ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MYBL2

Gene summary

Gene information	Gene symbol	MYBL2
	Gene ID	4605
	Gene name	MYB proto-oncogene like 2
	Synonyms	B-MYB\|BMYB
	Cytomap	20q13.12
	Type of gene	protein-coding
	Description	myb-related protein Bmyb-like protein 2v-myb avian myeloblastosis viral oncogene homolog-like 2v-myb myeloblastosis viral oncogene homolog-like 2
	Modification date	20180523
	UniProtAcc	P10244
	Context	PubMed: MYBL2 [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
MYBL2	GO:0045944	positive regulation of transcription by RNA polymerase II	10770937

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Exon skipping events across known transcript of Ensembl for MYBL2 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 MYBL2

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 MYBL2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_352074	20	42295796:42295943:42302445:42302539:42310423:42310444	42302445:42302539	ENSG00000101057.11	ENST00000217026.4
exon_skip_352077	20	42302445:42302539:42310423:42310495:42311433:42311526	42310423:42310495	ENSG00000101057.11	ENST00000217026.4
exon_skip_352078	20	42302445:42302539:42311433:42311526:42315491:42315665	42311433:42311526	ENSG00000101057.11	ENST00000396863.4
exon_skip_352083	20	42315491:42315712:42320796:42320959:42328396:42328605	42320796:42320959	ENSG00000101057.11	ENST00000396863.4,ENST00000217026.4
exon_skip_352086	20	42328396:42328684:42331129:42331543:42333858:42333998	42331129:42331543	ENSG00000101057.11	ENST00000396863.4,ENST00000217026.4
exon_skip_352092	20	42333858:42333998:42338602:42338702:42340127:42340241	42338602:42338702	ENSG00000101057.11	ENST00000396863.4,ENST00000217026.4
exon_skip_352105	20	42341641:42341746:42343773:42343923:42344598:42344728	42343773:42343923	ENSG00000101057.11	ENST00000396863.4,ENST00000217026.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MYBL2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_352074	20	42295796:42295943:42302445:42302539:42310423:42310444	42302445:42302539	ENSG00000101057.11	ENST00000217026.4
exon_skip_352077	20	42302445:42302539:42310423:42310495:42311433:42311526	42310423:42310495	ENSG00000101057.11	ENST00000217026.4
exon_skip_352078	20	42302445:42302539:42311433:42311526:42315491:42315665	42311433:42311526	ENSG00000101057.11	ENST00000396863.4
exon_skip_352083	20	42315491:42315712:42320796:42320959:42328396:42328605	42320796:42320959	ENSG00000101057.11	ENST00000396863.4,ENST00000217026.4
exon_skip_352086	20	42328396:42328684:42331129:42331543:42333858:42333998	42331129:42331543	ENSG00000101057.11	ENST00000396863.4,ENST00000217026.4
exon_skip_352092	20	42333858:42333998:42338602:42338702:42340127:42340241	42338602:42338702	ENSG00000101057.11	ENST00000396863.4,ENST00000217026.4
exon_skip_352105	20	42341641:42341746:42343773:42343923:42344598:42344728	42343773:42343923	ENSG00000101057.11	ENST00000396863.4,ENST00000217026.4

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 MYBL2

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
ENST00000217026	42302445	42302539	Frame-shift
ENST00000217026	42320796	42320959	Frame-shift
ENST00000217026	42338602	42338702	Frame-shift
ENST00000217026	42310423	42310495	In-frame
ENST00000217026	42331129	42331543	In-frame
ENST00000217026	42343773	42343923	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
ENST00000217026	42302445	42302539	Frame-shift
ENST00000217026	42320796	42320959	Frame-shift
ENST00000217026	42338602	42338702	Frame-shift
ENST00000217026	42310423	42310495	In-frame
ENST00000217026	42331129	42331543	In-frame
ENST00000217026	42343773	42343923	In-frame

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Infer the effects of exon skipping event on protein functional features for MYBL2

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
ENST00000217026	2656	700	42310423	42310495	242	313	38	62
ENST00000217026	2656	700	42331129	42331543	1079	1492	317	455
ENST00000217026	2656	700	42343773	42343923	1952	2101	608	658

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
ENST00000217026	2656	700	42310423	42310495	242	313	38	62
ENST00000217026	2656	700	42331129	42331543	1079	1492	317	455
ENST00000217026	2656	700	42343773	42343923	1952	2101	608	658

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
P10244	38	62	39	62	Alternative sequence	ID=VSP_053987;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P10244	38	62	1	700	Chain	ID=PRO_0000197058;Note=Myb-related protein B
P10244	38	62	54	77	DNA binding	Note=H-T-H motif;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00625
P10244	38	62	26	77	Domain	Note=HTH myb-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00625
P10244	317	455	1	700	Chain	ID=PRO_0000197058;Note=Myb-related protein B
P10244	317	455	411	411	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P10244	317	455	447	447	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P10244	317	455	393	393	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P10244	317	455	440	440	Modified residue	Note=Phosphothreonine%3B by CDK2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10095772;Dbxref=PMID:10095772
P10244	317	455	444	444	Modified residue	Note=Phosphothreonine%3B by CDK2;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10095772,ECO:0000269\|PubMed:9840932;Dbxref=PMID:10095772,PMID:9840932
P10244	317	455	411	417	Motif	Note=Nuclear localization signal;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8062924;Dbxref=PMID:8062924
P10244	317	455	341	341	Natural variant	ID=VAR_050190;Note=N->S;Dbxref=dbSNP:rs6017146
P10244	317	455	427	427	Natural variant	ID=VAR_020422;Note=S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14702039;Dbxref=dbSNP:rs2070235,PMID:14702039
P10244	608	658	1	700	Chain	ID=PRO_0000197058;Note=Myb-related protein B
P10244	608	658	625	625	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P10244	608	658	639	639	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:25772364,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:25772364,PMI
P10244	608	658	648	648	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P10244	608	658	624	624	Natural variant	ID=VAR_050192;Note=I->M;Dbxref=dbSNP:rs11556379

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
P10244	38	62	39	62	Alternative sequence	ID=VSP_053987;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P10244	38	62	1	700	Chain	ID=PRO_0000197058;Note=Myb-related protein B
P10244	38	62	54	77	DNA binding	Note=H-T-H motif;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00625
P10244	38	62	26	77	Domain	Note=HTH myb-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00625
P10244	317	455	1	700	Chain	ID=PRO_0000197058;Note=Myb-related protein B
P10244	317	455	411	411	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P10244	317	455	447	447	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P10244	317	455	393	393	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P10244	317	455	440	440	Modified residue	Note=Phosphothreonine%3B by CDK2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10095772;Dbxref=PMID:10095772
P10244	317	455	444	444	Modified residue	Note=Phosphothreonine%3B by CDK2;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10095772,ECO:0000269\|PubMed:9840932;Dbxref=PMID:10095772,PMID:9840932
P10244	317	455	411	417	Motif	Note=Nuclear localization signal;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8062924;Dbxref=PMID:8062924
P10244	317	455	341	341	Natural variant	ID=VAR_050190;Note=N->S;Dbxref=dbSNP:rs6017146
P10244	317	455	427	427	Natural variant	ID=VAR_020422;Note=S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14702039;Dbxref=dbSNP:rs2070235,PMID:14702039
P10244	608	658	1	700	Chain	ID=PRO_0000197058;Note=Myb-related protein B
P10244	608	658	625	625	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P10244	608	658	639	639	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:25772364,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:25772364,PMI
P10244	608	658	648	648	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P10244	608	658	624	624	Natural variant	ID=VAR_050192;Note=I->M;Dbxref=dbSNP:rs11556379

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SNVs in the skipped exons for MYBL2

- 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_352078	42311434	42311526	42311496	42311496	Frame_Shift_Del	G	-	p.K83fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_352083	42320797	42320959	42320837	42320837	Frame_Shift_Del	A	-	p.K181fs
LIHC	TCGA-DD-A39Y-01	exon_skip_352086	42331130	42331543	42331165	42331165	Frame_Shift_Del	C	-	p.D329fs
LIHC	TCGA-BC-A3KG-01	exon_skip_352086	42331130	42331543	42331178	42331178	Frame_Shift_Del	C	-	p.P334fs
LIHC	TCGA-DD-A1EG-01	exon_skip_352092	42338603	42338702	42338656	42338656	Frame_Shift_Del	C	-	p.T520fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_352105	42343774	42343923	42343919	42343919	Frame_Shift_Del	C	-	p.A657fs
LIHC	TCGA-BC-A112-01	exon_skip_352083	42320797	42320959	42320836	42320837	Frame_Shift_Ins	-	A	p.IK180fs
KIRC	TCGA-B8-4622-01	exon_skip_352105	42343774	42343923	42343846	42343846	Nonsense_Mutation	C	T	p.Q633*
KIRC	TCGA-B8-4622-01	exon_skip_352105	42343774	42343923	42343846	42343846	Nonsense_Mutation	C	T	p.Q633X

- 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
SNU1214_UPPER_AERODIGESTIVE_TRACT	42310424	42310495	42310427	42310427	Missense_Mutation	G	A	p.E40K
MRKNU1_BREAST	42320797	42320959	42320836	42320836	Missense_Mutation	C	G	p.I180M
TGBC11TKB_STOMACH	42320797	42320959	42320850	42320850	Missense_Mutation	A	G	p.D185G
DMS79_LUNG	42320797	42320959	42320872	42320872	Missense_Mutation	G	C	p.E192D
JHUEM7_ENDOMETRIUM	42331130	42331543	42331286	42331286	Missense_Mutation	G	A	p.E370K
SW684_SOFT_TISSUE	42331130	42331543	42331398	42331398	Missense_Mutation	C	T	p.P407L
UMUC6_URINARY_TRACT	42331130	42331543	42331416	42331416	Missense_Mutation	A	G	p.Q413R
NCIH727_LUNG	42331130	42331543	42331434	42331434	Missense_Mutation	C	G	p.A419G
SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42331130	42331543	42331496	42331496	Missense_Mutation	A	G	p.T440A
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42338603	42338702	42338681	42338681	Missense_Mutation	G	C	p.K528N
LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM	42343774	42343923	42343783	42343783	Missense_Mutation	G	A	p.A612T
LNZ308_CENTRAL_NERVOUS_SYSTEM	42343774	42343923	42343783	42343783	Missense_Mutation	G	A	p.A612T
JHUEM1_ENDOMETRIUM	42343774	42343923	42343868	42343868	Missense_Mutation	C	A	p.P640H
A431_SKIN	42343774	42343923	42343870	42343870	Missense_Mutation	G	A	p.E641K
SNU81_LARGE_INTESTINE	42343774	42343923	42343870	42343870	Missense_Mutation	G	A	p.E641K
EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42343774	42343923	42343918	42343918	Missense_Mutation	G	T	p.A657S
A427_LUNG	42302446	42302539	42302534	42302534	Nonsense_Mutation	G	T	p.E37*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYBL2

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_352083	20	42315491:42315712:42320796:42320959:42328396:42328605	42320796:42320959	ENST00000396863.4,ENST00000217026.4	BLCA	rs2229036	chr20:42320881	C/T	1.57e-07
exon_skip_352083	20	42315491:42315712:42320796:42320959:42328396:42328605	42320796:42320959	ENST00000396863.4,ENST00000217026.4	READ	rs2229036	chr20:42320881	C/T	3.23e-04
exon_skip_352086	20	42328396:42328684:42331129:42331543:42333858:42333998	42331129:42331543	ENST00000396863.4,ENST00000217026.4	BLCA	rs2070235	chr20:42331457	A/G	1.84e-06
exon_skip_352086	20	42328396:42328684:42331129:42331543:42333858:42333998	42331129:42331543	ENST00000396863.4,ENST00000217026.4	HNSC	rs2070235	chr20:42331457	A/G	1.18e-05
exon_skip_352086	20	42328396:42328684:42331129:42331543:42333858:42333998	42331129:42331543	ENST00000396863.4,ENST00000217026.4	LUSC	rs2070235	chr20:42331457	A/G	9.02e-07

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYBL2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYBL2

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RelatedDrugs for MYBL2

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 MYBL2

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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