ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for KMT2B

Gene summary

Gene information	Gene symbol	KMT2B
	Gene ID	9757
	Gene name	lysine methyltransferase 2B
	Synonyms	CXXC10\|DYT28\|HRX2\|MLL1B\|MLL2\|MLL4\|TRX2\|WBP-7\|WBP7
	Cytomap	19q13.12
	Type of gene	protein-coding
	Description	histone-lysine N-methyltransferase 2BWW domain binding protein 7histone-lysine N-methyltransferase MLL4lysine (K)-specific methyltransferase 2Bmixed lineage leukemia gene homolog 2myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosoph
	Modification date	20180523
	UniProtAcc	Q9UMN6
	Context	PubMed: KMT2B [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 KMT2B 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 KMT2B

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 KMT2B

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_305915	19	36208920:36209283:36210370:36210443:36210685:36211842	36210370:36210443	ENSG00000272333.1	ENST00000222270.7,ENST00000341701.1
exon_skip_305920	19	36210685:36212706:36213260:36213374:36213469:36213620	36213260:36213374	ENSG00000272333.1	ENST00000222270.7,ENST00000420124.1
exon_skip_305923	19	36214348:36214404:36214632:36214908:36215537:36215632	36214632:36214908	ENSG00000272333.1	ENST00000222270.7
exon_skip_305929	19	36216623:36216719:36217136:36217254:36218056:36218170	36217136:36217254	ENSG00000272333.1	ENST00000222270.7,ENST00000420124.1
exon_skip_305933	19	36218998:36219072:36219674:36219790:36219885:36219977	36219674:36219790	ENSG00000272333.1	ENST00000222270.7,ENST00000420124.1
exon_skip_305934	19	36220059:36220197:36220867:36221026:36221242:36221363	36220867:36221026	ENSG00000272333.1	ENST00000222270.7,ENST00000420124.1
exon_skip_305936	19	36221242:36221363:36221438:36221517:36221607:36221768	36221438:36221517	ENSG00000272333.1	ENST00000222270.7,ENST00000420124.1
exon_skip_305946	19	36223599:36224409:36224497:36224587:36224663:36224773	36224497:36224587	ENSG00000272333.1	ENST00000222270.7,ENST00000420124.1
exon_skip_305951	19	36224663:36224773:36227590:36227728:36227812:36227887	36227590:36227728	ENSG00000272333.1	ENST00000222270.7,ENST00000420124.1
exon_skip_305954	19	36227812:36227887:36227986:36228164:36228536:36228644	36227986:36228164	ENSG00000272333.1	ENST00000222270.7,ENST00000420124.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for KMT2B

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_305915	19	36208920:36209283:36210370:36210443:36210685:36211842	36210370:36210443	ENSG00000272333.1	ENST00000222270.7,ENST00000341701.1
exon_skip_305920	19	36210685:36212706:36213260:36213374:36213469:36213620	36213260:36213374	ENSG00000272333.1	ENST00000420124.1,ENST00000222270.7
exon_skip_305923	19	36214348:36214404:36214632:36214908:36215537:36215632	36214632:36214908	ENSG00000272333.1	ENST00000222270.7
exon_skip_305929	19	36216623:36216719:36217136:36217254:36218056:36218170	36217136:36217254	ENSG00000272333.1	ENST00000420124.1,ENST00000222270.7
exon_skip_305933	19	36218998:36219072:36219674:36219790:36219885:36219977	36219674:36219790	ENSG00000272333.1	ENST00000420124.1,ENST00000222270.7
exon_skip_305934	19	36220059:36220197:36220867:36221026:36221242:36221363	36220867:36221026	ENSG00000272333.1	ENST00000420124.1,ENST00000222270.7
exon_skip_305936	19	36221242:36221363:36221438:36221517:36221607:36221768	36221438:36221517	ENSG00000272333.1	ENST00000420124.1,ENST00000222270.7
exon_skip_305946	19	36223599:36224409:36224497:36224587:36224663:36224773	36224497:36224587	ENSG00000272333.1	ENST00000420124.1,ENST00000222270.7
exon_skip_305951	19	36224663:36224773:36227590:36227728:36227812:36227887	36227590:36227728	ENSG00000272333.1	ENST00000420124.1,ENST00000222270.7
exon_skip_305954	19	36227812:36227887:36227986:36228164:36228536:36228644	36227986:36228164	ENSG00000272333.1	ENST00000420124.1,ENST00000222270.7

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 KMT2B

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
ENST00000420124	36217136	36217254	Frame-shift
ENST00000420124	36219674	36219790	Frame-shift
ENST00000420124	36221438	36221517	Frame-shift
ENST00000420124	36227986	36228164	Frame-shift
ENST00000420124	36213260	36213374	In-frame
ENST00000420124	36220867	36221026	In-frame
ENST00000420124	36224497	36224587	In-frame
ENST00000420124	36227590	36227728	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
ENST00000420124	36217136	36217254	Frame-shift
ENST00000420124	36219674	36219790	Frame-shift
ENST00000420124	36221438	36221517	Frame-shift
ENST00000420124	36227986	36228164	Frame-shift
ENST00000420124	36213260	36213374	In-frame
ENST00000420124	36220867	36221026	In-frame
ENST00000420124	36224497	36224587	In-frame
ENST00000420124	36227590	36227728	In-frame

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Infer the effects of exon skipping event on protein functional features for KMT2B

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
ENST00000420124	8486	2715	36213260	36213374	2458	2571	819	857
ENST00000420124	8486	2715	36220867	36221026	4918	5076	1639	1692
ENST00000420124	8486	2715	36224497	36224587	6960	7049	2320	2349
ENST00000420124	8486	2715	36227590	36227728	7160	7297	2386	2432

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
ENST00000420124	8486	2715	36213260	36213374	2458	2571	819	857
ENST00000420124	8486	2715	36220867	36221026	4918	5076	1639	1692
ENST00000420124	8486	2715	36224497	36224587	6960	7049	2320	2349
ENST00000420124	8486	2715	36227590	36227728	7160	7297	2386	2432

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
Q9UMN6	819	857	583	2715	Alternative sequence	ID=VSP_006669;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMN6	819	857	2	2715	Chain	ID=PRO_0000124881;Note=Histone-lysine N-methyltransferase 2B
Q9UMN6	819	857	821	821	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163
Q9UMN6	819	857	844	844	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q9UMN6	819	857	545	2715	Natural variant	ID=VAR_080233;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27839873;Dbxref=PMID:27839873
Q9UMN6	819	857	564	2715	Natural variant	ID=VAR_080234;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	819	857	810	2715	Natural variant	ID=VAR_080235;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27839873;Dbxref=PMID:27839873
Q9UMN6	819	857	834	834	Sequence conflict	Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMN6	1639	1692	583	2715	Alternative sequence	ID=VSP_006669;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMN6	1639	1692	2	2715	Chain	ID=PRO_0000124881;Note=Histone-lysine N-methyltransferase 2B
Q9UMN6	1639	1692	545	2715	Natural variant	ID=VAR_080233;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27839873;Dbxref=PMID:27839873
Q9UMN6	1639	1692	564	2715	Natural variant	ID=VAR_080234;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	1639	1692	810	2715	Natural variant	ID=VAR_080235;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27839873;Dbxref=PMID:27839873
Q9UMN6	1639	1692	1515	2715	Natural variant	ID=VAR_080236;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	1639	1692	1652	1652	Natural variant	ID=VAR_080237;Note=In DYT28%3B unknown pathological significance. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	1639	1692	1662	1662	Natural variant	ID=VAR_080238;Note=In DYT28%3B unknown pathological significance. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	1639	1692	1639	1686	Zinc finger	Note=PHD-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01146
Q9UMN6	2320	2349	583	2715	Alternative sequence	ID=VSP_006669;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMN6	2320	2349	2	2715	Chain	ID=PRO_0000124881;Note=Histone-lysine N-methyltransferase 2B
Q9UMN6	2320	2349	2348	2348	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q9UMN6	2320	2349	545	2715	Natural variant	ID=VAR_080233;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27839873;Dbxref=PMID:27839873
Q9UMN6	2320	2349	564	2715	Natural variant	ID=VAR_080234;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	2320	2349	810	2715	Natural variant	ID=VAR_080235;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27839873;Dbxref=PMID:27839873
Q9UMN6	2320	2349	1515	2715	Natural variant	ID=VAR_080236;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	2386	2432	583	2715	Alternative sequence	ID=VSP_006669;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMN6	2386	2432	2	2715	Chain	ID=PRO_0000124881;Note=Histone-lysine N-methyltransferase 2B
Q9UMN6	2386	2432	2411	2492	Domain	Note=FYR C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00876
Q9UMN6	2386	2432	545	2715	Natural variant	ID=VAR_080233;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27839873;Dbxref=PMID:27839873
Q9UMN6	2386	2432	564	2715	Natural variant	ID=VAR_080234;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	2386	2432	810	2715	Natural variant	ID=VAR_080235;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27839873;Dbxref=PMID:27839873
Q9UMN6	2386	2432	1515	2715	Natural variant	ID=VAR_080236;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	2386	2432	2408	2408	Natural variant	ID=VAR_052655;Note=K->N;Dbxref=dbSNP:rs36062432

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
Q9UMN6	819	857	583	2715	Alternative sequence	ID=VSP_006669;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMN6	819	857	2	2715	Chain	ID=PRO_0000124881;Note=Histone-lysine N-methyltransferase 2B
Q9UMN6	819	857	821	821	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163
Q9UMN6	819	857	844	844	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q9UMN6	819	857	545	2715	Natural variant	ID=VAR_080233;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27839873;Dbxref=PMID:27839873
Q9UMN6	819	857	564	2715	Natural variant	ID=VAR_080234;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	819	857	810	2715	Natural variant	ID=VAR_080235;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27839873;Dbxref=PMID:27839873
Q9UMN6	819	857	834	834	Sequence conflict	Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMN6	1639	1692	583	2715	Alternative sequence	ID=VSP_006669;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMN6	1639	1692	2	2715	Chain	ID=PRO_0000124881;Note=Histone-lysine N-methyltransferase 2B
Q9UMN6	1639	1692	545	2715	Natural variant	ID=VAR_080233;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27839873;Dbxref=PMID:27839873
Q9UMN6	1639	1692	564	2715	Natural variant	ID=VAR_080234;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	1639	1692	810	2715	Natural variant	ID=VAR_080235;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27839873;Dbxref=PMID:27839873
Q9UMN6	1639	1692	1515	2715	Natural variant	ID=VAR_080236;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	1639	1692	1652	1652	Natural variant	ID=VAR_080237;Note=In DYT28%3B unknown pathological significance. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	1639	1692	1662	1662	Natural variant	ID=VAR_080238;Note=In DYT28%3B unknown pathological significance. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	1639	1692	1639	1686	Zinc finger	Note=PHD-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01146
Q9UMN6	2320	2349	583	2715	Alternative sequence	ID=VSP_006669;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMN6	2320	2349	2	2715	Chain	ID=PRO_0000124881;Note=Histone-lysine N-methyltransferase 2B
Q9UMN6	2320	2349	2348	2348	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q9UMN6	2320	2349	545	2715	Natural variant	ID=VAR_080233;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27839873;Dbxref=PMID:27839873
Q9UMN6	2320	2349	564	2715	Natural variant	ID=VAR_080234;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	2320	2349	810	2715	Natural variant	ID=VAR_080235;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27839873;Dbxref=PMID:27839873
Q9UMN6	2320	2349	1515	2715	Natural variant	ID=VAR_080236;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	2386	2432	583	2715	Alternative sequence	ID=VSP_006669;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMN6	2386	2432	2	2715	Chain	ID=PRO_0000124881;Note=Histone-lysine N-methyltransferase 2B
Q9UMN6	2386	2432	2411	2492	Domain	Note=FYR C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00876
Q9UMN6	2386	2432	545	2715	Natural variant	ID=VAR_080233;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27839873;Dbxref=PMID:27839873
Q9UMN6	2386	2432	564	2715	Natural variant	ID=VAR_080234;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	2386	2432	810	2715	Natural variant	ID=VAR_080235;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27839873;Dbxref=PMID:27839873
Q9UMN6	2386	2432	1515	2715	Natural variant	ID=VAR_080236;Note=In DYT28. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27992417;Dbxref=PMID:27992417
Q9UMN6	2386	2432	2408	2408	Natural variant	ID=VAR_052655;Note=K->N;Dbxref=dbSNP:rs36062432

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SNVs in the skipped exons for KMT2B

- 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
BLCA	TCGA-DK-A6AW-01	exon_skip_305915	36210371	36210443	36210440	36210440	Nonsense_Mutation	C	T	p.R145*
ESCA	TCGA-L5-A8NM-01	exon_skip_305951	36227591	36227728	36227710	36227710	Nonsense_Mutation	G	T	p.E2427*

- 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
HEC108_ENDOMETRIUM	36213261	36213374	36213358	36213359	Frame_Shift_Del	AG	-	p.K852fs
SKUT1_SOFT_TISSUE	36214633	36214908	36214714	36214714	Frame_Shift_Del	G	-	p.R1047fs
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	36214633	36214908	36214728	36214728	Frame_Shift_Del	G	-	p.G1053fs
BICR18_UPPER_AERODIGESTIVE_TRACT	36214633	36214908	36214750	36214750	Frame_Shift_Del	T	-	p.V1059fs
TOV21G_OVARY	36214633	36214908	36214866	36214866	Frame_Shift_Del	G	-	p.G1099fs
HEC151_ENDOMETRIUM	36214633	36214908	36214871	36214871	Frame_Shift_Del	C	-	p.G1099fs
HEC59_ENDOMETRIUM	36214633	36214908	36214871	36214871	Frame_Shift_Del	C	-	p.G1099fs
SNU407_LARGE_INTESTINE	36214633	36214908	36214871	36214871	Frame_Shift_Del	C	-	p.G1099fs
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	36214633	36214908	36214871	36214871	Frame_Shift_Del	C	-	p.G1099fs
NCIBL1770_MATCHED_NORMAL_TISSUE	36221439	36221517	36221491	36221491	Frame_Shift_Del	G	-	p.E1750fs
BICR18_UPPER_AERODIGESTIVE_TRACT	36214633	36214908	36214757	36214758	Frame_Shift_Ins	-	T	p.P1062fs
SNU1_STOMACH	36214633	36214908	36214870	36214871	Frame_Shift_Ins	-	C	p.GP1099fs
PCI30_UPPER_AERODIGESTIVE_TRACT	36224498	36224587	36224520	36224521	Frame_Shift_Ins	-	C	p.T2328fs
BICR18_UPPER_AERODIGESTIVE_TRACT	36214633	36214908	36214784	36214785	In_Frame_Ins	-	CTA	p.1071_1071L>LL
HCC2998_LARGE_INTESTINE	36210371	36210443	36210432	36210432	Missense_Mutation	G	A	p.R142Q
CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	36213261	36213374	36213271	36213271	Missense_Mutation	G	C	p.G823A
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	36213261	36213374	36213331	36213331	Missense_Mutation	G	A	p.R843Q
OPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	36213261	36213374	36213331	36213331	Missense_Mutation	G	A	p.R843Q
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	36214633	36214908	36214734	36214734	Missense_Mutation	C	T	p.P1054S
BICR18_UPPER_AERODIGESTIVE_TRACT	36214633	36214908	36214734	36214734	Missense_Mutation	C	T	p.P1054S
NCIH1435_LUNG	36214633	36214908	36214737	36214737	Missense_Mutation	C	T	p.R1055W
NCIH1573_LUNG	36214633	36214908	36214752	36214752	Missense_Mutation	G	T	p.A1060S
TEN_ENDOMETRIUM	36214633	36214908	36214765	36214765	Missense_Mutation	C	T	p.P1064L
LNCAPCLONEFGC_PROSTATE	36214633	36214908	36214812	36214812	Missense_Mutation	G	A	p.V1080I
PEO1_OVARY	36214633	36214908	36214903	36214903	Missense_Mutation	A	T	p.E1110V
SNU1040_LARGE_INTESTINE	36217137	36217254	36217156	36217156	Missense_Mutation	G	A	p.R1302H
SISO_CERVIX	36217137	36217254	36217195	36217195	Missense_Mutation	A	T	p.D1315V
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	36217137	36217254	36217195	36217195	Missense_Mutation	A	T	p.D1315V
SNUC4_LARGE_INTESTINE	36217137	36217254	36217234	36217234	Missense_Mutation	G	A	p.C1328Y
MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	36219675	36219790	36219698	36219698	Missense_Mutation	T	G	p.L1532W
TGBC11TKB_STOMACH	36220868	36221026	36220896	36220896	Missense_Mutation	C	T	p.A1649V
LS180_LARGE_INTESTINE	36220868	36221026	36220908	36220908	Missense_Mutation	G	A	p.C1653Y
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	36220868	36221026	36220955	36220955	Missense_Mutation	G	A	p.A1669T
GP2D_LARGE_INTESTINE	36220868	36221026	36220958	36220958	Missense_Mutation	A	G	p.S1670G
GP5D_LARGE_INTESTINE	36220868	36221026	36220958	36220958	Missense_Mutation	A	G	p.S1670G
CA922_UPPER_AERODIGESTIVE_TRACT	36221439	36221517	36221481	36221481	Missense_Mutation	C	T	p.S1747L
LIM1215_LARGE_INTESTINE	36224498	36224587	36224541	36224541	Missense_Mutation	C	A	p.L2335I
NCIH146_LUNG	36227591	36227728	36227647	36227647	Missense_Mutation	G	T	p.A2406S
LS180_LARGE_INTESTINE	36227591	36227728	36227648	36227648	Missense_Mutation	C	T	p.A2406V
NCIH630_LARGE_INTESTINE	36227591	36227728	36227665	36227665	Missense_Mutation	C	A	p.P2412T
SJSA1_BONE	36227591	36227728	36227674	36227674	Missense_Mutation	C	T	p.R2415C
NCIH630_LARGE_INTESTINE	36227591	36227728	36227675	36227675	Missense_Mutation	G	A	p.R2415H
NCIH2009_LUNG	36227591	36227728	36227693	36227693	Missense_Mutation	A	C	p.E2421A
F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	36227987	36228164	36228061	36228061	Missense_Mutation	C	G	p.Q2483E
DV90_LUNG	36210371	36210443	36210440	36210440	Nonsense_Mutation	C	T	p.R145*
DV90_LUNG	36214633	36214908	36214821	36214821	Nonsense_Mutation	C	T	p.R1083*
BT474_BREAST	36220868	36221026	36220997	36220997	Nonsense_Mutation	C	T	p.Q1683*
GP2D_LARGE_INTESTINE	36220868	36221026	36220997	36220997	Nonsense_Mutation	C	T	p.Q1683*
GP5D_LARGE_INTESTINE	36220868	36221026	36220997	36220997	Nonsense_Mutation	C	T	p.Q1683*
NCIH1048_LUNG	36227591	36227728	36227710	36227710	Nonsense_Mutation	G	T	p.E2427*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KMT2B

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 KMT2B

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KMT2B

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RelatedDrugs for KMT2B

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 KMT2B

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
KMT2B	C2239176	Liver carcinoma	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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