.1,ENST00000358252.3
exon_skip_71147	11	57087850:57088186:57089265:57089424:57089710:57089809	57089265:57089424	ENSG00000149115.9	ENST00000527207.1
exon_skip_71148	11	57087850:57088186:57089265:57089424:57092313:57092401	57089265:57089424	ENSG00000149115.9	ENST00000358252.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TNKS1BP1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_71134	11	57069280:57069417:57069547:57069698:57069932:57070299	57069547:57069698	ENSG00000149115.9	ENST00000358252.3,ENST00000532437.1,ENST00000427750.2
exon_skip_71142	11	57085291:57085361:57087538:57088186:57089265:57089424	57087538:57088186	ENSG00000149115.9	ENST00000528882.1
exon_skip_71144	11	57085291:57085361:57087552:57088186:57089265:57089424	57087552:57088186	ENSG00000149115.9	ENST00000358252.3,ENST00000532437.1
exon_skip_71147	11	57087850:57088186:57089265:57089424:57089710:57089809	57089265:57089424	ENSG00000149115.9	ENST00000527207.1
exon_skip_71148	11	57087850:57088186:57089265:57089424:57092313:57092401	57089265:57089424	ENSG00000149115.9	ENST00000358252.3

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 TNKS1BP1

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
ENST00000358252	57089265	57089424	3UTR-3CDS
ENST00000358252	57069547	57069698	Frame-shift
ENST00000532437	57069547	57069698	Frame-shift
ENST00000358252	57087552	57088186	Frame-shift
ENST00000532437	57087552	57088186	Frame-shift

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
ENST00000358252	57089265	57089424	3UTR-3CDS
ENST00000358252	57069547	57069698	Frame-shift
ENST00000532437	57069547	57069698	Frame-shift
ENST00000358252	57087552	57088186	Frame-shift
ENST00000532437	57087552	57088186	Frame-shift

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Infer the effects of exon skipping event on protein functional features for TNKS1BP1

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 TNKS1BP1

- 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-A1EG-01	exon_skip_71142 exon_skip_71144	57087539	57088186	57087609	57087609	Frame_Shift_Del	C	-	p.G224fs
LIHC	TCGA-DD-A1EG-01	exon_skip_71142 exon_skip_71144	57087553	57088186	57087609	57087609	Frame_Shift_Del	C	-	p.G224fs
LIHC	TCGA-DD-A3A0-01	exon_skip_71142 exon_skip_71144	57087539	57088186	57087609	57087609	Frame_Shift_Del	C	-	p.G224fs
LIHC	TCGA-DD-A3A0-01	exon_skip_71142 exon_skip_71144	57087553	57088186	57087609	57087609	Frame_Shift_Del	C	-	p.G224fs
STAD	TCGA-BR-8370-01	exon_skip_71142 exon_skip_71144	57087539	57088186	57087864	57087864	Frame_Shift_Del	T	-	p.G140fs
STAD	TCGA-BR-8370-01	exon_skip_71142 exon_skip_71144	57087553	57088186	57087864	57087864	Frame_Shift_Del	T	-	p.G140fs
STAD	TCGA-HU-A4G8-01	exon_skip_71142 exon_skip_71144	57087539	57088186	57087895	57087895	Frame_Shift_Del	G	-	p.P129fs
STAD	TCGA-HU-A4G8-01	exon_skip_71142 exon_skip_71144	57087553	57088186	57087895	57087895	Frame_Shift_Del	G	-	p.P129fs
LIHC	TCGA-DD-A1EG-01	exon_skip_71142 exon_skip_71144	57087539	57088186	57088152	57088152	Frame_Shift_Del	T	-	p.K43fs
LIHC	TCGA-DD-A1EG-01	exon_skip_71142 exon_skip_71144	57087553	57088186	57088152	57088152	Frame_Shift_Del	T	-	p.K43fs
LIHC	TCGA-EP-A2KA-01	exon_skip_71134	57069548	57069698	57069548	57069548	Nonsense_Mutation	C	A	p.E1612X
HNSC	TCGA-CN-A6V3-01	exon_skip_71142 exon_skip_71144	57087539	57088186	57087950	57087950	Nonsense_Mutation	C	A	p.G111*
HNSC	TCGA-CN-A6V3-01	exon_skip_71142 exon_skip_71144	57087553	57088186	57087950	57087950	Nonsense_Mutation	C	A	p.G111*

- 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
BICR18_UPPER_AERODIGESTIVE_TRACT	57087539	57088186	57088134	57088135	Frame_Shift_Ins	-	CT	p.A49fs
BICR18_UPPER_AERODIGESTIVE_TRACT	57087553	57088186	57088134	57088135	Frame_Shift_Ins	-	CT	p.A49fs
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57087539	57088186	57088141	57088142	Frame_Shift_Ins	-	G	p.L47fs
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57087553	57088186	57088141	57088142	Frame_Shift_Ins	-	G	p.L47fs
UMUC3_URINARY_TRACT	57069548	57069698	57069550	57069550	Missense_Mutation	G	C	p.T1611R
CCFSTTG1_CENTRAL_NERVOUS_SYSTEM	57069548	57069698	57069631	57069631	Missense_Mutation	C	T	p.R1584Q
TOV21G_OVARY	57069548	57069698	57069683	57069683	Missense_Mutation	C	A	p.D1567Y
HCT15_LARGE_INTESTINE	57087539	57088186	57087560	57087560	Missense_Mutation	C	T	p.E241K
HCT15_LARGE_INTESTINE	57087553	57088186	57087560	57087560	Missense_Mutation	C	T	p.E241K
HEC251_ENDOMETRIUM	57087539	57088186	57087707	57087707	Missense_Mutation	C	T	p.D192N
HEC251_ENDOMETRIUM	57087553	57088186	57087707	57087707	Missense_Mutation	C	T	p.D192N
HEC6_ENDOMETRIUM	57087539	57088186	57087766	57087766	Missense_Mutation	C	T	p.R172Q
HEC6_ENDOMETRIUM	57087553	57088186	57087766	57087766	Missense_Mutation	C	T	p.R172Q
SNU1040_LARGE_INTESTINE	57087539	57088186	57087766	57087766	Missense_Mutation	C	T	p.R172Q
SNU1040_LARGE_INTESTINE	57087553	57088186	57087766	57087766	Missense_Mutation	C	T	p.R172Q
YD15_SALIVARY_GLAND	57087539	57088186	57087823	57087823	Missense_Mutation	G	A	p.S153L
YD15_SALIVARY_GLAND	57087553	57088186	57087823	57087823	Missense_Mutation	G	A	p.S153L
BHY_UPPER_AERODIGESTIVE_TRACT	57087539	57088186	57087849	57087849	Missense_Mutation	C	A	p.K144N
BHY_UPPER_AERODIGESTIVE_TRACT	57087553	57088186	57087849	57087849	Missense_Mutation	C	A	p.K144N
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57087539	57088186	57087849	57087849	Missense_Mutation	C	A	p.K144N
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57087553	57088186	57087849	57087849	Missense_Mutation	C	A	p.K144N
MERO48A_LUNG	57087539	57088186	57087869	57087869	Missense_Mutation	C	T	p.A138T
MERO48A_LUNG	57087553	57088186	57087869	57087869	Missense_Mutation	C	T	p.A138T
NCIH630_LARGE_INTESTINE	57087539	57088186	57087998	57087998	Missense_Mutation	G	A	p.R95C
NCIH630_LARGE_INTESTINE	57087553	57088186	57087998	57087998	Missense_Mutation	G	A	p.R95C
SW756_CERVIX	57087539	57088186	57088038	57088038	Missense_Mutation	C	T	p.M81I
SW756_CERVIX	57087553	57088186	57088038	57088038	Missense_Mutation	C	T	p.M81I
MEWO_SKIN	57087539	57088186	57088049	57088049	Missense_Mutation	C	A	p.A78S
MEWO_SKIN	57087553	57088186	57088049	57088049	Missense_Mutation	C	A	p.A78S
NCIH1105_LUNG	57087539	57088186	57088072	57088072	Missense_Mutation	C	T	p.G70D
NCIH1105_LUNG	57087553	57088186	57088072	57088072	Missense_Mutation	C	T	p.G70D
EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57087539	57088186	57088072	57088072	Missense_Mutation	C	G	p.G70A
EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57087553	57088186	57088072	57088072	Missense_Mutation	C	G	p.G70A
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57087539	57088186	57088100	57088100	Missense_Mutation	C	T	p.V61M
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57087553	57088186	57088100	57088100	Missense_Mutation	C	T	p.V61M
GCT_SOFT_TISSUE	57089266	57089424	57089274	57089274	Missense_Mutation	G	T	p.S29Y
M980513_SKIN	57089266	57089424	57089283	57089283	Missense_Mutation	G	A	p.P26L
HEC59_ENDOMETRIUM	57089266	57089424	57089308	57089308	Missense_Mutation	G	A	p.R18W

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TNKS1BP1

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 TNKS1BP1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TNKS1BP1

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RelatedDrugs for TNKS1BP1

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 TNKS1BP1

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 TNKS1BP1

Exon skipping events across known transcript of Ensembl for TNKS1BP1 from UCSC genome browser

Gene isoform structures and expression levels for TNKS1BP1

Exon skipping events with PSIs in TCGA for TNKS1BP1

Exon skipping events with PSIs in GTEx for TNKS1BP1

Open reading frame (ORF) annotation in the exon skipping event for TNKS1BP1

Infer the effects of exon skipping event on protein functional features for TNKS1BP1

SNVs in the skipped exons for TNKS1BP1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TNKS1BP1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TNKS1BP1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TNKS1BP1

RelatedDrugs for TNKS1BP1

RelatedDiseases for TNKS1BP1