ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for CBLB

Gene summary

Gene information	Gene symbol	CBLB
	Gene ID	868
	Gene name	Cbl proto-oncogene B
	Synonyms	Cbl-b\|Nbla00127\|RNF56
	Cytomap	3q13.11
	Type of gene	protein-coding
	Description	E3 ubiquitin-protein ligase CBL-BCas-Br-M (murine) ecotropic retroviral transforming sequence bCbl proto-oncogene B, E3 ubiquitin protein ligaseCbl proto-oncogene, E3 ubiquitin protein ligase BRING finger protein 56RING-type E3 ubiquitin transferase
	Modification date	20180523
	UniProtAcc	Q13191
	Context	PubMed: CBLB [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 CBLB 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 CBLB

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 CBLB

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_386233	3	105377280:105378073:105389076:105389196:105397274:105397415	105389076:105389196	ENSG00000114423.14	ENST00000407712.1,ENST00000394027.3,ENST00000264122.4,ENST00000394030.2
exon_skip_386251	3	105389076:105389196:105397274:105397415:105400322:105400454	105397274:105397415	ENSG00000114423.14	ENST00000264122.4
exon_skip_386254	3	105397274:105397415:105400322:105400454:105400567:105400662	105400322:105400454	ENSG00000114423.14	ENST00000264122.4
exon_skip_386257	3	105400567:105400662:105404163:105404310:105412337:105412432	105404163:105404310	ENSG00000114423.14	ENST00000394027.3,ENST00000405772.1,ENST00000264122.4,ENST00000394030.2,ENST00000403724.1
exon_skip_386258	3	105412337:105412432:105420937:105421303:105422831:105423017	105420937:105421303	ENSG00000114423.14	ENST00000394027.3,ENST00000405772.1,ENST00000264122.4,ENST00000403724.1
exon_skip_386261	3	105422831:105423017:105438890:105439094:105452852:105452984	105438890:105439094	ENSG00000114423.14	ENST00000394027.3,ENST00000405772.1,ENST00000264122.4,ENST00000403724.1
exon_skip_386262	3	105438903:105439094:105442869:105443033:105452852:105452984	105442869:105443033	ENSG00000114423.14	ENST00000545639.1
exon_skip_386266	3	105464760:105464882:105468465:105468609:105470305:105470462	105468465:105468609	ENSG00000114423.14	ENST00000545639.1
exon_skip_386267	3	105464760:105464882:105470305:105470462:105495239:105495386	105470305:105470462	ENSG00000114423.14	ENST00000394027.3,ENST00000405772.1,ENST00000264122.4,ENST00000403724.1
exon_skip_386269	3	105470305:105470462:105495239:105495386:105572257:105572508	105495239:105495386	ENSG00000114423.14	ENST00000394027.3,ENST00000405772.1,ENST00000264122.4,ENST00000403724.1
exon_skip_386272	3	105495239:105495386:105572257:105572508:105586253:105586435	105572257:105572508	ENSG00000114423.14	ENST00000394027.3,ENST00000405772.1,ENST00000264122.4,ENST00000403724.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for CBLB

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_386233	3	105377280:105378073:105389076:105389196:105397274:105397415	105389076:105389196	ENSG00000114423.14	ENST00000394030.2,ENST00000264122.4,ENST00000407712.1,ENST00000394027.3
exon_skip_386251	3	105389076:105389196:105397274:105397415:105400322:105400454	105397274:105397415	ENSG00000114423.14	ENST00000264122.4
exon_skip_386254	3	105397274:105397415:105400322:105400454:105400567:105400662	105400322:105400454	ENSG00000114423.14	ENST00000264122.4
exon_skip_386257	3	105400567:105400662:105404163:105404310:105412337:105412432	105404163:105404310	ENSG00000114423.14	ENST00000394030.2,ENST00000264122.4,ENST00000394027.3,ENST00000403724.1,ENST00000405772.1
exon_skip_386258	3	105412337:105412432:105420937:105421303:105422831:105423017	105420937:105421303	ENSG00000114423.14	ENST00000264122.4,ENST00000394027.3,ENST00000403724.1,ENST00000405772.1
exon_skip_386261	3	105422831:105423017:105438890:105439094:105452852:105452984	105438890:105439094	ENSG00000114423.14	ENST00000264122.4,ENST00000394027.3,ENST00000403724.1,ENST00000405772.1
exon_skip_386262	3	105438903:105439094:105442869:105443033:105452852:105452984	105442869:105443033	ENSG00000114423.14	ENST00000545639.1
exon_skip_386266	3	105464760:105464882:105468465:105468609:105470305:105470462	105468465:105468609	ENSG00000114423.14	ENST00000545639.1
exon_skip_386267	3	105464760:105464882:105470305:105470462:105495239:105495386	105470305:105470462	ENSG00000114423.14	ENST00000264122.4,ENST00000394027.3,ENST00000403724.1,ENST00000405772.1
exon_skip_386269	3	105470305:105470462:105495239:105495386:105572257:105572508	105495239:105495386	ENSG00000114423.14	ENST00000264122.4,ENST00000394027.3,ENST00000403724.1,ENST00000405772.1
exon_skip_386272	3	105495239:105495386:105572257:105572508:105586253:105586435	105572257:105572508	ENSG00000114423.14	ENST00000264122.4,ENST00000394027.3,ENST00000403724.1,ENST00000405772.1

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 CBLB

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
ENST00000264122	105470305	105470462	Frame-shift
ENST00000264122	105572257	105572508	Frame-shift
ENST00000264122	105389076	105389196	In-frame
ENST00000264122	105397274	105397415	In-frame
ENST00000264122	105400322	105400454	In-frame
ENST00000264122	105404163	105404310	In-frame
ENST00000264122	105420937	105421303	In-frame
ENST00000264122	105438890	105439094	In-frame
ENST00000264122	105495239	105495386	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
ENST00000264122	105470305	105470462	Frame-shift
ENST00000264122	105572257	105572508	Frame-shift
ENST00000264122	105389076	105389196	In-frame
ENST00000264122	105397274	105397415	In-frame
ENST00000264122	105400322	105400454	In-frame
ENST00000264122	105404163	105404310	In-frame
ENST00000264122	105420937	105421303	In-frame
ENST00000264122	105438890	105439094	In-frame
ENST00000264122	105495239	105495386	In-frame

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

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
ENST00000264122	6797	982	105495239	105495386	742	888	140	188
ENST00000264122	6797	982	105438890	105439094	1526	1729	401	469
ENST00000264122	6797	982	105420937	105421303	1916	2281	531	653
ENST00000264122	6797	982	105404163	105404310	2377	2523	685	733
ENST00000264122	6797	982	105400322	105400454	2619	2750	765	809
ENST00000264122	6797	982	105397274	105397415	2751	2891	809	856
ENST00000264122	6797	982	105389076	105389196	2892	3011	856	896

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
ENST00000264122	6797	982	105495239	105495386	742	888	140	188
ENST00000264122	6797	982	105438890	105439094	1526	1729	401	469
ENST00000264122	6797	982	105420937	105421303	1916	2281	531	653
ENST00000264122	6797	982	105404163	105404310	2377	2523	685	733
ENST00000264122	6797	982	105400322	105400454	2619	2750	765	809
ENST00000264122	6797	982	105397274	105397415	2751	2891	809	856
ENST00000264122	6797	982	105389076	105389196	2892	3011	856	896

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
Q13191	140	188	1	982	Chain	ID=PRO_0000055860;Note=E3 ubiquitin-protein ligase CBL-B
Q13191	140	188	35	343	Domain	Note=Cbl-PTB;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00839
Q13191	140	188	138	160	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZNI
Q13191	140	188	162	164	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZNI
Q13191	140	188	168	170	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZNI
Q13191	140	188	176	186	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZNI
Q13191	140	188	35	167	Region	Note=4H
Q13191	140	188	168	240	Region	Note=EF-hand-like
Q13191	401	469	417	420	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZNI
Q13191	401	469	422	424	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZNI
Q13191	401	469	1	982	Chain	ID=PRO_0000055860;Note=E3 ubiquitin-protein ligase CBL-B
Q13191	401	469	394	402	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZNI
Q13191	401	469	409	411	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZNI
Q13191	401	469	373	412	Zinc finger	Note=RING-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00175
Q13191	531	653	1	982	Chain	ID=PRO_0000055860;Note=E3 ubiquitin-protein ligase CBL-B
Q13191	531	653	477	925	Compositional bias	Note=Pro-rich
Q13191	531	653	634	634	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8K4S7
Q13191	531	653	584	584	Natural variant	ID=VAR_025303;Note=R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs17853100,PMID:15489334
Q13191	531	653	543	568	Region	Note=Interaction with VAV1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9399639;Dbxref=PMID:9399639
Q13191	685	733	1	982	Chain	ID=PRO_0000055860;Note=E3 ubiquitin-protein ligase CBL-B
Q13191	685	733	477	925	Compositional bias	Note=Pro-rich
Q13191	685	733	709	709	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10022120;Dbxref=PMID:10022120
Q13191	685	733	709	709	Mutagenesis	Note=Inhibits interaction with CRKL. Abolishes interaction with CRKL%3B when associated with F-665. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10022120;Dbxref=PMID:10022120
Q13191	765	809	767	770	Alternative sequence	ID=VSP_005730;Note=In isoform Truncated 2. DVFD->TYRI;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7784085;Dbxref=PMID:7784085
Q13191	765	809	771	982	Alternative sequence	ID=VSP_005731;Note=In isoform Truncated 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7784085;Dbxref=PMID:7784085
Q13191	765	809	1	982	Chain	ID=PRO_0000055860;Note=E3 ubiquitin-protein ligase CBL-B
Q13191	765	809	477	925	Compositional bias	Note=Pro-rich
Q13191	809	856	771	982	Alternative sequence	ID=VSP_005731;Note=In isoform Truncated 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7784085;Dbxref=PMID:7784085
Q13191	809	856	811	982	Alternative sequence	ID=VSP_005729;Note=In isoform Truncated 1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7784085;Dbxref=PMID:7784085
Q13191	809	856	1	982	Chain	ID=PRO_0000055860;Note=E3 ubiquitin-protein ligase CBL-B
Q13191	809	856	477	925	Compositional bias	Note=Pro-rich
Q13191	856	896	771	982	Alternative sequence	ID=VSP_005731;Note=In isoform Truncated 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7784085;Dbxref=PMID:7784085
Q13191	856	896	811	982	Alternative sequence	ID=VSP_005729;Note=In isoform Truncated 1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7784085;Dbxref=PMID:7784085
Q13191	856	896	1	982	Chain	ID=PRO_0000055860;Note=E3 ubiquitin-protein ligase CBL-B
Q13191	856	896	477	925	Compositional bias	Note=Pro-rich
Q13191	856	896	889	889	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q3TTA7
Q13191	856	896	883	883	Natural variant	ID=VAR_039241;Note=N->D;Dbxref=dbSNP:rs35835913
Q13191	856	896	891	927	Region	Note=Interaction with SH3KBP1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12177062;Dbxref=PMID:12177062

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
Q13191	140	188	1	982	Chain	ID=PRO_0000055860;Note=E3 ubiquitin-protein ligase CBL-B
Q13191	140	188	35	343	Domain	Note=Cbl-PTB;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00839
Q13191	140	188	138	160	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZNI
Q13191	140	188	162	164	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZNI
Q13191	140	188	168	170	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZNI
Q13191	140	188	176	186	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZNI
Q13191	140	188	35	167	Region	Note=4H
Q13191	140	188	168	240	Region	Note=EF-hand-like
Q13191	401	469	417	420	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZNI
Q13191	401	469	422	424	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZNI
Q13191	401	469	1	982	Chain	ID=PRO_0000055860;Note=E3 ubiquitin-protein ligase CBL-B
Q13191	401	469	394	402	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZNI
Q13191	401	469	409	411	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZNI
Q13191	401	469	373	412	Zinc finger	Note=RING-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00175
Q13191	531	653	1	982	Chain	ID=PRO_0000055860;Note=E3 ubiquitin-protein ligase CBL-B
Q13191	531	653	477	925	Compositional bias	Note=Pro-rich
Q13191	531	653	634	634	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8K4S7
Q13191	531	653	584	584	Natural variant	ID=VAR_025303;Note=R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs17853100,PMID:15489334
Q13191	531	653	543	568	Region	Note=Interaction with VAV1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9399639;Dbxref=PMID:9399639
Q13191	685	733	1	982	Chain	ID=PRO_0000055860;Note=E3 ubiquitin-protein ligase CBL-B
Q13191	685	733	477	925	Compositional bias	Note=Pro-rich
Q13191	685	733	709	709	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10022120;Dbxref=PMID:10022120
Q13191	685	733	709	709	Mutagenesis	Note=Inhibits interaction with CRKL. Abolishes interaction with CRKL%3B when associated with F-665. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10022120;Dbxref=PMID:10022120
Q13191	765	809	767	770	Alternative sequence	ID=VSP_005730;Note=In isoform Truncated 2. DVFD->TYRI;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7784085;Dbxref=PMID:7784085
Q13191	765	809	771	982	Alternative sequence	ID=VSP_005731;Note=In isoform Truncated 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7784085;Dbxref=PMID:7784085
Q13191	765	809	1	982	Chain	ID=PRO_0000055860;Note=E3 ubiquitin-protein ligase CBL-B
Q13191	765	809	477	925	Compositional bias	Note=Pro-rich
Q13191	809	856	771	982	Alternative sequence	ID=VSP_005731;Note=In isoform Truncated 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7784085;Dbxref=PMID:7784085
Q13191	809	856	811	982	Alternative sequence	ID=VSP_005729;Note=In isoform Truncated 1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7784085;Dbxref=PMID:7784085
Q13191	809	856	1	982	Chain	ID=PRO_0000055860;Note=E3 ubiquitin-protein ligase CBL-B
Q13191	809	856	477	925	Compositional bias	Note=Pro-rich
Q13191	856	896	771	982	Alternative sequence	ID=VSP_005731;Note=In isoform Truncated 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7784085;Dbxref=PMID:7784085
Q13191	856	896	811	982	Alternative sequence	ID=VSP_005729;Note=In isoform Truncated 1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7784085;Dbxref=PMID:7784085
Q13191	856	896	1	982	Chain	ID=PRO_0000055860;Note=E3 ubiquitin-protein ligase CBL-B
Q13191	856	896	477	925	Compositional bias	Note=Pro-rich
Q13191	856	896	889	889	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q3TTA7
Q13191	856	896	883	883	Natural variant	ID=VAR_039241;Note=N->D;Dbxref=dbSNP:rs35835913
Q13191	856	896	891	927	Region	Note=Interaction with SH3KBP1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12177062;Dbxref=PMID:12177062

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SNVs in the skipped exons for CBLB

- 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.

CBLB_ESCA_exon_skip_386258_psi_boxplot.png
boxplot

CBLB_SKCM_exon_skip_386258_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
LIHC	TCGA-DD-A1EG-01	exon_skip_386257	105404164	105404310	105404175	105404175	Frame_Shift_Del	T	-	p.K730fs
LIHC	TCGA-DD-A3A0-01	exon_skip_386258	105420938	105421303	105421017	105421017	Frame_Shift_Del	C	-	p.G627fs
LIHC	TCGA-DD-A39Y-01	exon_skip_386258	105420938	105421303	105421097	105421097	Frame_Shift_Del	C	-	p.G600fs
LIHC	TCGA-DD-A1EG-01	exon_skip_386261	105438891	105439094	105439055	105439055	Frame_Shift_Del	T	-	p.I415fs
LIHC	TCGA-DD-A39Y-01	exon_skip_386267	105470306	105470462	105470321	105470321	Frame_Shift_Del	A	-	p.F236fs
LIHC	TCGA-DD-A3A0-01	exon_skip_386267	105470306	105470462	105470344	105470344	Frame_Shift_Del	A	-	p.S229fs
LIHC	TCGA-DD-A39Y-01	exon_skip_386269	105495240	105495386	105495248	105495248	Frame_Shift_Del	A	-	p.F186fs
LIHC	TCGA-BC-A3KG-01	exon_skip_386269	105495240	105495386	105495371	105495371	Frame_Shift_Del	T	-	p.K145fs
LIHC	TCGA-DD-A3A0-01	exon_skip_386272	105572258	105572508	105572352	105572352	Frame_Shift_Del	T	-	p.I109fs
BLCA	TCGA-GV-A3JZ-01	exon_skip_386258	105420938	105421303	105421029	105421029	Nonsense_Mutation	G	C	p.S623*
ESCA	TCGA-JY-A93D-01	exon_skip_386258	105420938	105421303	105421029	105421029	Nonsense_Mutation	G	T	p.S623*
ESCA	TCGA-JY-A93D-01	exon_skip_386258	105420938	105421303	105421029	105421029	Nonsense_Mutation	G	T	p.S623X
SKCM	TCGA-GF-A6C9-06	exon_skip_386258	105420938	105421303	105421075	105421075	Nonsense_Mutation	G	A	p.R608*
SKCM	TCGA-GF-A6C9-06	exon_skip_386258	105420938	105421303	105421075	105421075	Nonsense_Mutation	G	A	p.R608X
DLBC	TCGA-FA-A4BB-01	exon_skip_386269	105495240	105495386	105495385	105495385	Nonsense_Mutation	G	A	p.R141X
LUSC	TCGA-66-2763-01	exon_skip_386269	105495240	105495386	105495385	105495385	Nonsense_Mutation	G	A	p.R140_splice
HNSC	TCGA-CV-A6JT-01	exon_skip_386272	105572258	105572508	105572430	105572430	Nonsense_Mutation	G	A	p.Q83*
UCEC	TCGA-B5-A0JY-01	exon_skip_386267	105470306	105470462	105470463	105470463	Splice_Site	C	A	e4-1

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-JY-A93D-01
	Cancer type: ESCA
	ESID: exon_skip_386258
	Skipped exon start: 105420938
	Skipped exon end: 105421303
	Mutation start: 105421029
	Mutation end: 105421029
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.S623X
	Sample: TCGA-JY-A93D-01
	Cancer type: ESCA
	ESID: exon_skip_386258
	Skipped exon start: 105420938
	Skipped exon end: 105421303
	Mutation start: 105421029
	Mutation end: 105421029
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.S623*
exon_skip_386258_ESCA_TCGA-JY-A93D-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
CCK81_LARGE_INTESTINE	105389077	105389196	105389130	105389130	Frame_Shift_Del	T	-	p.N879fs
SNU175_LARGE_INTESTINE	105389077	105389196	105389163	105389163	Missense_Mutation	G	T	p.P868H
HOP92_LUNG	105397275	105397415	105397374	105397374	Missense_Mutation	G	A	p.P824S
NCIH1184_LUNG	105397275	105397415	105397402	105397402	Missense_Mutation	A	T	p.F814L
G361_SKIN	105397275	105397415	105397403	105397403	Missense_Mutation	A	G	p.F814S
NCIH2066_LUNG	105400323	105400454	105400380	105400380	Missense_Mutation	G	A	p.H791Y
WM1552C_SKIN	105400323	105400454	105400437	105400437	Missense_Mutation	C	A	p.A772S
LXF289_LUNG	105400323	105400454	105400439	105400439	Missense_Mutation	G	A	p.S771L
HEC251_ENDOMETRIUM	105404164	105404310	105404179	105404179	Missense_Mutation	A	C	p.V729G
NCIH2444_LUNG	105420938	105421303	105420966	105420966	Missense_Mutation	C	T	p.R644H
OVK18_OVARY	105420938	105421303	105420985	105420985	Missense_Mutation	G	A	p.L638F
SW156_KIDNEY	105420938	105421303	105420998	105420999	Missense_Mutation	GC	AG	p.G633A
OVK18_OVARY	105420938	105421303	105421167	105421167	Missense_Mutation	T	C	p.H577R
UWB1289_OVARY	105420938	105421303	105421294	105421294	Missense_Mutation	A	C	p.C535G
201T_LUNG	105438891	105439094	105438900	105438900	Missense_Mutation	G	C	p.N466K
HEC251_ENDOMETRIUM	105438891	105439094	105438935	105438935	Missense_Mutation	G	A	p.R455C
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	105438891	105439094	105438940	105438940	Missense_Mutation	T	C	p.D453G
BT20_BREAST	105438891	105439094	105438956	105438956	Missense_Mutation	C	T	p.D448N
CCK81_LARGE_INTESTINE	105438891	105439094	105438956	105438956	Missense_Mutation	C	T	p.D448N
BICR10_UPPER_AERODIGESTIVE_TRACT	105438891	105439094	105439019	105439019	Missense_Mutation	C	A	p.D427Y
SNU1040_LARGE_INTESTINE	105438891	105439094	105439024	105439024	Missense_Mutation	G	A	p.P425L
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	105438891	105439094	105439037	105439037	Missense_Mutation	T	C	p.I421V
DSH1_URINARY_TRACT	105438891	105439094	105439063	105439063	Missense_Mutation	C	T	p.R412H
NCIH69_LUNG	105438891	105439094	105439085	105439085	Missense_Mutation	C	A	p.G405C
NCIH1568_LUNG	105470306	105470462	105470326	105470326	Missense_Mutation	T	A	p.I235F
MM127_SKIN	105470306	105470462	105470343	105470343	Missense_Mutation	G	A	p.S229L
SNU1040_LARGE_INTESTINE	105470306	105470462	105470430	105470430	Missense_Mutation	C	T	p.C200Y
LNCAPCLONEFGC_PROSTATE	105495240	105495386	105495249	105495249	Missense_Mutation	A	G	p.F186S
JHUEM7_ENDOMETRIUM	105495240	105495386	105495297	105495297	Missense_Mutation	T	G	p.N170T
SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	105495240	105495386	105495342	105495342	Missense_Mutation	G	A	p.A155V
HCC2998_LARGE_INTESTINE	105495240	105495386	105495384	105495384	Missense_Mutation	C	T	p.R141Q
MERO83_LUNG	105572258	105572508	105572313	105572313	Missense_Mutation	T	C	p.I122V
AN3CA_ENDOMETRIUM	105572258	105572508	105572361	105572361	Missense_Mutation	A	G	p.Y106H
RCCER_KIDNEY	105572258	105572508	105572451	105572451	Missense_Mutation	C	A	p.D76Y
RERFLCFM_LUNG	105420938	105421303	105421045	105421045	Nonsense_Mutation	C	A	p.G618*
SNU1040_LARGE_INTESTINE	105438891	105439094	105438896	105438896	Nonsense_Mutation	G	A	p.R468*
LN428_CENTRAL_NERVOUS_SYSTEM	105572258	105572508	105572507	105572507	Splice_Site	A	T	p.V57E

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

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 CBLB

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

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RelatedDrugs for CBLB

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 CBLB

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
CBLB	C0014072	Experimental Autoimmune Encephalomyelitis	1	CTD_human
CBLB	C0026769	Multiple Sclerosis	1	CTD_human

	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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