ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for CEP170

Gene summary

Gene information	Gene symbol	CEP170
	Gene ID	9859
	Gene name	centrosomal protein 170
	Synonyms	FAM68A\|KAB\|KIAA0470
	Cytomap	1q43
	Type of gene	protein-coding
	Description	centrosomal protein of 170 kDaKARP-1-binding proteinXRCC5 binding proteincentrosomal protein 170kDa
	Modification date	20180522
	UniProtAcc	Q5SW79
	Context	PubMed: CEP170 [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 CEP170 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 CEP170

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 CEP170

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_38471	1	243289223:243289436:243289679:243289796:243289914:243290000	243289679:243289796	ENSG00000143702.11	ENST00000466495.1
exon_skip_38472	1	243303285:243303409:243305587:243305765:243319522:243319649	243305587:243305765	ENSG00000143702.11	ENST00000366543.1,ENST00000481987.1,ENST00000336415.4
exon_skip_38473	1	243303285:243303409:243305617:243305765:243319522:243319649	243305617:243305765	ENSG00000143702.11	ENST00000366542.1,ENST00000366544.1
exon_skip_38474	1	243303285:243303409:243305668:243305765:243319522:243319649	243305668:243305765	ENSG00000143702.11	ENST00000492145.1,ENST00000413359.2,ENST00000464936.1,ENST00000490813.1
exon_skip_38475	1	243332995:243333056:243335998:243336148:243349560:243349582	243335998:243336148	ENSG00000143702.11	ENST00000366543.1,ENST00000366544.1,ENST00000522895.1
exon_skip_38476	1	243336112:243336148:243340003:243340118:243349080:243349374	243340003:243340118	ENSG00000143702.11	ENST00000461671.1
exon_skip_38477	1	243336112:243336148:243349080:243349374:243349560:243349582	243349080:243349374	ENSG00000143702.11	ENST00000366542.1,ENST00000521911.1
exon_skip_38480	1	243349560:243349724:243354319:243354796:243362361:243362496	243354319:243354796	ENSG00000143702.11	ENST00000366543.1,ENST00000366542.1,ENST00000366544.1,ENST00000336415.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for CEP170

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_38471	1	243289223:243289436:243289679:243289796:243289914:243290000	243289679:243289796	ENSG00000143702.11	ENST00000466495.1
exon_skip_38472	1	243303285:243303409:243305587:243305765:243319522:243319649	243305587:243305765	ENSG00000143702.11	ENST00000366543.1,ENST00000481987.1,ENST00000336415.4
exon_skip_38473	1	243303285:243303409:243305617:243305765:243319522:243319649	243305617:243305765	ENSG00000143702.11	ENST00000366542.1,ENST00000366544.1
exon_skip_38474	1	243303285:243303409:243305668:243305765:243319522:243319649	243305668:243305765	ENSG00000143702.11	ENST00000490813.1,ENST00000413359.2,ENST00000464936.1,ENST00000492145.1
exon_skip_38476	1	243336112:243336148:243340003:243340118:243349080:243349374	243340003:243340118	ENSG00000143702.11	ENST00000461671.1
exon_skip_38477	1	243336112:243336148:243349080:243349374:243349560:243349582	243349080:243349374	ENSG00000143702.11	ENST00000366542.1,ENST00000521911.1
exon_skip_38480	1	243349560:243349724:243354319:243354796:243362361:243362496	243354319:243354796	ENSG00000143702.11	ENST00000366542.1,ENST00000366544.1,ENST00000366543.1,ENST00000336415.4

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 CEP170

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 CEP170

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 CEP170

- 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.

CEP170_HNSC_exon_skip_38477_psi_boxplot.png
boxplot

CEP170_LUAD_exon_skip_38477_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
LUAD	TCGA-44-5643-01	exon_skip_38475	243335999	243336148	243336107	243336107	Frame_Shift_Del	A	-	p.V536fs
UCEC	TCGA-BS-A0TA-01	exon_skip_38477	243349081	243349374	243349205	243349205	Frame_Shift_Del	T	-	p.N481fs
UCEC	TCGA-AP-A0LH-01	exon_skip_38477	243349081	243349374	243349117	243349118	Frame_Shift_Ins	-	T	p.N510fs
LUAD	TCGA-78-7155-01	exon_skip_38477	243349081	243349374	243349110	243349110	Nonsense_Mutation	C	A	p.E513*
HNSC	TCGA-CR-7399-01	exon_skip_38477	243349081	243349374	243349134	243349134	Nonsense_Mutation	C	A	p.E505*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CR-7399-01
	Cancer type: HNSC
	ESID: exon_skip_38477
	Skipped exon start: 243349081
	Skipped exon end: 243349374
	Mutation start: 243349134
	Mutation end: 243349134
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E505*
exon_skip_28618_HNSC_TCGA-CR-7399-01.png
exon_skip_38477_HNSC_TCGA-CR-7399-01.png
	Sample: TCGA-78-7155-01
	Cancer type: LUAD
	ESID: exon_skip_38477
	Skipped exon start: 243349081
	Skipped exon end: 243349374
	Mutation start: 243349110
	Mutation end: 243349110
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E513*
exon_skip_330019_LUAD_TCGA-78-7155-01.png
exon_skip_347552_LUAD_TCGA-78-7155-01.png
exon_skip_348786_LUAD_TCGA-78-7155-01.png
exon_skip_348789_LUAD_TCGA-78-7155-01.png
exon_skip_354315_LUAD_TCGA-78-7155-01.png
exon_skip_38477_LUAD_TCGA-78-7155-01.png
exon_skip_7325_LUAD_TCGA-78-7155-01.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
RERFLCAD2_LUNG	243335999	243336148	243336009	243336009	Missense_Mutation	T	A	p.H569L
SW13_ADRENAL_CORTEX	243335999	243336148	243336015	243336015	Missense_Mutation	C	T	p.G567E
JHUEM1_ENDOMETRIUM	243335999	243336148	243336100	243336100	Missense_Mutation	C	T	p.E539K
LOVO_LARGE_INTESTINE	243335999	243336148	243336100	243336100	Missense_Mutation	C	T	p.E539K
NCIH2009_LUNG	243335999	243336148	243336104	243336104	Missense_Mutation	G	C	p.I537M
OVK18_OVARY	243349081	243349374	243349169	243349169	Missense_Mutation	T	C	p.D493G
BICR56_UPPER_AERODIGESTIVE_TRACT	243349081	243349374	243349182	243349182	Missense_Mutation	C	T	p.E489K
KYSE520_OESOPHAGUS	243349081	243349374	243349184	243349184	Missense_Mutation	G	A	p.S488F
HCC2998_LARGE_INTESTINE	243349081	243349374	243349203	243349203	Missense_Mutation	G	T	p.Q482K
BICR18_UPPER_AERODIGESTIVE_TRACT	243349081	243349374	243349217	243349218	Missense_Mutation	TT	AC	p.K477V
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	243349081	243349374	243349217	243349218	Missense_Mutation	TT	AC	p.K477V
BICR18_UPPER_AERODIGESTIVE_TRACT	243349081	243349374	243349217	243349217	Missense_Mutation	T	A	p.K477I
BICR18_UPPER_AERODIGESTIVE_TRACT	243349081	243349374	243349218	243349218	Missense_Mutation	T	C	p.K477E
SNU1040_LARGE_INTESTINE	243349081	243349374	243349288	243349288	Missense_Mutation	T	C	p.I453M
BICR18_UPPER_AERODIGESTIVE_TRACT	243349081	243349374	243349290	243349290	Missense_Mutation	T	G	p.I453L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	243349081	243349374	243349290	243349290	Missense_Mutation	T	G	p.I453L
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	243349081	243349374	243349290	243349290	Missense_Mutation	T	G	p.I453L
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	243349081	243349374	243349290	243349290	Missense_Mutation	T	G	p.I453L
S117_SOFT_TISSUE	243349081	243349374	243349290	243349290	Missense_Mutation	T	G	p.I453L
SNU81_LARGE_INTESTINE	243349081	243349374	243349298	243349298	Missense_Mutation	G	A	p.S450L
SNUC5_LARGE_INTESTINE	243349081	243349374	243349352	243349352	Missense_Mutation	C	A	p.G432V
BICR18_UPPER_AERODIGESTIVE_TRACT	243349081	243349374	243349365	243349365	Missense_Mutation	C	T	p.A428T
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	243349081	243349374	243349365	243349365	Missense_Mutation	C	T	p.A428T
S117_SOFT_TISSUE	243349081	243349374	243349365	243349365	Missense_Mutation	C	T	p.A428T
OVCA433_OVARY	243354320	243354796	243354450	243354450	Missense_Mutation	C	T	p.M326I
CW2_LARGE_INTESTINE	243354320	243354796	243354560	243354560	Missense_Mutation	C	A	p.G290W
MCC13_SKIN	243354320	243354796	243354619	243354619	Missense_Mutation	G	A	p.S270F
SNUC2B_LARGE_INTESTINE	243354320	243354796	243354623	243354623	Missense_Mutation	T	A	p.S269C
NCIH1793_LUNG	243335999	243336148	243336001	243336001	Nonsense_Mutation	C	A	p.E572*
KYSE520_OESOPHAGUS	243349081	243349374	243349203	243349203	Nonsense_Mutation	G	A	p.Q482*
KYSE520_OESOPHAGUS	243349081	243349374	243349292	243349292	Nonsense_Mutation	G	C	p.S452*
KYSE520_OESOPHAGUS	243349081	243349374	243349310	243349310	Nonsense_Mutation	G	C	p.S446*
HEC6_ENDOMETRIUM	243349081	243349374	243349317	243349317	Nonsense_Mutation	G	A	p.Q444*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CEP170

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 CEP170

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CEP170

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RelatedDrugs for CEP170

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 CEP170

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 CEP170

Exon skipping events across known transcript of Ensembl for CEP170 from UCSC genome browser

Gene isoform structures and expression levels for CEP170

Exon skipping events with PSIs in TCGA for CEP170

Exon skipping events with PSIs in GTEx for CEP170

Open reading frame (ORF) annotation in the exon skipping event for CEP170

Infer the effects of exon skipping event on protein functional features for CEP170

SNVs in the skipped exons for CEP170

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CEP170

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CEP170

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CEP170

RelatedDrugs for CEP170

RelatedDiseases for CEP170