ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ODF2

Gene summary

Gene information	Gene symbol	ODF2
	Gene ID	4957
	Gene name	outer dense fiber of sperm tails 2
	Synonyms	CT134\|ODF2/1\|ODF2/2\|ODF84
	Cytomap	9q34.11
	Type of gene	protein-coding
	Description	outer dense fiber protein 2cancer/testis antigen 134cenexin 1outer dense fiber of sperm tails, 84-kDsperm tail structural proteintestis tissue sperm-binding protein Li 51e
	Modification date	20180519
	UniProtAcc	Q5BJF6
	Context	PubMed: ODF2 [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 ODF2 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 ODF2

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 ODF2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_499685	9	131218486:131218534:131219476:131219716:131221845:131221936	131219476:131219716	ENSG00000136811.12	ENST00000444993.2,ENST00000604420.1,ENST00000469582.2,ENST00000393527.3
exon_skip_499688	9	131218744:131218855:131219476:131219716:131221845:131221936	131219476:131219716	ENSG00000136811.12	ENST00000434106.3,ENST00000432065.2,ENST00000446274.1
exon_skip_499692	9	131221845:131221936:131222436:131222578:131222828:131222945	131222436:131222578	ENSG00000136811.12	ENST00000393527.3
exon_skip_499695	9	131221845:131221936:131222791:131222945:131223220:131223289	131222791:131222945	ENSG00000136811.12	ENST00000448249.3,ENST00000469582.2,ENST00000535026.1
exon_skip_499697	9	131221845:131221936:131222828:131222945:131223220:131223289	131222828:131222945	ENSG00000136811.12	ENST00000444993.2,ENST00000351030.3
exon_skip_499700	9	131221845:131221936:131223220:131223289:131231461:131231513	131223220:131223289	ENSG00000136811.12	ENST00000372791.3,ENST00000546203.1,ENST00000446274.1
exon_skip_499701	9	131221845:131221936:131223220:131223346:131231461:131231513	131223220:131223346	ENSG00000136811.12	ENST00000393533.2,ENST00000604420.1,ENST00000434106.3,ENST00000470061.1,ENST00000372814.3,ENST00000497812.2
exon_skip_499702	9	131222837:131222945:131223220:131223289:131231461:131231513	131223220:131223289	ENSG00000136811.12	ENST00000444119.2,ENST00000393527.3
exon_skip_499703	9	131222837:131222945:131223220:131223346:131231461:131231513	131223220:131223346	ENSG00000136811.12	ENST00000469582.2,ENST00000351030.3,ENST00000372807.5
exon_skip_499707	9	131223220:131223289:131231461:131231632:131233586:131233625	131231461:131231632	ENSG00000136811.12	ENST00000372791.3,ENST00000546203.1,ENST00000444119.2,ENST00000393527.3,ENST00000446274.1
exon_skip_499709	9	131223220:131223289:131233586:131233747:131235191:131235321	131233586:131233747	ENSG00000136811.12	ENST00000448249.3,ENST00000432065.2
exon_skip_499714	9	131223220:131223346:131231461:131231632:131233586:131233625	131231461:131231632	ENSG00000136811.12	ENST00000393533.2,ENST00000604420.1,ENST00000434106.3,ENST00000372814.3,ENST00000497812.2,ENST00000351030.3,ENST00000372807.5
exon_skip_499717	9	131223220:131223346:131233586:131233747:131235191:131235321	131233586:131233747	ENSG00000136811.12	ENST00000421776.2
exon_skip_499722	9	131231461:131231632:131233586:131233747:131235191:131235321	131233586:131233747	ENSG00000136811.12	ENST00000393533.2,ENST00000604420.1,ENST00000372791.3,ENST00000546203.1,ENST00000434106.3,ENST00000444119.2,ENST00000393527.3,ENST00000372814.3,ENST00000351030.3,ENST00000372807.5
exon_skip_499727	9	131243858:131243930:131245094:131245166:131246216:131246278	131245094:131245166	ENSG00000136811.12	ENST00000421776.2,ENST00000393533.2,ENST00000448249.3,ENST00000604420.1,ENST00000372791.3,ENST00000546203.1,ENST00000434106.3,ENST00000444119.2,ENST00000393527.3,ENST00000372814.3,ENST00000535026.1,ENST00000351030.3,ENST00000372807.5
exon_skip_499728	9	131245094:131245166:131246216:131246333:131246979:131247165	131246216:131246333	ENSG00000136811.12	ENST00000421776.2,ENST00000393533.2,ENST00000448249.3,ENST00000604420.1,ENST00000372791.3,ENST00000546203.1,ENST00000434106.3,ENST00000444119.2,ENST00000393527.3,ENST00000372814.3,ENST00000351030.3,ENST00000372807.5
exon_skip_499729	9	131246979:131247165:131247643:131247753:131250168:131250304	131247643:131247753	ENSG00000136811.12	ENST00000393533.2,ENST00000448249.3,ENST00000604420.1,ENST00000372791.3,ENST00000546203.1,ENST00000434106.3,ENST00000444119.2,ENST00000393527.3,ENST00000372814.3,ENST00000351030.3,ENST00000372807.5
exon_skip_499730	9	131247643:131247753:131250168:131250304:131254704:131254815	131250168:131250304	ENSG00000136811.12	ENST00000393533.2,ENST00000448249.3,ENST00000604420.1,ENST00000372791.3,ENST00000546203.1,ENST00000434106.3,ENST00000444119.2,ENST00000393527.3,ENST00000372814.3,ENST00000351030.3,ENST00000372807.5
exon_skip_499733	9	131256788:131256947:131258319:131258420:131260691:131260854	131258319:131258420	ENSG00000136811.12	ENST00000604420.1,ENST00000434106.3,ENST00000444119.2,ENST00000393527.3,ENST00000351030.3,ENST00000372807.5
exon_skip_499734	9	131256788:131256947:131258319:131258576:131260691:131260854	131258319:131258576	ENSG00000136811.12	ENST00000483070.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ODF2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_499685	9	131218486:131218534:131219476:131219716:131221845:131221936	131219476:131219716	ENSG00000136811.12	ENST00000469582.2,ENST00000444993.2,ENST00000604420.1,ENST00000393527.3
exon_skip_499688	9	131218744:131218855:131219476:131219716:131221845:131221936	131219476:131219716	ENSG00000136811.12	ENST00000434106.3,ENST00000446274.1,ENST00000432065.2
exon_skip_499692	9	131221845:131221936:131222436:131222578:131222828:131222945	131222436:131222578	ENSG00000136811.12	ENST00000393527.3
exon_skip_499695	9	131221845:131221936:131222791:131222945:131223220:131223289	131222791:131222945	ENSG00000136811.12	ENST00000469582.2,ENST00000535026.1,ENST00000448249.3
exon_skip_499697	9	131221845:131221936:131222828:131222945:131223220:131223289	131222828:131222945	ENSG00000136811.12	ENST00000444993.2,ENST00000351030.3
exon_skip_499700	9	131221845:131221936:131223220:131223289:131231461:131231513	131223220:131223289	ENSG00000136811.12	ENST00000546203.1,ENST00000446274.1,ENST00000372791.3
exon_skip_499701	9	131221845:131221936:131223220:131223346:131231461:131231513	131223220:131223346	ENSG00000136811.12	ENST00000497812.2,ENST00000393533.2,ENST00000372814.3,ENST00000604420.1,ENST00000434106.3,ENST00000470061.1
exon_skip_499702	9	131222837:131222945:131223220:131223289:131231461:131231513	131223220:131223289	ENSG00000136811.12	ENST00000393527.3,ENST00000444119.2
exon_skip_499703	9	131222837:131222945:131223220:131223346:131231461:131231513	131223220:131223346	ENSG00000136811.12	ENST00000469582.2,ENST00000351030.3,ENST00000372807.5
exon_skip_499707	9	131223220:131223289:131231461:131231632:131233586:131233625	131231461:131231632	ENSG00000136811.12	ENST00000393527.3,ENST00000546203.1,ENST00000446274.1,ENST00000372791.3,ENST00000444119.2
exon_skip_499709	9	131223220:131223289:131233586:131233747:131235191:131235321	131233586:131233747	ENSG00000136811.12	ENST00000448249.3,ENST00000432065.2
exon_skip_499714	9	131223220:131223346:131231461:131231632:131233586:131233625	131231461:131231632	ENSG00000136811.12	ENST00000497812.2,ENST00000393533.2,ENST00000372814.3,ENST00000351030.3,ENST00000604420.1,ENST00000434106.3,ENST00000372807.5
exon_skip_499717	9	131223220:131223346:131233586:131233747:131235191:131235321	131233586:131233747	ENSG00000136811.12	ENST00000421776.2
exon_skip_499722	9	131231461:131231632:131233586:131233747:131235191:131235321	131233586:131233747	ENSG00000136811.12	ENST00000393533.2,ENST00000372814.3,ENST00000351030.3,ENST00000604420.1,ENST00000393527.3,ENST00000434106.3,ENST00000546203.1,ENST00000372791.3,ENST00000444119.2,ENST00000372807.5
exon_skip_499727	9	131243858:131243930:131245094:131245166:131246216:131246278	131245094:131245166	ENSG00000136811.12	ENST00000393533.2,ENST00000372814.3,ENST00000351030.3,ENST00000604420.1,ENST00000535026.1,ENST00000448249.3,ENST00000393527.3,ENST00000434106.3,ENST00000546203.1,ENST00000421776.2,ENST00000372791.3,ENST00000444119.2,ENST00000372807.5
exon_skip_499728	9	131245094:131245166:131246216:131246333:131246979:131247165	131246216:131246333	ENSG00000136811.12	ENST00000393533.2,ENST00000372814.3,ENST00000351030.3,ENST00000604420.1,ENST00000448249.3,ENST00000393527.3,ENST00000434106.3,ENST00000546203.1,ENST00000421776.2,ENST00000372791.3,ENST00000444119.2,ENST00000372807.5
exon_skip_499729	9	131246979:131247165:131247643:131247753:131250168:131250304	131247643:131247753	ENSG00000136811.12	ENST00000393533.2,ENST00000372814.3,ENST00000351030.3,ENST00000604420.1,ENST00000448249.3,ENST00000393527.3,ENST00000434106.3,ENST00000546203.1,ENST00000372791.3,ENST00000444119.2,ENST00000372807.5
exon_skip_499730	9	131247643:131247753:131250168:131250304:131254704:131254815	131250168:131250304	ENSG00000136811.12	ENST00000393533.2,ENST00000372814.3,ENST00000351030.3,ENST00000604420.1,ENST00000448249.3,ENST00000393527.3,ENST00000434106.3,ENST00000546203.1,ENST00000372791.3,ENST00000444119.2,ENST00000372807.5
exon_skip_499733	9	131256788:131256947:131258319:131258420:131260691:131260854	131258319:131258420	ENSG00000136811.12	ENST00000351030.3,ENST00000604420.1,ENST00000393527.3,ENST00000434106.3,ENST00000444119.2,ENST00000372807.5
exon_skip_499734	9	131256788:131256947:131258319:131258576:131260691:131260854	131258319:131258576	ENSG00000136811.12	ENST00000483070.2

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 ODF2

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
ENST00000434106	131219476	131219716	5CDS-5UTR
ENST00000604420	131219476	131219716	5CDS-5UTR
ENST00000434106	131233586	131233747	Frame-shift
ENST00000604420	131233586	131233747	Frame-shift
ENST00000434106	131247643	131247753	Frame-shift
ENST00000604420	131247643	131247753	Frame-shift
ENST00000434106	131250168	131250304	Frame-shift
ENST00000604420	131250168	131250304	Frame-shift
ENST00000434106	131258319	131258420	Frame-shift
ENST00000604420	131258319	131258420	Frame-shift
ENST00000434106	131223220	131223346	In-frame
ENST00000604420	131223220	131223346	In-frame
ENST00000434106	131231461	131231632	In-frame
ENST00000604420	131231461	131231632	In-frame
ENST00000434106	131245094	131245166	In-frame
ENST00000604420	131245094	131245166	In-frame
ENST00000434106	131246216	131246333	In-frame
ENST00000604420	131246216	131246333	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
ENST00000434106	131219476	131219716	5CDS-5UTR
ENST00000604420	131219476	131219716	5CDS-5UTR
ENST00000434106	131233586	131233747	Frame-shift
ENST00000604420	131233586	131233747	Frame-shift
ENST00000434106	131247643	131247753	Frame-shift
ENST00000604420	131247643	131247753	Frame-shift
ENST00000434106	131250168	131250304	Frame-shift
ENST00000604420	131250168	131250304	Frame-shift
ENST00000434106	131258319	131258420	Frame-shift
ENST00000604420	131258319	131258420	Frame-shift
ENST00000434106	131223220	131223346	In-frame
ENST00000604420	131223220	131223346	In-frame
ENST00000434106	131231461	131231632	In-frame
ENST00000604420	131231461	131231632	In-frame
ENST00000434106	131245094	131245166	In-frame
ENST00000604420	131245094	131245166	In-frame
ENST00000434106	131246216	131246333	In-frame
ENST00000604420	131246216	131246333	In-frame

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Infer the effects of exon skipping event on protein functional features for ODF2

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
ENST00000434106	3907	829	131223220	131223346	487	612	41	83
ENST00000604420	3047	829	131223220	131223346	436	561	41	83
ENST00000434106	3907	829	131231461	131231632	613	783	83	140
ENST00000604420	3047	829	131231461	131231632	562	732	83	140
ENST00000434106	3907	829	131245094	131245166	1279	1350	305	329
ENST00000604420	3047	829	131245094	131245166	1228	1299	305	329
ENST00000434106	3907	829	131246216	131246333	1351	1467	329	368
ENST00000604420	3047	829	131246216	131246333	1300	1416	329	368

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
ENST00000434106	3907	829	131223220	131223346	487	612	41	83
ENST00000604420	3047	829	131223220	131223346	436	561	41	83
ENST00000434106	3907	829	131231461	131231632	613	783	83	140
ENST00000604420	3047	829	131231461	131231632	562	732	83	140
ENST00000434106	3907	829	131245094	131245166	1279	1350	305	329
ENST00000604420	3047	829	131245094	131245166	1228	1299	305	329
ENST00000434106	3907	829	131246216	131246333	1351	1467	329	368
ENST00000604420	3047	829	131246216	131246333	1300	1416	329	368

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 ODF2

- 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.

ODF2_COAD_exon_skip_499695_psi_boxplot.png
boxplot

ODF2_PAAD_exon_skip_499695_psi_boxplot.png
boxplot

ODF2_PAAD_exon_skip_499697_psi_boxplot.png
boxplot

ODF2_STAD_exon_skip_499695_psi_boxplot.png
boxplot

ODF2_STAD_exon_skip_499697_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
STAD	TCGA-HU-A4GQ-01	exon_skip_499695	131222792	131222945	131222859	131222859	Frame_Shift_Del	C	-	p.T95fs
STAD	TCGA-HU-A4GQ-01	exon_skip_499697	131222829	131222945	131222859	131222859	Frame_Shift_Del	C	-	p.T95fs
COAD	TCGA-AD-6964-01	exon_skip_499695	131222792	131222945	131222909	131222909	Frame_Shift_Del	A	-	p.I112fs
COAD	TCGA-AD-6964-01	exon_skip_499697	131222829	131222945	131222909	131222909	Frame_Shift_Del	A	-	p.I112fs
PRAD	TCGA-2A-A8W1-01	exon_skip_499695	131222792	131222945	131222909	131222909	Frame_Shift_Del	A	-	p.I24fs
PRAD	TCGA-2A-A8W1-01	exon_skip_499697	131222829	131222945	131222909	131222909	Frame_Shift_Del	A	-	p.I24fs
STAD	TCGA-BR-4361-01	exon_skip_499695	131222792	131222945	131222909	131222909	Frame_Shift_Del	A	-	p.I112fs
STAD	TCGA-BR-4361-01	exon_skip_499697	131222829	131222945	131222909	131222909	Frame_Shift_Del	A	-	p.I112fs
COAD	TCGA-D5-6930-01	exon_skip_499701 exon_skip_499703	131223221	131223346	131223302	131223302	Frame_Shift_Del	C	-	p.M68fs
LIHC	TCGA-DD-A3A0-01	exon_skip_499701 exon_skip_499703	131223221	131223346	131223302	131223302	Frame_Shift_Del	C	-	p.P70fs
LUAD	TCGA-17-Z022-01	exon_skip_499728	131246217	131246333	131246315	131246315	Frame_Shift_Del	C	-	p.R338fs
KIRP	TCGA-B1-A47M-01	exon_skip_499730	131250169	131250304	131250301	131250301	Frame_Shift_Del	G	-	p.L511fs
KIRP	TCGA-B1-A47M-01	exon_skip_499730	131250169	131250304	131250301	131250301	Frame_Shift_Del	G	-	p.L575fs
STAD	TCGA-VQ-A8P2-01	exon_skip_499701 exon_skip_499703	131223221	131223346	131223343	131223343	Nonsense_Mutation	G	A	p.W82*
PAAD	TCGA-IB-7651-01	exon_skip_499695	131222792	131222945	131222946	131222946	Splice_Site	G	A	.
PAAD	TCGA-IB-7651-01	exon_skip_499697	131222829	131222945	131222946	131222946	Splice_Site	G	A	.
UCEC	TCGA-AP-A059-01	exon_skip_499700 exon_skip_499702	131223221	131223289	131223220	131223220	Splice_Site	G	T	e2-1
UCEC	TCGA-AP-A059-01	exon_skip_499701 exon_skip_499703	131223221	131223346	131223220	131223220	Splice_Site	G	T	e2-1

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-AP-A059-01
	Cancer type: UCEC
	ESID: exon_skip_499702
	Skipped exon start: 131223221
	Skipped exon end: 131223289
	Mutation start: 131223220
	Mutation end: 131223220
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: T
	AAchange: e2-1
	Sample: TCGA-AP-A059-01
	Cancer type: UCEC
	ESID: exon_skip_499703
	Skipped exon start: 131223221
	Skipped exon end: 131223346
	Mutation start: 131223220
	Mutation end: 131223220
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: T
	AAchange: e2-1
exon_skip_109805_UCEC_TCGA-AP-A059-01.png
exon_skip_115311_UCEC_TCGA-AP-A059-01.png
exon_skip_24581_UCEC_TCGA-AP-A059-01.png
exon_skip_24582_UCEC_TCGA-AP-A059-01.png
exon_skip_24584_UCEC_TCGA-AP-A059-01.png
exon_skip_288059_UCEC_TCGA-AP-A059-01.png
exon_skip_304943_UCEC_TCGA-AP-A059-01.png
exon_skip_390430_UCEC_TCGA-AP-A059-01.png
exon_skip_477308_UCEC_TCGA-AP-A059-01.png
exon_skip_479028_UCEC_TCGA-AP-A059-01.png
exon_skip_484819_UCEC_TCGA-AP-A059-01.png
exon_skip_497317_UCEC_TCGA-AP-A059-01.png
exon_skip_499703_UCEC_TCGA-AP-A059-01.png
exon_skip_512666_UCEC_TCGA-AP-A059-01.png
exon_skip_5195_UCEC_TCGA-AP-A059-01.png
exon_skip_57355_UCEC_TCGA-AP-A059-01.png
exon_skip_5754_UCEC_TCGA-AP-A059-01.png
exon_skip_71021_UCEC_TCGA-AP-A059-01.png
exon_skip_89692_UCEC_TCGA-AP-A059-01.png
	Sample: TCGA-IB-7651-01
	Cancer type: PAAD
	ESID: exon_skip_499697
	Skipped exon start: 131222829
	Skipped exon end: 131222945
	Mutation start: 131222946
	Mutation end: 131222946
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: .
	Sample: TCGA-IB-7651-01
	Cancer type: PAAD
	ESID: exon_skip_499695
	Skipped exon start: 131222792
	Skipped exon end: 131222945
	Mutation start: 131222946
	Mutation end: 131222946
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: .
exon_skip_113241_PAAD_TCGA-IB-7651-01.png
exon_skip_115380_PAAD_TCGA-IB-7651-01.png
exon_skip_124564_PAAD_TCGA-IB-7651-01.png
exon_skip_135806_PAAD_TCGA-IB-7651-01.png
exon_skip_139341_PAAD_TCGA-IB-7651-01.png
exon_skip_153733_PAAD_TCGA-IB-7651-01.png
exon_skip_155805_PAAD_TCGA-IB-7651-01.png
exon_skip_18053_PAAD_TCGA-IB-7651-01.png
exon_skip_18056_PAAD_TCGA-IB-7651-01.png
exon_skip_23067_PAAD_TCGA-IB-7651-01.png
exon_skip_287059_PAAD_TCGA-IB-7651-01.png
exon_skip_294631_PAAD_TCGA-IB-7651-01.png
exon_skip_298512_PAAD_TCGA-IB-7651-01.png
exon_skip_306900_PAAD_TCGA-IB-7651-01.png
exon_skip_307723_PAAD_TCGA-IB-7651-01.png
exon_skip_315960_PAAD_TCGA-IB-7651-01.png
exon_skip_324675_PAAD_TCGA-IB-7651-01.png
exon_skip_330351_PAAD_TCGA-IB-7651-01.png
exon_skip_334330_PAAD_TCGA-IB-7651-01.png
exon_skip_341784_PAAD_TCGA-IB-7651-01.png
exon_skip_343314_PAAD_TCGA-IB-7651-01.png
exon_skip_348329_PAAD_TCGA-IB-7651-01.png
exon_skip_354232_PAAD_TCGA-IB-7651-01.png
exon_skip_370626_PAAD_TCGA-IB-7651-01.png
exon_skip_377740_PAAD_TCGA-IB-7651-01.png
exon_skip_385032_PAAD_TCGA-IB-7651-01.png
exon_skip_390031_PAAD_TCGA-IB-7651-01.png
exon_skip_422548_PAAD_TCGA-IB-7651-01.png
exon_skip_424536_PAAD_TCGA-IB-7651-01.png
exon_skip_431753_PAAD_TCGA-IB-7651-01.png
exon_skip_432982_PAAD_TCGA-IB-7651-01.png
exon_skip_435489_PAAD_TCGA-IB-7651-01.png
exon_skip_435729_PAAD_TCGA-IB-7651-01.png
exon_skip_441705_PAAD_TCGA-IB-7651-01.png
exon_skip_448879_PAAD_TCGA-IB-7651-01.png
exon_skip_468347_PAAD_TCGA-IB-7651-01.png
exon_skip_494000_PAAD_TCGA-IB-7651-01.png
exon_skip_494029_PAAD_TCGA-IB-7651-01.png
exon_skip_499410_PAAD_TCGA-IB-7651-01.png
exon_skip_499695_PAAD_TCGA-IB-7651-01.png
exon_skip_499697_PAAD_TCGA-IB-7651-01.png
exon_skip_79905_PAAD_TCGA-IB-7651-01.png
exon_skip_80096_PAAD_TCGA-IB-7651-01.png
exon_skip_95924_PAAD_TCGA-IB-7651-01.png
	Sample: TCGA-IB-7651-01
	Cancer type: PAAD
	ESID: exon_skip_499697
	Skipped exon start: 131222829
	Skipped exon end: 131222945
	Mutation start: 131222946
	Mutation end: 131222946
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: .
	Sample: TCGA-IB-7651-01
	Cancer type: PAAD
	ESID: exon_skip_499695
	Skipped exon start: 131222792
	Skipped exon end: 131222945
	Mutation start: 131222946
	Mutation end: 131222946
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: .
exon_skip_113241_PAAD_TCGA-IB-7651-01.png
exon_skip_115380_PAAD_TCGA-IB-7651-01.png
exon_skip_124564_PAAD_TCGA-IB-7651-01.png
exon_skip_135806_PAAD_TCGA-IB-7651-01.png
exon_skip_139341_PAAD_TCGA-IB-7651-01.png
exon_skip_153733_PAAD_TCGA-IB-7651-01.png
exon_skip_155805_PAAD_TCGA-IB-7651-01.png
exon_skip_18053_PAAD_TCGA-IB-7651-01.png
exon_skip_18056_PAAD_TCGA-IB-7651-01.png
exon_skip_23067_PAAD_TCGA-IB-7651-01.png
exon_skip_287059_PAAD_TCGA-IB-7651-01.png
exon_skip_294631_PAAD_TCGA-IB-7651-01.png
exon_skip_298512_PAAD_TCGA-IB-7651-01.png
exon_skip_306900_PAAD_TCGA-IB-7651-01.png
exon_skip_307723_PAAD_TCGA-IB-7651-01.png
exon_skip_315960_PAAD_TCGA-IB-7651-01.png
exon_skip_324675_PAAD_TCGA-IB-7651-01.png
exon_skip_330351_PAAD_TCGA-IB-7651-01.png
exon_skip_334330_PAAD_TCGA-IB-7651-01.png
exon_skip_341784_PAAD_TCGA-IB-7651-01.png
exon_skip_343314_PAAD_TCGA-IB-7651-01.png
exon_skip_348329_PAAD_TCGA-IB-7651-01.png
exon_skip_354232_PAAD_TCGA-IB-7651-01.png
exon_skip_370626_PAAD_TCGA-IB-7651-01.png
exon_skip_377740_PAAD_TCGA-IB-7651-01.png
exon_skip_385032_PAAD_TCGA-IB-7651-01.png
exon_skip_390031_PAAD_TCGA-IB-7651-01.png
exon_skip_422548_PAAD_TCGA-IB-7651-01.png
exon_skip_424536_PAAD_TCGA-IB-7651-01.png
exon_skip_431753_PAAD_TCGA-IB-7651-01.png
exon_skip_432982_PAAD_TCGA-IB-7651-01.png
exon_skip_435489_PAAD_TCGA-IB-7651-01.png
exon_skip_435729_PAAD_TCGA-IB-7651-01.png
exon_skip_441705_PAAD_TCGA-IB-7651-01.png
exon_skip_448879_PAAD_TCGA-IB-7651-01.png
exon_skip_468347_PAAD_TCGA-IB-7651-01.png
exon_skip_494000_PAAD_TCGA-IB-7651-01.png
exon_skip_494029_PAAD_TCGA-IB-7651-01.png
exon_skip_499410_PAAD_TCGA-IB-7651-01.png
exon_skip_499695_PAAD_TCGA-IB-7651-01.png
exon_skip_499697_PAAD_TCGA-IB-7651-01.png
exon_skip_79905_PAAD_TCGA-IB-7651-01.png
exon_skip_80096_PAAD_TCGA-IB-7651-01.png
exon_skip_95924_PAAD_TCGA-IB-7651-01.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
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	131219477	131219716	131219689	131219689	Missense_Mutation	C	T	p.S2F
HEC59_ENDOMETRIUM	131219477	131219716	131219709	131219709	Missense_Mutation	T	C	p.S9P
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	131223221	131223346	131223327	131223327	Missense_Mutation	C	A	p.P77H
BICR18_UPPER_AERODIGESTIVE_TRACT	131223221	131223346	131223327	131223327	Missense_Mutation	C	A	p.P77H
S117_SOFT_TISSUE	131223221	131223346	131223327	131223327	Missense_Mutation	C	A	p.P77H
CW2_LARGE_INTESTINE	131223221	131223346	131223329	131223329	Missense_Mutation	G	A	p.V78M
KM12_LARGE_INTESTINE	131231462	131231632	131231484	131231484	Missense_Mutation	T	C	p.I91T
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	131231462	131231632	131231610	131231610	Missense_Mutation	C	T	p.A133V
HEC6_ENDOMETRIUM	131233587	131233747	131233599	131233599	Missense_Mutation	A	G	p.K145E
2313287_STOMACH	131233587	131233747	131233638	131233638	Missense_Mutation	C	T	p.R158W
GEO_LARGE_INTESTINE	131233587	131233747	131233716	131233716	Missense_Mutation	G	A	p.E184K
MRKNU1_BREAST	131233587	131233747	131233722	131233722	Missense_Mutation	A	T	p.M186L
SNU1272_KIDNEY	131245095	131245166	131245147	131245147	Missense_Mutation	A	G	p.Q323R
OC316_OVARY	131245095	131245166	131245153	131245153	Missense_Mutation	T	C	p.I325T
OC314_OVARY	131245095	131245166	131245153	131245153	Missense_Mutation	T	C	p.I325T
DMS454_LUNG	131246217	131246333	131246276	131246276	Missense_Mutation	G	T	p.L349F
NCIH748_LUNG	131246217	131246333	131246313	131246313	Missense_Mutation	C	T	p.R362C
NCIH1930_LUNG	131246217	131246333	131246322	131246322	Missense_Mutation	A	T	p.M365L
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	131250169	131250304	131250244	131250244	Missense_Mutation	G	C	p.E492D
COLO741_SKIN	131250169	131250304	131250260	131250260	Missense_Mutation	A	C	p.T498P
SF268_CENTRAL_NERVOUS_SYSTEM	131250169	131250304	131250276	131250276	Missense_Mutation	C	T	p.A503V
HUG1N_STOMACH	131258320	131258576	131258331	131258331	Missense_Mutation	G	C	p.Q641H
HUG1N_STOMACH	131258320	131258420	131258331	131258331	Missense_Mutation	G	C	p.Q641H
CW2_LARGE_INTESTINE	131258320	131258576	131258351	131258351	Missense_Mutation	C	T	p.A648V
CW2_LARGE_INTESTINE	131258320	131258420	131258351	131258351	Missense_Mutation	C	T	p.A648V
CAL72_BONE	131258320	131258576	131258367	131258368	Missense_Mutation	GG	CT	p.653_654QA>HS
CAL72_BONE	131258320	131258420	131258367	131258368	Missense_Mutation	GG	CT	p.653_654QA>HS
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	131258320	131258576	131258399	131258399	Missense_Mutation	T	A	p.L664Q
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	131258320	131258420	131258399	131258399	Missense_Mutation	T	A	p.L664Q
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	131258320	131258576	131258399	131258399	Missense_Mutation	T	A	p.L664Q
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	131258320	131258420	131258399	131258399	Missense_Mutation	T	A	p.L664Q
S117_SOFT_TISSUE	131258320	131258576	131258399	131258399	Missense_Mutation	T	A	p.L664Q
S117_SOFT_TISSUE	131258320	131258420	131258399	131258399	Missense_Mutation	T	A	p.L664Q
BICR18_UPPER_AERODIGESTIVE_TRACT	131258320	131258576	131258399	131258399	Missense_Mutation	T	A	p.L664Q
BICR18_UPPER_AERODIGESTIVE_TRACT	131258320	131258420	131258399	131258399	Missense_Mutation	T	A	p.L664Q
HA7RCC_KIDNEY	131250169	131250304	131250304	131250304	Splice_Site	G	A	p.K512K

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ODF2

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 ODF2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ODF2

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RelatedDrugs for ODF2

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 ODF2

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 ODF2

Exon skipping events across known transcript of Ensembl for ODF2 from UCSC genome browser

Gene isoform structures and expression levels for ODF2

Exon skipping events with PSIs in TCGA for ODF2

Exon skipping events with PSIs in GTEx for ODF2

Open reading frame (ORF) annotation in the exon skipping event for ODF2

Infer the effects of exon skipping event on protein functional features for ODF2

SNVs in the skipped exons for ODF2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ODF2

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ODF2

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ODF2

RelatedDrugs for ODF2

RelatedDiseases for ODF2