ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for FES

Gene summary

Gene information	Gene symbol	FES
	Gene ID	2242
	Gene name	FES proto-oncogene, tyrosine kinase
	Synonyms	FPS
	Cytomap	15q26.1
	Type of gene	protein-coding
	Description	tyrosine-protein kinase Fes/FpsOncogene FES, feline sarcoma virusfeline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homologfeline sarcoma oncogenefeline sarcoma/Fujinami avian sarcoma oncogene homologp
	Modification date	20180523
	UniProtAcc	P07332
	Context	PubMed: FES [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
FES	GO:0018108	peptidyl-tyrosine phosphorylation	11509660\|15485904
FES	GO:0046777	protein autophosphorylation	7687763

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Exon skipping events across known transcript of Ensembl for FES 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 FES

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 FES

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_124977	15	91428275:91428488:91428641:91428815:91430190:91430245	91428641:91428815	ENSG00000182511.7	ENST00000328850.3,ENST00000452243.1,ENST00000464684.1,ENST00000444422.2,ENST00000559355.1
exon_skip_124979	15	91430416:91430600:91432535:91432673:91432746:91432866	91432535:91432673	ENSG00000182511.7	ENST00000328850.3,ENST00000394302.1,ENST00000464684.1,ENST00000414248.2,ENST00000450438.2,ENST00000444422.2,ENST00000394300.3
exon_skip_124982	15	91432535:91432673:91432746:91432866:91433069:91433169	91432746:91432866	ENSG00000182511.7	ENST00000328850.3,ENST00000394302.1,ENST00000464684.1,ENST00000414248.2,ENST00000450438.2,ENST00000444422.2,ENST00000394300.3
exon_skip_124986	15	91433630:91433714:91434211:91434411:91434729:91434906	91434211:91434411	ENSG00000182511.7	ENST00000464684.1
exon_skip_124988	15	91433636:91433714:91434211:91434421:91434783:91434906	91434211:91434421	ENSG00000182511.7	ENST00000328850.3,ENST00000394300.3
exon_skip_124991	15	91433636:91433714:91434783:91434906:91435287:91435341	91434783:91434906	ENSG00000182511.7	ENST00000496379.1,ENST00000394302.1,ENST00000414248.2,ENST00000450438.2,ENST00000444422.2
exon_skip_124994	15	91435936:91436055:91436329:91436424:91436520:91436644	91436329:91436424	ENSG00000182511.7	ENST00000328850.3,ENST00000464684.1,ENST00000414248.2,ENST00000450438.2,ENST00000444422.2,ENST00000394300.3
exon_skip_124996	15	91436520:91436644:91436883:91437041:91437165:91437288	91436883:91437041	ENSG00000182511.7	ENST00000328850.3,ENST00000394302.1,ENST00000414248.2,ENST00000450438.2,ENST00000444422.2,ENST00000394300.3
exon_skip_124997	15	91436883:91437041:91437165:91437288:91438645:91438828	91437165:91437288	ENSG00000182511.7	ENST00000328850.3,ENST00000394302.1,ENST00000414248.2,ENST00000450438.2,ENST00000444422.2,ENST00000394300.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for FES

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_124973	15	91427752:91427774:91428266:91428488:91430190:91430245	91428266:91428488	ENSG00000182511.7	ENST00000414248.2,ENST00000394302.1
exon_skip_124977	15	91428275:91428488:91428641:91428815:91430190:91430245	91428641:91428815	ENSG00000182511.7	ENST00000328850.3,ENST00000559355.1,ENST00000452243.1,ENST00000464684.1,ENST00000444422.2
exon_skip_124979	15	91430416:91430600:91432535:91432673:91432746:91432866	91432535:91432673	ENSG00000182511.7	ENST00000328850.3,ENST00000414248.2,ENST00000394302.1,ENST00000464684.1,ENST00000394300.3,ENST00000444422.2,ENST00000450438.2
exon_skip_124982	15	91432535:91432673:91432746:91432866:91433069:91433169	91432746:91432866	ENSG00000182511.7	ENST00000328850.3,ENST00000414248.2,ENST00000394302.1,ENST00000464684.1,ENST00000394300.3,ENST00000444422.2,ENST00000450438.2
exon_skip_124986	15	91433630:91433714:91434211:91434411:91434729:91434906	91434211:91434411	ENSG00000182511.7	ENST00000464684.1
exon_skip_124988	15	91433636:91433714:91434211:91434421:91434783:91434906	91434211:91434421	ENSG00000182511.7	ENST00000328850.3,ENST00000394300.3
exon_skip_124991	15	91433636:91433714:91434783:91434906:91435287:91435341	91434783:91434906	ENSG00000182511.7	ENST00000414248.2,ENST00000394302.1,ENST00000444422.2,ENST00000450438.2,ENST00000496379.1
exon_skip_124994	15	91435936:91436055:91436329:91436424:91436520:91436644	91436329:91436424	ENSG00000182511.7	ENST00000328850.3,ENST00000414248.2,ENST00000464684.1,ENST00000394300.3,ENST00000444422.2,ENST00000450438.2
exon_skip_124996	15	91436520:91436644:91436883:91437041:91437165:91437288	91436883:91437041	ENSG00000182511.7	ENST00000328850.3,ENST00000414248.2,ENST00000394302.1,ENST00000394300.3,ENST00000444422.2,ENST00000450438.2
exon_skip_124997	15	91436883:91437041:91437165:91437288:91438645:91438828	91437165:91437288	ENSG00000182511.7	ENST00000328850.3,ENST00000414248.2,ENST00000394302.1,ENST00000394300.3,ENST00000444422.2,ENST00000450438.2

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 FES

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
ENST00000328850	91436329	91436424	Frame-shift
ENST00000328850	91436883	91437041	Frame-shift
ENST00000328850	91428641	91428815	In-frame
ENST00000328850	91432535	91432673	In-frame
ENST00000328850	91432746	91432866	In-frame
ENST00000328850	91434211	91434421	In-frame
ENST00000328850	91437165	91437288	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
ENST00000328850	91436329	91436424	Frame-shift
ENST00000328850	91436883	91437041	Frame-shift
ENST00000328850	91428641	91428815	In-frame
ENST00000328850	91432535	91432673	In-frame
ENST00000328850	91432746	91432866	In-frame
ENST00000328850	91434211	91434421	In-frame
ENST00000328850	91437165	91437288	In-frame

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

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
ENST00000328850	2846	822	91428641	91428815	356	529	71	129
ENST00000328850	2846	822	91432535	91432673	811	948	223	268
ENST00000328850	2846	822	91432746	91432866	949	1068	269	308
ENST00000328850	2846	822	91434211	91434421	1463	1672	440	510
ENST00000328850	2846	822	91437165	91437288	2346	2468	734	775

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
ENST00000328850	2846	822	91428641	91428815	356	529	71	129
ENST00000328850	2846	822	91432535	91432673	811	948	223	268
ENST00000328850	2846	822	91432746	91432866	949	1068	269	308
ENST00000328850	2846	822	91434211	91434421	1463	1672	440	510
ENST00000328850	2846	822	91437165	91437288	2346	2468	734	775

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 FES

- 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
UCEC	TCGA-D1-A174-01	exon_skip_124991	91434784	91434906	91434851	91434851	Frame_Shift_Del	C	-	p.Q534fs
UCEC	TCGA-D1-A174-01	exon_skip_124991	91434784	91434906	91434851	91434851	Frame_Shift_Del	C	-	p.T533fs
STAD	TCGA-BR-8081-01	exon_skip_124982	91432747	91432866	91432867	91432867	Splice_Site	G	A	.
STAD	TCGA-BR-8081-01	exon_skip_124982	91432747	91432866	91432867	91432867	Splice_Site	G	A	p.T309_splice

- 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
R262_CENTRAL_NERVOUS_SYSTEM	91436884	91437041	91436886	91436886	Frame_Shift_Del	A	-	p.D683fs
U251MG_CENTRAL_NERVOUS_SYSTEM	91436884	91437041	91436886	91436886	Frame_Shift_Del	A	-	p.D683fs
OC316_OVARY	91436884	91437041	91436987	91436987	Frame_Shift_Del	G	-	p.G718fs
OC314_OVARY	91436884	91437041	91436987	91436987	Frame_Shift_Del	G	-	p.G718fs
HEC251_ENDOMETRIUM	91428642	91428815	91428682	91428682	Missense_Mutation	G	A	p.R85H
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91428642	91428815	91428682	91428682	Missense_Mutation	G	A	p.R85H
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91428642	91428815	91428697	91428697	Missense_Mutation	A	G	p.H90R
SNU175_LARGE_INTESTINE	91428642	91428815	91428741	91428741	Missense_Mutation	C	T	p.L105F
PSN1_PANCREAS	91428642	91428815	91428778	91428778	Missense_Mutation	G	A	p.S117N
HEC6_ENDOMETRIUM	91432536	91432673	91432628	91432628	Missense_Mutation	G	A	p.R254H
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91432536	91432673	91432664	91432664	Missense_Mutation	G	A	p.R266Q
C84_LARGE_INTESTINE	91432747	91432866	91432764	91432764	Missense_Mutation	C	T	p.P275L
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91432747	91432866	91432770	91432770	Missense_Mutation	G	A	p.C277Y
HT115_LARGE_INTESTINE	91432747	91432866	91432781	91432781	Missense_Mutation	G	A	p.D281N
OCIAML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91432747	91432866	91432800	91432800	Missense_Mutation	A	G	p.E287G
TE6_OESOPHAGUS	91434212	91434421	91434284	91434284	Missense_Mutation	A	G	p.I465V
TE6_OESOPHAGUS	91434212	91434411	91434284	91434284	Missense_Mutation	A	G	p.I465V
HEC1A_ENDOMETRIUM	91434212	91434421	91434393	91434393	Missense_Mutation	C	T	p.P501L
HEC1A_ENDOMETRIUM	91434212	91434411	91434393	91434393	Missense_Mutation	C	T	p.P501L
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91434784	91434906	91434802	91434802	Missense_Mutation	G	A	p.G517R
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91434784	91434906	91434823	91434823	Missense_Mutation	C	T	p.P524S
PEO1_OVARY	91434784	91434906	91434829	91434829	Missense_Mutation	C	T	p.L526F
PANC1_PANCREAS	91434784	91434906	91434835	91434835	Missense_Mutation	G	A	p.D528N
KP1N_PANCREAS	91434784	91434906	91434835	91434835	Missense_Mutation	G	A	p.D528N
KP1NL_PANCREAS	91434784	91434906	91434835	91434835	Missense_Mutation	G	A	p.D528N
IGROV1_OVARY	91436330	91436424	91436358	91436358	Missense_Mutation	A	G	p.I619V
SNU175_LARGE_INTESTINE	91436330	91436424	91436394	91436394	Missense_Mutation	C	G	p.P631A
SALE_LUNG	91436330	91436424	91436407	91436407	Missense_Mutation	T	A	p.V635D
CL34_LARGE_INTESTINE	91436884	91437041	91436898	91436898	Missense_Mutation	G	A	p.R687Q
OVMANA_OVARY	91437166	91437288	91437168	91437168	Missense_Mutation	C	T	p.R736C
BE2M17_AUTONOMIC_GANGLIA	91437166	91437288	91437168	91437168	Missense_Mutation	C	T	p.R736C
SKNBE2_AUTONOMIC_GANGLIA	91437166	91437288	91437168	91437168	Missense_Mutation	C	T	p.R736C
HEC59_ENDOMETRIUM	91437166	91437288	91437189	91437189	Missense_Mutation	G	A	p.V743M
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91437166	91437288	91437215	91437215	Missense_Mutation	G	T	p.W751C
PANC0327_PANCREAS	91428642	91428815	91428759	91428759	Nonsense_Mutation	C	T	p.Q111*
SNU1040_LARGE_INTESTINE	91432536	91432673	91432666	91432666	Nonsense_Mutation	C	T	p.Q267*
ESO51_OESOPHAGUS	91432747	91432866	91432829	91432829	Nonsense_Mutation	C	T	p.Q297*
MERO14_LUNG	91432747	91432866	91432829	91432829	Nonsense_Mutation	C	T	p.Q297*
SUPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	91432747	91432866	91432829	91432829	Nonsense_Mutation	C	T	p.Q297*

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

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
exon_skip_124977	15	91428275:91428488:91428641:91428815:91430190:91430245	91428641:91428815	ENST00000328850.3,ENST00000452243.1,ENST00000464684.1,ENST00000444422.2,ENST00000559355.1	LAML	rs7177338	chr15:91428636	G/A	1.56e-10
exon_skip_124977	15	91428275:91428488:91428641:91428815:91430190:91430245	91428641:91428815	ENST00000328850.3,ENST00000452243.1,ENST00000464684.1,ENST00000444422.2,ENST00000559355.1	KIRC	rs7177338	chr15:91428636	G/A	6.71e-17
exon_skip_124977	15	91428275:91428488:91428641:91428815:91430190:91430245	91428641:91428815	ENST00000328850.3,ENST00000452243.1,ENST00000464684.1,ENST00000444422.2,ENST00000559355.1	KIRC	rs7177338	chr15:91428636	G/A	1.97e-06
exon_skip_124977	15	91428275:91428488:91428641:91428815:91430190:91430245	91428641:91428815	ENST00000328850.3,ENST00000452243.1,ENST00000464684.1,ENST00000444422.2,ENST00000559355.1	LUAD	rs7177338	chr15:91428636	G/A	7.59e-09
exon_skip_124977	15	91428275:91428488:91428641:91428815:91430190:91430245	91428641:91428815	ENST00000328850.3,ENST00000452243.1,ENST00000464684.1,ENST00000444422.2,ENST00000559355.1	MESO	rs7177338	chr15:91428636	G/A	1.48e-04
exon_skip_124977	15	91428275:91428488:91428641:91428815:91430190:91430245	91428641:91428815	ENST00000328850.3,ENST00000452243.1,ENST00000464684.1,ENST00000444422.2,ENST00000559355.1	UVM	rs7177338	chr15:91428636	G/A	3.28e-04

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

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

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RelatedDrugs for FES

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
	P07332	DB12010	Fostamatinib	Tyrosine-protein kinase Fes/Fps	small molecule	approved\|investigational

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RelatedDiseases for FES

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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