ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for KMT2C

Gene summary

Gene information	Gene symbol	KMT2C
	Gene ID	58508
	Gene name	lysine methyltransferase 2C
	Synonyms	HALR\|KLEFS2\|MLL3
	Cytomap	7q36.1
	Type of gene	protein-coding
	Description	histone-lysine N-methyltransferase 2CALR-like proteinhistone-lysine N-methyltransferase MLL3histone-lysine N-methyltransferase, H3 lysine-4 specifichomologous to ALR proteinlysine (K)-specific methyltransferase 2Cmyeloid/lymphoid or mixed-lineage le
	Modification date	20200320
	UniProtAcc	C9J4Z5, H0Y765, H0YMU7, H0YNL4, H7BY37, H7C212, H7C2V8, Q8NEZ4,
	Context

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
KMT2C	GO:0097692	histone H3-K4 monomethylation	26324722

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Gene structures and expression levels for KMT2C

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000055609

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
CB	UP	ENST00000418673.1	KMT2C-205:protein_coding:KMT2C	1.018421e+01	9.992946e-01	2.295887e-06	3.038471e-05
CB	UP	ENST00000473186.5	KMT2C-208:retained_intron:KMT2C	1.315217e+02	9.007853e-01	4.285821e-04	2.529264e-03

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for KMT2C

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_12669	chr7	152222001:152222066:152222573:152222682:152224015:152224179	152222573:152222682
exon_skip_181844	chr7	152156205:152156274:152157761:152157925:152158863:152159072	152157761:152157925
exon_skip_189591	chr7	152156205:152156346:152157761:152157925:152158857:152159072	152157761:152157925
exon_skip_191215	chr7	152311798:152311946:152315138:152315338:152330601:152330739	152315138:152315338
exon_skip_196404	chr7	152199279:152199459:152202934:152203064:152205106:152205225	152202934:152203064
exon_skip_200298	chr7	152194440:152194568:152195907:152196011:152199279:152199459	152195907:152196011
exon_skip_203073	chr7	152138796:152138904:152139186:152139259:152139675:152139791	152139186:152139259
exon_skip_204067	chr7	152167146:152167378:152169186:152169249:152171264:152171342	152169186:152169249
exon_skip_209236	chr7	152156205:152156346:152157761:152157925:152158863:152159072	152157761:152157925
exon_skip_213239	chr7	152265038:152265209:152273705:152273867:152309966:152310075	152273705:152273867
exon_skip_227466	chr7	152180711:152182594:152182974:152183156:152185558:152185631	152182974:152183156
exon_skip_24000	chr7	152222573:152222682:152224015:152224179:152224435:152224616	152224015:152224179
exon_skip_253771	chr7	152202934:152203064:152205106:152205225:152207300:152207425	152205106:152205225
exon_skip_257004	chr7	152263016:152263130:152265038:152265209:152273705:152273867	152265038:152265209
exon_skip_282091	chr7	152207300:152207428:152220523:152220735:152222001:152222066	152220523:152220735
exon_skip_2869	chr7	152150900:152151007:152151442:152151581:152152705:152152954	152151442:152151581
exon_skip_288201	chr7	152156205:152156346:152157761:152157925:152158863:152158997	152157761:152157925
exon_skip_33884	chr7	152235817:152235933:152238707:152238826:152247902:152248019	152238707:152238826
exon_skip_53004	chr7	152247902:152248620:152249876:152249953:152250853:152250966	152249876:152249953
exon_skip_54732	chr7	152194450:152194568:152195907:152196011:152199279:152199459	152195907:152196011
exon_skip_95506	chr7	152202934:152203064:152205106:152205225:152207300:152207428	152205106:152205225

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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Open reading frame (ORF) annotation in the exon skipping event for KMT2C

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000262189	152151442	152151581	Frame-shift
ENST00000355193	152151442	152151581	Frame-shift
ENST00000262189	152169186	152169249	Frame-shift
ENST00000355193	152169186	152169249	Frame-shift
ENST00000262189	152182974	152183156	In-frame
ENST00000355193	152182974	152183156	In-frame
ENST00000262189	152195907	152196011	In-frame
ENST00000355193	152195907	152196011	In-frame
ENST00000262189	152205106	152205225	In-frame
ENST00000355193	152205106	152205225	In-frame
ENST00000262189	152224015	152224179	In-frame
ENST00000355193	152224015	152224179	In-frame
ENST00000262189	152238707	152238826	In-frame
ENST00000355193	152238707	152238826	In-frame
ENST00000262189	152315138	152315338	In-frame
ENST00000355193	152315138	152315338	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000262189	152169186	152169249	Frame-shift
ENST00000355193	152169186	152169249	Frame-shift
ENST00000262189	152265038	152265209	Frame-shift
ENST00000355193	152265038	152265209	Frame-shift
ENST00000262189	152273705	152273867	Frame-shift
ENST00000355193	152273705	152273867	Frame-shift
ENST00000262189	152195907	152196011	In-frame
ENST00000355193	152195907	152196011	In-frame
ENST00000262189	152238707	152238826	In-frame
ENST00000355193	152238707	152238826	In-frame
ENST00000262189	152315138	152315338	In-frame
ENST00000355193	152315138	152315338	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000262189	152139186	152139259	Frame-shift
ENST00000355193	152139186	152139259	Frame-shift
ENST00000262189	152151442	152151581	Frame-shift
ENST00000355193	152151442	152151581	Frame-shift
ENST00000262189	152169186	152169249	Frame-shift
ENST00000355193	152169186	152169249	Frame-shift
ENST00000262189	152202934	152203064	Frame-shift
ENST00000355193	152202934	152203064	Frame-shift
ENST00000262189	152222573	152222682	Frame-shift
ENST00000355193	152222573	152222682	Frame-shift
ENST00000262189	152195907	152196011	In-frame
ENST00000355193	152195907	152196011	In-frame
ENST00000262189	152205106	152205225	In-frame
ENST00000355193	152205106	152205225	In-frame
ENST00000262189	152220523	152220735	In-frame
ENST00000355193	152220523	152220735	In-frame
ENST00000262189	152224015	152224179	In-frame
ENST00000355193	152224015	152224179	In-frame
ENST00000262189	152238707	152238826	In-frame
ENST00000355193	152238707	152238826	In-frame
ENST00000262189	152249876	152249953	In-frame
ENST00000355193	152249876	152249953	In-frame

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Infer the effects of exon skipping event on protein functional features for KMT2C

p-ENSG00000055609_img4.png
boxplot

Loci of skipped exons in ROSMAP 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
ENST00000262189	16879	4911	152315138	152315338	609	808	130	196
ENST00000355193	16875	4911	152315138	152315338	609	808	130	196
ENST00000262189	16879	4911	152238707	152238826	2752	2870	844	883
ENST00000355193	16875	4911	152238707	152238826	2752	2870	844	883
ENST00000262189	16879	4911	152224015	152224179	3378	3541	1053	1107
ENST00000355193	16875	4911	152224015	152224179	3378	3541	1053	1107
ENST00000262189	16879	4911	152205106	152205225	4061	4179	1280	1320
ENST00000355193	16875	4911	152205106	152205225	4061	4179	1280	1320
ENST00000262189	16879	4911	152195907	152196011	4493	4596	1424	1459
ENST00000355193	16875	4911	152195907	152196011	4493	4596	1424	1459
ENST00000262189	16879	4911	152182974	152183156	5302	5483	1694	1754
ENST00000355193	16875	4911	152182974	152183156	5302	5483	1694	1754

Loci of skipped exons in MSBB 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
ENST00000262189	16879	4911	152315138	152315338	609	808	130	196
ENST00000355193	16875	4911	152315138	152315338	609	808	130	196
ENST00000262189	16879	4911	152238707	152238826	2752	2870	844	883
ENST00000355193	16875	4911	152238707	152238826	2752	2870	844	883
ENST00000262189	16879	4911	152195907	152196011	4493	4596	1424	1459
ENST00000355193	16875	4911	152195907	152196011	4493	4596	1424	1459

Loci of skipped exons in Mayo 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
ENST00000262189	16879	4911	152249876	152249953	1955	2031	578	604
ENST00000355193	16875	4911	152249876	152249953	1955	2031	578	604
ENST00000262189	16879	4911	152238707	152238826	2752	2870	844	883
ENST00000355193	16875	4911	152238707	152238826	2752	2870	844	883
ENST00000262189	16879	4911	152224015	152224179	3378	3541	1053	1107
ENST00000355193	16875	4911	152224015	152224179	3378	3541	1053	1107
ENST00000262189	16879	4911	152220523	152220735	3719	3930	1166	1237
ENST00000355193	16875	4911	152220523	152220735	3719	3930	1166	1237
ENST00000262189	16879	4911	152205106	152205225	4061	4179	1280	1320
ENST00000355193	16875	4911	152205106	152205225	4061	4179	1280	1320
ENST00000262189	16879	4911	152195907	152196011	4493	4596	1424	1459
ENST00000355193	16875	4911	152195907	152196011	4493	4596	1424	1459

Lost protein functional features of individual exon skipping events in ROSMAP.

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
Q8NEZ4	130	196	1	939	Alternative sequence	ID=VSP_008561;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11718452;Dbxref=PMID:11718452
Q8NEZ4	130	196	1	939	Alternative sequence	ID=VSP_008561;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11718452;Dbxref=PMID:11718452
Q8NEZ4	130	196	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	130	196	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	844	883	1	939	Alternative sequence	ID=VSP_008561;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11718452;Dbxref=PMID:11718452
Q8NEZ4	844	883	1	939	Alternative sequence	ID=VSP_008561;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11718452;Dbxref=PMID:11718452
Q8NEZ4	844	883	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	844	883	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	844	883	854	854	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q8NEZ4	844	883	854	854	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q8NEZ4	844	883	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	844	883	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1053	1107	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1053	1107	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1053	1107	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1053	1107	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1053	1107	1007	1057	Zinc finger	Note=PHD-type 6;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00146
Q8NEZ4	1053	1107	1007	1057	Zinc finger	Note=PHD-type 6;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00146
Q8NEZ4	1053	1107	1084	1139	Zinc finger	Note=PHD-type 7;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00146
Q8NEZ4	1053	1107	1084	1139	Zinc finger	Note=PHD-type 7;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00146
Q8NEZ4	1280	1320	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1280	1320	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1280	1320	1301	1301	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:21406692;Dbxref=PMID:21406692
Q8NEZ4	1280	1320	1301	1301	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:21406692;Dbxref=PMID:21406692
Q8NEZ4	1280	1320	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1280	1320	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1280	1320	1286	1286	Sequence conflict	Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8NEZ4	1280	1320	1286	1286	Sequence conflict	Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8NEZ4	1424	1459	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1424	1459	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1424	1459	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1424	1459	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1694	1754	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1694	1754	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1694	1754	1754	1787	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NEZ4	1694	1754	1754	1787	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NEZ4	1694	1754	1719	1796	Compositional bias	Note=Gln-rich
Q8NEZ4	1694	1754	1719	1796	Compositional bias	Note=Gln-rich
Q8NEZ4	1694	1754	1687	1706	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YUK
Q8NEZ4	1694	1754	1687	1706	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YUK
Q8NEZ4	1694	1754	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1694	1754	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1694	1754	1481	4911	Natural variant	ID=VAR_080247;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22726846;Dbxref=PMID:22726846
Q8NEZ4	1694	1754	1481	4911	Natural variant	ID=VAR_080247;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22726846;Dbxref=PMID:22726846

Lost protein functional features of individual exon skipping events in MSBB.

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
Q8NEZ4	130	196	1	939	Alternative sequence	ID=VSP_008561;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11718452;Dbxref=PMID:11718452
Q8NEZ4	130	196	1	939	Alternative sequence	ID=VSP_008561;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11718452;Dbxref=PMID:11718452
Q8NEZ4	130	196	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	130	196	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	844	883	1	939	Alternative sequence	ID=VSP_008561;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11718452;Dbxref=PMID:11718452
Q8NEZ4	844	883	1	939	Alternative sequence	ID=VSP_008561;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11718452;Dbxref=PMID:11718452
Q8NEZ4	844	883	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	844	883	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	844	883	854	854	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q8NEZ4	844	883	854	854	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q8NEZ4	844	883	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	844	883	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1424	1459	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1424	1459	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1424	1459	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1424	1459	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077

Lost protein functional features of individual exon skipping events in Mayo.

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
Q8NEZ4	578	604	1	939	Alternative sequence	ID=VSP_008561;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11718452;Dbxref=PMID:11718452
Q8NEZ4	578	604	1	939	Alternative sequence	ID=VSP_008561;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11718452;Dbxref=PMID:11718452
Q8NEZ4	578	604	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	578	604	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	578	604	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	578	604	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	578	604	579	579	Sequence conflict	Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8NEZ4	578	604	579	579	Sequence conflict	Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8NEZ4	844	883	1	939	Alternative sequence	ID=VSP_008561;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11718452;Dbxref=PMID:11718452
Q8NEZ4	844	883	1	939	Alternative sequence	ID=VSP_008561;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11718452;Dbxref=PMID:11718452
Q8NEZ4	844	883	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	844	883	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	844	883	854	854	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q8NEZ4	844	883	854	854	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q8NEZ4	844	883	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	844	883	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1053	1107	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1053	1107	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1053	1107	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1053	1107	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1053	1107	1007	1057	Zinc finger	Note=PHD-type 6;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00146
Q8NEZ4	1053	1107	1007	1057	Zinc finger	Note=PHD-type 6;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00146
Q8NEZ4	1053	1107	1084	1139	Zinc finger	Note=PHD-type 7;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00146
Q8NEZ4	1053	1107	1084	1139	Zinc finger	Note=PHD-type 7;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00146
Q8NEZ4	1166	1237	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1166	1237	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1166	1237	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1166	1237	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1280	1320	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1280	1320	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1280	1320	1301	1301	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:21406692;Dbxref=PMID:21406692
Q8NEZ4	1280	1320	1301	1301	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:21406692;Dbxref=PMID:21406692
Q8NEZ4	1280	1320	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1280	1320	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1280	1320	1286	1286	Sequence conflict	Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8NEZ4	1280	1320	1286	1286	Sequence conflict	Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8NEZ4	1424	1459	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1424	1459	1	4911	Chain	ID=PRO_0000124879;Note=Histone-lysine N-methyltransferase 2C
Q8NEZ4	1424	1459	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077
Q8NEZ4	1424	1459	564	4911	Natural variant	ID=VAR_080246;Note=In KLEFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29069077;Dbxref=PMID:29069077

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3'-UTR located exon skipping events that lost miRNA binding sites in KMT2C

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for KMT2C

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for KMT2C

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KMT2C

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for KMT2C

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	DAZAP1	exon_skip_204067	-4.423491e-01	1.621172e-08
CB	CNOT4	exon_skip_204067	-4.185979e-01	1.080558e-07
CB	PCBP4	exon_skip_204067	4.818554e-01	4.918562e-10
CB	CNOT4	exon_skip_200298	-5.171944e-01	5.157905e-11
CB	TRA2A	exon_skip_200298	-5.627089e-01	3.811020e-13
CB	MBNL1	exon_skip_33884	-4.307219e-01	2.817299e-07
CB	PCBP1	exon_skip_33884	-4.658847e-01	2.052018e-08
CB	PCBP4	exon_skip_33884	4.242756e-01	4.413967e-07
CB	HNRNPC	exon_skip_33884	-5.037289e-01	8.622897e-10
IFG	NUP42	exon_skip_209236	4.935417e-01	1.669857e-02

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RelatedDrugs for KMT2C

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for KMT2C

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 RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for KMT2C

Gene structures and expression levels for KMT2C

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for KMT2C

Open reading frame (ORF) annotation in the exon skipping event for KMT2C

Infer the effects of exon skipping event on protein functional features for KMT2C

3'-UTR located exon skipping events that lost miRNA binding sites in KMT2C

SNVs in the skipped exons for KMT2C

AD stage-associated exon skippint events for KMT2C

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KMT2C

Correlation with RNA binding proteins (RBPs) for KMT2C

RelatedDrugs for KMT2C

RelatedDiseases for KMT2C