ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for DOCK6

Gene summary

Gene information	Gene symbol	DOCK6
	Gene ID	57572
	Gene name	dedicator of cytokinesis 6
	Synonyms	AOS2\|ZIR1
	Cytomap	19p13.2
	Type of gene	protein-coding
	Description	dedicator of cytokinesis protein 6
	Modification date	20180519
	UniProtAcc	Q96HP0
	Context	PubMed: DOCK6 [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 DOCK6 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 DOCK6

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 DOCK6

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_315075	19	11310172:11310215:11310983:11311145:11311391:11311498	11310983:11311145	ENSG00000130158.9	ENST00000587656.1,ENST00000294618.7,ENST00000586702.1,ENST00000319867.7
exon_skip_315077	19	11314875:11315007:11319361:11319505:11319586:11319620	11319361:11319505	ENSG00000130158.9	ENST00000587656.1,ENST00000294618.7,ENST00000319867.7
exon_skip_315080	19	11322668:11322827:11323851:11324004:11324950:11325085	11323851:11324004	ENSG00000130158.9	ENST00000587656.1,ENST00000294618.7,ENST00000319867.7
exon_skip_315084	19	11327906:11328067:11332526:11332696:11332784:11332924	11332526:11332696	ENSG00000130158.9	ENST00000587656.1,ENST00000294618.7,ENST00000319867.7
exon_skip_315087	19	11338012:11338153:11339615:11339711:11343878:11344042	11339615:11339711	ENSG00000130158.9	ENST00000294618.7
exon_skip_315091	19	11339676:11339711:11339973:11340066:11342860:11342965	11339973:11340066	ENSG00000130158.9	ENST00000585904.1
exon_skip_315093	19	11339676:11339711:11339973:11340066:11343878:11344042	11339973:11340066	ENSG00000130158.9	ENST00000590680.1
exon_skip_315095	19	11339676:11339711:11342860:11342965:11343878:11344042	11342860:11342965	ENSG00000130158.9	ENST00000587656.1,ENST00000319867.7
exon_skip_315099	19	11339973:11340066:11342860:11342965:11343878:11344042	11342860:11342965	ENSG00000130158.9	ENST00000585904.1
exon_skip_315100	19	11347021:11347253:11347468:11347555:11348131:11348233	11347468:11347555	ENSG00000130158.9	ENST00000590680.1,ENST00000294618.7,ENST00000319867.7
exon_skip_315101	19	11348131:11348233:11348316:11348455:11348720:11348763	11348316:11348455	ENSG00000130158.9	ENST00000590680.1,ENST00000294618.7,ENST00000319867.7
exon_skip_315102	19	11348720:11348791:11348862:11348980:11352720:11352883	11348862:11348980	ENSG00000130158.9	ENST00000294618.7
exon_skip_315105	19	11354477:11354558:11356238:11356388:11356487:11356554	11356238:11356388	ENSG00000130158.9	ENST00000294618.7

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for DOCK6

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_315077	19	11314875:11315007:11319361:11319505:11319586:11319620	11319361:11319505	ENSG00000130158.9	ENST00000294618.7,ENST00000319867.7,ENST00000587656.1
exon_skip_315080	19	11322668:11322827:11323851:11324004:11324950:11325085	11323851:11324004	ENSG00000130158.9	ENST00000294618.7,ENST00000319867.7,ENST00000587656.1
exon_skip_315084	19	11327906:11328067:11332526:11332696:11332784:11332924	11332526:11332696	ENSG00000130158.9	ENST00000294618.7,ENST00000319867.7,ENST00000587656.1
exon_skip_315087	19	11338012:11338153:11339615:11339711:11343878:11344042	11339615:11339711	ENSG00000130158.9	ENST00000294618.7
exon_skip_315091	19	11339676:11339711:11339973:11340066:11342860:11342965	11339973:11340066	ENSG00000130158.9	ENST00000585904.1
exon_skip_315093	19	11339676:11339711:11339973:11340066:11343878:11344042	11339973:11340066	ENSG00000130158.9	ENST00000590680.1
exon_skip_315095	19	11339676:11339711:11342860:11342965:11343878:11344042	11342860:11342965	ENSG00000130158.9	ENST00000319867.7,ENST00000587656.1
exon_skip_315099	19	11339973:11340066:11342860:11342965:11343878:11344042	11342860:11342965	ENSG00000130158.9	ENST00000585904.1
exon_skip_315100	19	11347021:11347253:11347468:11347555:11348131:11348233	11347468:11347555	ENSG00000130158.9	ENST00000294618.7,ENST00000319867.7,ENST00000590680.1
exon_skip_315101	19	11348131:11348233:11348316:11348455:11348720:11348763	11348316:11348455	ENSG00000130158.9	ENST00000294618.7,ENST00000319867.7,ENST00000590680.1
exon_skip_315102	19	11348720:11348791:11348862:11348980:11352720:11352883	11348862:11348980	ENSG00000130158.9	ENST00000294618.7
exon_skip_315105	19	11354477:11354558:11356238:11356388:11356487:11356554	11356238:11356388	ENSG00000130158.9	ENST00000294618.7

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 DOCK6

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
ENST00000294618	11332526	11332696	Frame-shift
ENST00000294618	11348316	11348455	Frame-shift
ENST00000294618	11348862	11348980	Frame-shift
ENST00000294618	11310983	11311145	In-frame
ENST00000294618	11319361	11319505	In-frame
ENST00000294618	11323851	11324004	In-frame
ENST00000294618	11339615	11339711	In-frame
ENST00000294618	11347468	11347555	In-frame
ENST00000294618	11356238	11356388	In-frame

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
ENST00000294618	11332526	11332696	Frame-shift
ENST00000294618	11348316	11348455	Frame-shift
ENST00000294618	11348862	11348980	Frame-shift
ENST00000294618	11319361	11319505	In-frame
ENST00000294618	11323851	11324004	In-frame
ENST00000294618	11339615	11339711	In-frame
ENST00000294618	11347468	11347555	In-frame
ENST00000294618	11356238	11356388	In-frame

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Infer the effects of exon skipping event on protein functional features for DOCK6

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
ENST00000294618	6375	2047	11356238	11356388	886	1035	291	341
ENST00000294618	6375	2047	11347468	11347555	2086	2172	691	720
ENST00000294618	6375	2047	11339615	11339711	2731	2826	906	938
ENST00000294618	6375	2047	11323851	11324004	4351	4503	1446	1497
ENST00000294618	6375	2047	11319361	11319505	4957	5100	1648	1696
ENST00000294618	6375	2047	11310983	11311145	5952	6113	1980	2033

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
ENST00000294618	6375	2047	11356238	11356388	886	1035	291	341
ENST00000294618	6375	2047	11347468	11347555	2086	2172	691	720
ENST00000294618	6375	2047	11339615	11339711	2731	2826	906	938
ENST00000294618	6375	2047	11323851	11324004	4351	4503	1446	1497
ENST00000294618	6375	2047	11319361	11319505	4957	5100	1648	1696

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
Q96HP0	291	341	1	2047	Chain	ID=PRO_0000189993;Note=Dedicator of cytokinesis protein 6
Q96HP0	691	720	1	2047	Chain	ID=PRO_0000189993;Note=Dedicator of cytokinesis protein 6
Q96HP0	691	720	548	714	Domain	Note=DHR-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00983
Q96HP0	906	938	1	2047	Chain	ID=PRO_0000189993;Note=Dedicator of cytokinesis protein 6
Q96HP0	1446	1497	1	2047	Chain	ID=PRO_0000189993;Note=Dedicator of cytokinesis protein 6
Q96HP0	1648	1696	1	2047	Chain	ID=PRO_0000189993;Note=Dedicator of cytokinesis protein 6
Q96HP0	1648	1696	1587	2023	Domain	Note=DHR-2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00984
Q96HP0	1980	2033	1	2047	Chain	ID=PRO_0000189993;Note=Dedicator of cytokinesis protein 6
Q96HP0	1980	2033	1587	2023	Domain	Note=DHR-2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00984

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
Q96HP0	291	341	1	2047	Chain	ID=PRO_0000189993;Note=Dedicator of cytokinesis protein 6
Q96HP0	691	720	1	2047	Chain	ID=PRO_0000189993;Note=Dedicator of cytokinesis protein 6
Q96HP0	691	720	548	714	Domain	Note=DHR-1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00983
Q96HP0	906	938	1	2047	Chain	ID=PRO_0000189993;Note=Dedicator of cytokinesis protein 6
Q96HP0	1446	1497	1	2047	Chain	ID=PRO_0000189993;Note=Dedicator of cytokinesis protein 6
Q96HP0	1648	1696	1	2047	Chain	ID=PRO_0000189993;Note=Dedicator of cytokinesis protein 6
Q96HP0	1648	1696	1587	2023	Domain	Note=DHR-2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00984

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SNVs in the skipped exons for DOCK6

- 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_315080	11323852	11324004	11323948	11323948	Frame_Shift_Del	C	-	p.R1465fs
LIHC	TCGA-DD-A1EG-01	exon_skip_315084	11332527	11332696	11332626	11332626	Frame_Shift_Del	G	-	p.R1151fs
BRCA	TCGA-AN-A0XU-01	exon_skip_315101	11348317	11348455	11348396	11348396	Frame_Shift_Del	T	-	p.H631fs
BLCA	TCGA-DK-A1AE-01	exon_skip_315102	11348863	11348980	11348960	11348960	Frame_Shift_Del	G	-	p.P555fs
STAD	TCGA-D7-A4YY-01	exon_skip_315105	11356239	11356388	11356341	11356341	Frame_Shift_Del	C	-	p.G307fs
STAD	TCGA-D7-A4YY-01	exon_skip_315105	11356239	11356388	11356341	11356341	Frame_Shift_Del	C	-	p.L308fs
STAD	TCGA-HU-A4H3-01	exon_skip_315080	11323852	11324004	11323941	11323941	Nonsense_Mutation	G	A	p.R1468*
STAD	TCGA-HU-A4H3-01	exon_skip_315080	11323852	11324004	11323941	11323941	Nonsense_Mutation	G	A	p.R1468X

- 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
HSC3_UPPER_AERODIGESTIVE_TRACT	11310984	11311145	11311068	11311068	Frame_Shift_Del	T	-	p.N2006fs
OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11310984	11311145	11311023	11311023	Missense_Mutation	C	T	p.R2021H
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11310984	11311145	11311071	11311071	Missense_Mutation	C	T	p.R2005H
HCC1806_BREAST	11310984	11311145	11311071	11311071	Missense_Mutation	C	T	p.R2005H
MFE319_ENDOMETRIUM	11310984	11311145	11311111	11311111	Missense_Mutation	T	C	p.I1992V
SNU1040_LARGE_INTESTINE	11310984	11311145	11311134	11311134	Missense_Mutation	G	A	p.A1984V
LS411N_LARGE_INTESTINE	11310984	11311145	11311143	11311143	Missense_Mutation	C	T	p.C1981Y
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11319362	11319505	11319368	11319368	Missense_Mutation	G	T	p.F1694L
HEC1A_ENDOMETRIUM	11319362	11319505	11319453	11319453	Missense_Mutation	G	A	p.S1666L
HCC4006_LUNG	11323852	11324004	11323881	11323881	Missense_Mutation	G	A	p.L1488F
RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11323852	11324004	11323881	11323881	Missense_Mutation	G	A	p.L1488F
HEC1_ENDOMETRIUM	11323852	11324004	11323907	11323907	Missense_Mutation	G	A	p.T1479M
HEC6_ENDOMETRIUM	11323852	11324004	11323911	11323911	Missense_Mutation	G	A	p.R1478C
PEO1_OVARY	11323852	11324004	11323911	11323911	Missense_Mutation	G	C	p.R1478G
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11323852	11324004	11323940	11323940	Missense_Mutation	C	T	p.R1468Q
HUH6_LIVER	11323852	11324004	11323978	11323978	Missense_Mutation	G	T	p.D1455E
KYSE410_OESOPHAGUS	11323852	11324004	11324002	11324002	Missense_Mutation	G	T	p.F1447L
JHUEM1_ENDOMETRIUM	11332527	11332696	11332559	11332559	Missense_Mutation	C	T	p.R1173Q
NCIH250_LUNG	11332527	11332696	11332599	11332599	Missense_Mutation	G	A	p.R1160C
KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11332527	11332696	11332647	11332647	Missense_Mutation	A	G	p.C1144R
HEC265_ENDOMETRIUM	11332527	11332696	11332673	11332673	Missense_Mutation	G	A	p.A1135V
STM9101_SOFT_TISSUE	11347469	11347555	11347516	11347516	Missense_Mutation	C	T	p.G705S
PCI15A_UPPER_AERODIGESTIVE_TRACT	11348317	11348455	11348444	11348444	Missense_Mutation	A	T	p.F615Y
MB1_THYROID	11348863	11348980	11348891	11348891	Missense_Mutation	G	T	p.T578K
MB1_THYROID	11348863	11348980	11348893	11348893	Missense_Mutation	C	A	p.M577I
KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11348863	11348980	11348893	11348893	Missense_Mutation	C	T	p.M577I
NCIH2009_LUNG	11348863	11348980	11348976	11348976	Missense_Mutation	G	T	p.L550M
BICR56_UPPER_AERODIGESTIVE_TRACT	11356239	11356388	11356328	11356328	Missense_Mutation	G	A	p.H312Y
YAMATO_SOFT_TISSUE	11356239	11356388	11356333	11356333	Missense_Mutation	C	T	p.R310Q
SNU175_LARGE_INTESTINE	11356239	11356388	11356333	11356333	Missense_Mutation	C	T	p.R310Q

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DOCK6

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 DOCK6

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DOCK6

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RelatedDrugs for DOCK6

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 DOCK6

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 DOCK6

Exon skipping events across known transcript of Ensembl for DOCK6 from UCSC genome browser

Gene isoform structures and expression levels for DOCK6

Exon skipping events with PSIs in TCGA for DOCK6

Exon skipping events with PSIs in GTEx for DOCK6

Open reading frame (ORF) annotation in the exon skipping event for DOCK6

Infer the effects of exon skipping event on protein functional features for DOCK6

SNVs in the skipped exons for DOCK6

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DOCK6

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DOCK6

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DOCK6

RelatedDrugs for DOCK6

RelatedDiseases for DOCK6