ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TTC8

Gene summary

Gene information	Gene symbol	TTC8
	Gene ID	123016
	Gene name	tetratricopeptide repeat domain 8
	Synonyms	BBS8\|RP51
	Cytomap	14q31.3
	Type of gene	protein-coding
	Description	tetratricopeptide repeat protein 8Bardet-Biedl syndrome type 8TPR repeat protein 8
	Modification date	20180523
	UniProtAcc	Q8TAM2
	Context	PubMed: TTC8 [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 TTC8 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 TTC8

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 TTC8

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_108771	14	89291082:89291165:89300036:89300066:89305795:89305916	89300036:89300066	ENSG00000165533.14	ENST00000380656.2
exon_skip_108773	14	89291082:89291165:89303251:89303410:89305795:89305916	89303251:89303410	ENSG00000165533.14	ENST00000556077.1
exon_skip_108775	14	89291082:89291165:89305795:89305916:89307208:89307267	89305795:89305916	ENSG00000165533.14	ENST00000554686.1,ENST00000345383.5,ENST00000338104.6,ENST00000536576.1,ENST00000556651.1,ENST00000556567.1,ENST00000346301.4,ENST00000555057.1
exon_skip_108777	14	89307380:89307540:89307768:89307858:89310149:89310194	89307768:89307858	ENSG00000165533.14	ENST00000345383.5,ENST00000380656.2,ENST00000556077.1,ENST00000338104.6,ENST00000556133.1
exon_skip_108778	14	89307380:89307540:89307768:89307858:89319314:89319341	89307768:89307858	ENSG00000165533.14	ENST00000556651.1
exon_skip_108781	14	89307380:89307540:89310149:89310194:89319314:89319341	89310149:89310194	ENSG00000165533.14	ENST00000554686.1,ENST00000346301.4
exon_skip_108783	14	89307768:89307858:89310149:89310194:89319314:89319341	89310149:89310194	ENSG00000165533.14	ENST00000345383.5,ENST00000380656.2,ENST00000556077.1,ENST00000556567.1
exon_skip_108784	14	89310149:89310194:89312941:89313019:89319314:89319341	89312941:89313019	ENSG00000165533.14	ENST00000338104.6
exon_skip_108786	14	89310149:89310194:89313191:89313251:89319314:89319341	89313191:89313251	ENSG00000165533.14	ENST00000556133.1,ENST00000536576.1
exon_skip_108787	14	89310149:89310194:89319314:89319400:89323533:89323621	89319314:89319400	ENSG00000165533.14	ENST00000554686.1,ENST00000345383.5,ENST00000380656.2,ENST00000346301.4
exon_skip_108788	14	89323533:89323621:89327565:89327676:89336402:89336542	89327565:89327676	ENSG00000165533.14	ENST00000554686.1,ENST00000345383.5,ENST00000380656.2,ENST00000338104.6,ENST00000557580.1,ENST00000358622.5,ENST00000536576.1,ENST00000346301.4,ENST00000555057.1
exon_skip_108789	14	89338680:89338796:89341369:89341453:89343637:89344295	89341369:89341453	ENSG00000165533.14	ENST00000345383.5,ENST00000380656.2,ENST00000338104.6,ENST00000354441.6,ENST00000358622.5,ENST00000536576.1,ENST00000346301.4,ENST00000555057.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TTC8

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_108771	14	89291082:89291165:89300036:89300066:89305795:89305916	89300036:89300066	ENSG00000165533.14	ENST00000380656.2
exon_skip_108773	14	89291082:89291165:89303251:89303410:89305795:89305916	89303251:89303410	ENSG00000165533.14	ENST00000556077.1
exon_skip_108775	14	89291082:89291165:89305795:89305916:89307208:89307267	89305795:89305916	ENSG00000165533.14	ENST00000345383.5,ENST00000536576.1,ENST00000556567.1,ENST00000346301.4,ENST00000338104.6,ENST00000555057.1,ENST00000556651.1,ENST00000554686.1
exon_skip_108777	14	89307380:89307540:89307768:89307858:89310149:89310194	89307768:89307858	ENSG00000165533.14	ENST00000556077.1,ENST00000345383.5,ENST00000338104.6,ENST00000380656.2,ENST00000556133.1
exon_skip_108778	14	89307380:89307540:89307768:89307858:89319314:89319341	89307768:89307858	ENSG00000165533.14	ENST00000556651.1
exon_skip_108781	14	89307380:89307540:89310149:89310194:89319314:89319341	89310149:89310194	ENSG00000165533.14	ENST00000346301.4,ENST00000554686.1
exon_skip_108783	14	89307768:89307858:89310149:89310194:89319314:89319341	89310149:89310194	ENSG00000165533.14	ENST00000556077.1,ENST00000345383.5,ENST00000556567.1,ENST00000380656.2
exon_skip_108784	14	89310149:89310194:89312941:89313019:89319314:89319341	89312941:89313019	ENSG00000165533.14	ENST00000338104.6
exon_skip_108786	14	89310149:89310194:89313191:89313251:89319314:89319341	89313191:89313251	ENSG00000165533.14	ENST00000536576.1,ENST00000556133.1
exon_skip_108787	14	89310149:89310194:89319314:89319400:89323533:89323621	89319314:89319400	ENSG00000165533.14	ENST00000345383.5,ENST00000346301.4,ENST00000380656.2,ENST00000554686.1
exon_skip_108788	14	89323533:89323621:89327565:89327676:89336402:89336542	89327565:89327676	ENSG00000165533.14	ENST00000345383.5,ENST00000536576.1,ENST00000346301.4,ENST00000338104.6,ENST00000380656.2,ENST00000555057.1,ENST00000554686.1,ENST00000557580.1,ENST00000358622.5
exon_skip_108789	14	89338680:89338796:89341369:89341453:89343637:89344295	89341369:89341453	ENSG00000165533.14	ENST00000345383.5,ENST00000536576.1,ENST00000346301.4,ENST00000338104.6,ENST00000354441.6,ENST00000380656.2,ENST00000555057.1,ENST00000358622.5

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 TTC8

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 TTC8

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 TTC8

- 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_108775	89305796	89305916	89305878	89305878	Frame_Shift_Del	A	-	p.E66fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_108787	89319315	89319400	89319386	89319386	Frame_Shift_Del	A	-	p.G248fs
COAD	TCGA-CA-6717-01	exon_skip_108775	89305796	89305916	89305829	89305829	Nonsense_Mutation	G	T	p.E50X
CESC	TCGA-IR-A3LL-01	exon_skip_108789	89341370	89341453	89341385	89341385	Nonsense_Mutation	C	T	p.Q471*
KICH	TCGA-KN-8428-01	exon_skip_108778 exon_skip_108777	89307769	89307858	89307767	89307767	Splice_Site	A	G	.
KICH	TCGA-KN-8428-01	exon_skip_108778 exon_skip_108777	89307769	89307858	89307767	89307767	Splice_Site	A	G	p.A154_splice
UCEC	TCGA-B5-A11E-01	exon_skip_108778 exon_skip_108777	89307769	89307858	89307768	89307768	Splice_Site	G	T	e6-1

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-KN-8428-01
	Cancer type: KICH
	ESID: exon_skip_108777
	Skipped exon start: 89307769
	Skipped exon end: 89307858
	Mutation start: 89307767
	Mutation end: 89307767
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: .
	Sample: TCGA-KN-8428-01
	Cancer type: KICH
	ESID: exon_skip_108777
	Skipped exon start: 89307769
	Skipped exon end: 89307858
	Mutation start: 89307767
	Mutation end: 89307767
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: p.A154_splice
exon_skip_108777_KICH_TCGA-KN-8428-01.png
exon_skip_108778_KICH_TCGA-KN-8428-01.png
exon_skip_374468_KICH_TCGA-KN-8428-01.png
exon_skip_374469_KICH_TCGA-KN-8428-01.png
	Sample: TCGA-B5-A11E-01
	Cancer type: UCEC
	ESID: exon_skip_108777
	Skipped exon start: 89307769
	Skipped exon end: 89307858
	Mutation start: 89307768
	Mutation end: 89307768
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: T
	AAchange: e6-1
exon_skip_104037_UCEC_TCGA-B5-A11E-01.png
exon_skip_106242_UCEC_TCGA-B5-A11E-01.png
exon_skip_108777_UCEC_TCGA-B5-A11E-01.png
exon_skip_108778_UCEC_TCGA-B5-A11E-01.png
exon_skip_121584_UCEC_TCGA-B5-A11E-01.png
exon_skip_121649_UCEC_TCGA-B5-A11E-01.png
exon_skip_131821_UCEC_TCGA-B5-A11E-01.png
exon_skip_133126_UCEC_TCGA-B5-A11E-01.png
exon_skip_23327_UCEC_TCGA-B5-A11E-01.png
exon_skip_27874_UCEC_TCGA-B5-A11E-01.png
exon_skip_312611_UCEC_TCGA-B5-A11E-01.png
exon_skip_312613_UCEC_TCGA-B5-A11E-01.png
exon_skip_312641_UCEC_TCGA-B5-A11E-01.png
exon_skip_313540_UCEC_TCGA-B5-A11E-01.png
exon_skip_326446_UCEC_TCGA-B5-A11E-01.png
exon_skip_326448_UCEC_TCGA-B5-A11E-01.png
exon_skip_330038_UCEC_TCGA-B5-A11E-01.png
exon_skip_340150_UCEC_TCGA-B5-A11E-01.png
exon_skip_348004_UCEC_TCGA-B5-A11E-01.png
exon_skip_348005_UCEC_TCGA-B5-A11E-01.png
exon_skip_377858_UCEC_TCGA-B5-A11E-01.png
exon_skip_380242_UCEC_TCGA-B5-A11E-01.png
exon_skip_433438_UCEC_TCGA-B5-A11E-01.png
exon_skip_489645_UCEC_TCGA-B5-A11E-01.png
exon_skip_500396_UCEC_TCGA-B5-A11E-01.png
exon_skip_62223_UCEC_TCGA-B5-A11E-01.png
exon_skip_97620_UCEC_TCGA-B5-A11E-01.png
exon_skip_97655_UCEC_TCGA-B5-A11E-01.png
	Sample: TCGA-KN-8428-01
	Cancer type: KICH
	ESID: exon_skip_108777
	Skipped exon start: 89307769
	Skipped exon end: 89307858
	Mutation start: 89307767
	Mutation end: 89307767
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: .
	Sample: TCGA-KN-8428-01
	Cancer type: KICH
	ESID: exon_skip_108777
	Skipped exon start: 89307769
	Skipped exon end: 89307858
	Mutation start: 89307767
	Mutation end: 89307767
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: p.A154_splice
exon_skip_108777_KICH_TCGA-KN-8428-01.png
exon_skip_108778_KICH_TCGA-KN-8428-01.png
exon_skip_374468_KICH_TCGA-KN-8428-01.png
exon_skip_374469_KICH_TCGA-KN-8428-01.png
	Sample: TCGA-B5-A11E-01
	Cancer type: UCEC
	ESID: exon_skip_108777
	Skipped exon start: 89307769
	Skipped exon end: 89307858
	Mutation start: 89307768
	Mutation end: 89307768
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: T
	AAchange: e6-1
exon_skip_104037_UCEC_TCGA-B5-A11E-01.png
exon_skip_106242_UCEC_TCGA-B5-A11E-01.png
exon_skip_108777_UCEC_TCGA-B5-A11E-01.png
exon_skip_108778_UCEC_TCGA-B5-A11E-01.png
exon_skip_121584_UCEC_TCGA-B5-A11E-01.png
exon_skip_121649_UCEC_TCGA-B5-A11E-01.png
exon_skip_131821_UCEC_TCGA-B5-A11E-01.png
exon_skip_133126_UCEC_TCGA-B5-A11E-01.png
exon_skip_23327_UCEC_TCGA-B5-A11E-01.png
exon_skip_27874_UCEC_TCGA-B5-A11E-01.png
exon_skip_312611_UCEC_TCGA-B5-A11E-01.png
exon_skip_312613_UCEC_TCGA-B5-A11E-01.png
exon_skip_312641_UCEC_TCGA-B5-A11E-01.png
exon_skip_313540_UCEC_TCGA-B5-A11E-01.png
exon_skip_326446_UCEC_TCGA-B5-A11E-01.png
exon_skip_326448_UCEC_TCGA-B5-A11E-01.png
exon_skip_330038_UCEC_TCGA-B5-A11E-01.png
exon_skip_340150_UCEC_TCGA-B5-A11E-01.png
exon_skip_348004_UCEC_TCGA-B5-A11E-01.png
exon_skip_348005_UCEC_TCGA-B5-A11E-01.png
exon_skip_377858_UCEC_TCGA-B5-A11E-01.png
exon_skip_380242_UCEC_TCGA-B5-A11E-01.png
exon_skip_433438_UCEC_TCGA-B5-A11E-01.png
exon_skip_489645_UCEC_TCGA-B5-A11E-01.png
exon_skip_500396_UCEC_TCGA-B5-A11E-01.png
exon_skip_62223_UCEC_TCGA-B5-A11E-01.png
exon_skip_97620_UCEC_TCGA-B5-A11E-01.png
exon_skip_97655_UCEC_TCGA-B5-A11E-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
SNU1040_LARGE_INTESTINE	89312942	89313019	89313012	89313012	Frame_Shift_Del	A	-	p.E222fs
KALS1_CENTRAL_NERVOUS_SYSTEM	89319315	89319400	89319327	89319328	Frame_Shift_Ins	-	C	p.A203fs
OVKATE_OVARY	89305796	89305916	89305802	89305802	Missense_Mutation	T	C	p.W41R
HCC1171_LUNG	89305796	89305916	89305813	89305813	Missense_Mutation	A	T	p.K44N
TGBC1TKB_BILIARY_TRACT	89305796	89305916	89305814	89305814	Missense_Mutation	G	T	p.A45S
SNU1040_LARGE_INTESTINE	89305796	89305916	89305821	89305821	Missense_Mutation	C	T	p.A47V
ECC10_STOMACH	89305796	89305916	89305899	89305899	Missense_Mutation	C	G	p.A73G
KPNRTBM1_AUTONOMIC_GANGLIA	89307769	89307858	89307782	89307782	Missense_Mutation	C	T	p.T158I
KOSC2_UPPER_AERODIGESTIVE_TRACT	89307769	89307858	89307790	89307790	Missense_Mutation	G	A	p.D161N
DETROIT562_UPPER_AERODIGESTIVE_TRACT	89327566	89327676	89327638	89327638	Missense_Mutation	G	A	p.E281K
DETROIT562_UPPER_AERODIGESTIVE_TRACT	89327566	89327676	89327638	89327639	Missense_Mutation	GA	AG	p.E281R
DETROIT562_UPPER_AERODIGESTIVE_TRACT	89327566	89327676	89327639	89327639	Missense_Mutation	A	G	p.E281G
22RV1_PROSTATE	89327566	89327676	89327654	89327654	Missense_Mutation	G	A	p.C286Y
KARPAS231_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	89327566	89327676	89327672	89327672	Missense_Mutation	A	G	p.Y292C
NCIH1339_LUNG	89341370	89341453	89341422	89341422	Missense_Mutation	C	A	p.P457Q
KNS60_CENTRAL_NERVOUS_SYSTEM	89327566	89327676	89327566	89327566	Splice_Site	G	A	p.V257I

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TTC8

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 TTC8

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTC8

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RelatedDrugs for TTC8

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 TTC8

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 TTC8

Exon skipping events across known transcript of Ensembl for TTC8 from UCSC genome browser

Gene isoform structures and expression levels for TTC8

Exon skipping events with PSIs in TCGA for TTC8

Exon skipping events with PSIs in GTEx for TTC8

Open reading frame (ORF) annotation in the exon skipping event for TTC8

Infer the effects of exon skipping event on protein functional features for TTC8

SNVs in the skipped exons for TTC8

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TTC8

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTC8

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTC8

RelatedDrugs for TTC8

RelatedDiseases for TTC8