ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for SETD2

Gene summary

Gene information	Gene symbol	SETD2
	Gene ID	29072
	Gene name	SET domain containing 2, histone lysine methyltransferase
	Synonyms	HBP231\|HIF-1\|HIP-1\|HSPC069\|HYPB\|KMT3A\|LLS\|SET2\|p231HBP
	Cytomap	3p21.31
	Type of gene	protein-coding
	Description	histone-lysine N-methyltransferase SETD2SET domain containing 2huntingtin interacting protein 1huntingtin yeast partner Bhuntingtin-interacting protein Blysine N-methyltransferase 3Aprotein-lysine N-methyltransferase SETD2
	Modification date	20200315
	UniProtAcc	A0A1W2PPX9, C9JG86, H7BXT4, H7BZ93, H7C3H4, Q9BYW2,
	Context

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

Gene	GO ID	GO term	PubMed ID
SETD2	GO:0010569	regulation of double-strand break repair via homologous recombination	24843002
SETD2	GO:0018023	peptidyl-lysine trimethylation	27518565
SETD2	GO:0018026	peptidyl-lysine monomethylation	28753426
SETD2	GO:0032465	regulation of cytokinesis	27518565
SETD2	GO:0032727	positive regulation of interferon-alpha production	28753426
SETD2	GO:0034340	response to type I interferon	28753426
SETD2	GO:0051607	defense response to virus	28753426
SETD2	GO:0097198	histone H3-K36 trimethylation	23043551\|24843002\|26002201\|27474439\|28753426
SETD2	GO:0097676	histone H3-K36 dimethylation	26002201
SETD2	GO:1902850	microtubule cytoskeleton organization involved in mitosis	27518565
SETD2	GO:1905634	regulation of protein localization to chromatin	24843002

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Gene structures and expression levels for SETD2

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.

ENSG00000181555

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	ENST00000492397.1	SETD2-208:lncRNA:SETD2	4.617573e+01	1.091756e+00	3.416558e-18	6.432942e-15
CB	UP	ENST00000409792.3	SETD2-202:protein_coding:SETD2	2.352360e+03	9.098692e-01	2.271836e-10	1.264308e-08
CB	DOWN	ENST00000330022.11	SETD2-201:nonsense_mediated_decay:SETD2	2.190407e+02	-9.419732e-01	2.677612e-04	1.704720e-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 SETD2

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_104965	chr3	47116623:47116754:47119452:47119780:47120182:47124250	47119452:47119780
exon_skip_108227	chr3	47083720:47084382:47086195:47086314:47088113:47088247	47086195:47086314
exon_skip_119072	chr3	47113876:47114004:47116623:47116754:47120182:47120432	47116623:47116754
exon_skip_125598	chr3	47062163:47062346:47067070:47067118:47083720:47083946	47067070:47067118
exon_skip_139041	chr3	47046487:47046621:47056821:47057490:47062163:47062346	47056821:47057490
exon_skip_158323	chr3	47017638:47017739:47019760:47019840:47037666:47037777	47019760:47019840
exon_skip_171967	chr3	47056821:47057490:47062163:47062346:47067070:47067118	47062163:47062346
exon_skip_190119	chr3	47042561:47042700:47046487:47046621:47056821:47057490	47046487:47046621
exon_skip_191946	chr3	47097967:47098081:47101458:47101555:47103346:47103423	47101458:47101555
exon_skip_205382	chr3	47067070:47067118:47080916:47081083:47083720:47083946	47080916:47081083
exon_skip_206514	chr3	47062163:47062346:47064555:47064630:47067070:47067118	47064555:47064630
exon_skip_214096	chr3	47101458:47101555:47103346:47103423:47113876:47114004	47103346:47103423
exon_skip_216449	chr3	47103346:47103423:47105997:47106120:47113876:47114004	47105997:47106120
exon_skip_219759	chr3	47116623:47116754:47119452:47119780:47120182:47120432	47119452:47119780
exon_skip_222327	chr3	47086195:47086314:47088113:47088249:47097955:47097961	47088113:47088249
exon_skip_225374	chr3	47103348:47103423:47105997:47106120:47113876:47114004	47105997:47106120
exon_skip_233453	chr3	47086195:47086314:47088113:47088247:47097955:47097961	47088113:47088247
exon_skip_240553	chr3	47067070:47067118:47080801:47081083:47083720:47083946	47080801:47081083
exon_skip_282574	chr3	47120483:47124548:47126648:47126663:47163854:47163967	47126648:47126663
exon_skip_38357	chr3	47067070:47067118:47083720:47084382:47086195:47086314	47083720:47084382
exon_skip_70208	chr3	47067071:47067118:47080801:47081083:47083720:47083946	47080801:47081083
exon_skip_85318	chr3	47101458:47101555:47103346:47103423:47105997:47106120	47103346:47103423
exon_skip_9935	chr3	47116623:47116754:47119452:47119780:47120182:47120433	47119452:47119780

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 SETD2

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
ENST00000409792	47056821	47057490	Frame-shift
ENST00000409792	47062163	47062346	Frame-shift
ENST00000409792	47067070	47067118	Frame-shift
ENST00000409792	47101458	47101555	Frame-shift
ENST00000409792	47105997	47106120	Frame-shift
ENST00000409792	47126648	47126663	Frame-shift
ENST00000409792	47019760	47019840	In-frame
ENST00000409792	47046487	47046621	In-frame
ENST00000409792	47086195	47086314	In-frame
ENST00000409792	47088113	47088247	In-frame
ENST00000409792	47103346	47103423	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
ENST00000409792	47101458	47101555	Frame-shift
ENST00000409792	47105997	47106120	Frame-shift
ENST00000409792	47126648	47126663	Frame-shift
ENST00000409792	47086195	47086314	In-frame
ENST00000409792	47088113	47088247	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
ENST00000409792	47056821	47057490	Frame-shift
ENST00000409792	47062163	47062346	Frame-shift
ENST00000409792	47067070	47067118	Frame-shift
ENST00000409792	47101458	47101555	Frame-shift
ENST00000409792	47105997	47106120	Frame-shift
ENST00000409792	47126648	47126663	Frame-shift
ENST00000409792	47019760	47019840	In-frame
ENST00000409792	47046487	47046621	In-frame
ENST00000409792	47083720	47084382	In-frame
ENST00000409792	47086195	47086314	In-frame
ENST00000409792	47088113	47088247	In-frame
ENST00000409792	47103346	47103423	In-frame
ENST00000409792	47116623	47116754	In-frame

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Infer the effects of exon skipping event on protein functional features for SETD2

p-ENSG00000181555_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
ENST00000409792	8159	2564	47103346	47103423	4883	4959	1613	1638
ENST00000409792	8159	2564	47088113	47088247	5186	5319	1714	1758
ENST00000409792	8159	2564	47086195	47086314	5321	5439	1759	1798
ENST00000409792	8159	2564	47046487	47046621	7007	7140	2321	2365
ENST00000409792	8159	2564	47019760	47019840	7394	7473	2450	2476

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
ENST00000409792	8159	2564	47088113	47088247	5186	5319	1714	1758
ENST00000409792	8159	2564	47086195	47086314	5321	5439	1759	1798

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
ENST00000409792	8159	2564	47116623	47116754	4498	4628	1485	1528
ENST00000409792	8159	2564	47103346	47103423	4883	4959	1613	1638
ENST00000409792	8159	2564	47088113	47088247	5186	5319	1714	1758
ENST00000409792	8159	2564	47086195	47086314	5321	5439	1759	1798
ENST00000409792	8159	2564	47083720	47084382	5441	6102	1799	2019
ENST00000409792	8159	2564	47046487	47046621	7007	7140	2321	2365
ENST00000409792	8159	2564	47019760	47019840	7394	7473	2450	2476

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
Q9BYW2	1613	1638	1573	2564	Alternative sequence	ID=VSP_020914;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9BYW2	1613	1638	1613	1616	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5JLB
Q9BYW2	1613	1638	1618	1621	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5JLB
Q9BYW2	1613	1638	1634	1642	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5JLB
Q9BYW2	1613	1638	1625	1625	Binding site	Note=Inhibitor;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23043551;Dbxref=PMID:23043551
Q9BYW2	1613	1638	1	2564	Chain	ID=PRO_0000252367;Note=Histone-lysine N-methyltransferase SETD2
Q9BYW2	1613	1638	1550	1667	Domain	Note=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00190
Q9BYW2	1613	1638	1623	1626	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5JLB
Q9BYW2	1613	1638	1631	1631	Metal binding	Note=Zinc 3;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PDB:4FMU,ECO:0000244\|PDB:4H12,ECO:0000244\|PDB:5JJY,ECO:0000244\|PDB:5JLB,ECO:0000244\|PDB:
Q9BYW2	1613	1638	1625	1625	Mutagenesis	Note=Loss of methyltransferase activity. Abolishes ability to monomethylate STAT1. R->H%2CG;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16118227,ECO:0000269\|PubMed:28753426;Dbxref=PMID:16118227,PMID:28753426
Q9BYW2	1613	1638	1631	1631	Mutagenesis	Note=Does not affect methyltransferase activity. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28753426;Dbxref=PMID:28753426
Q9BYW2	1613	1638	1636	1636	Mutagenesis	Note=Increased methyltransferase activity. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27474439;Dbxref=PMID:27474439
Q9BYW2	1613	1638	1637	1637	Mutagenesis	Note=Increased methyltransferase activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27474439;Dbxref=PMID:27474439
Q9BYW2	1613	1638	70	2564	Natural variant	ID=VAR_079056;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1613	1638	794	2564	Natural variant	ID=VAR_079062;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1613	1638	1416	2564	Natural variant	ID=VAR_079070;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1613	1638	1496	2564	Natural variant	ID=VAR_079073;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1613	1638	1418	1714	Region	Note=Interaction with TUBA1A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27518565;Dbxref=PMID:27518565
Q9BYW2	1613	1638	1628	1629	Region	Note=Inhibitor binding;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23043551;Dbxref=PMID:23043551
Q9BYW2	1613	1638	1628	1629	Region	Note=S-adenosyl-L-methionine binding;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PDB:4H12,ECO:0000244\|PDB:5JJY,ECO:0000244\|PDB:5JLB,ECO:0000244\|PDB:5JLE,ECO:0000244\|PDB
Q9BYW2	1714	1758	1573	2564	Alternative sequence	ID=VSP_020914;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9BYW2	1714	1758	1715	2564	Alternative sequence	ID=VSP_020915;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
Q9BYW2	1714	1758	1	2564	Chain	ID=PRO_0000252367;Note=Histone-lysine N-methyltransferase SETD2
Q9BYW2	1714	1758	70	2564	Natural variant	ID=VAR_079056;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1714	1758	794	2564	Natural variant	ID=VAR_079062;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1714	1758	1416	2564	Natural variant	ID=VAR_079070;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1714	1758	1496	2564	Natural variant	ID=VAR_079073;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1714	1758	1733	1733	Natural variant	ID=VAR_069812;Note=In RCC%3B defects in recruitment of the MutS alpha complex. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23622243;Dbxref=PMID:23622243
Q9BYW2	1714	1758	1418	1714	Region	Note=Interaction with TUBA1A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27518565;Dbxref=PMID:27518565
Q9BYW2	1714	1758	1736	1736	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9BYW2	1714	1758	1736	1736	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9BYW2	1759	1798	1573	2564	Alternative sequence	ID=VSP_020914;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9BYW2	1759	1798	1715	2564	Alternative sequence	ID=VSP_020915;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
Q9BYW2	1759	1798	1	2564	Chain	ID=PRO_0000252367;Note=Histone-lysine N-methyltransferase SETD2
Q9BYW2	1759	1798	70	2564	Natural variant	ID=VAR_079056;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1759	1798	794	2564	Natural variant	ID=VAR_079062;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1759	1798	1416	2564	Natural variant	ID=VAR_079070;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1759	1798	1496	2564	Natural variant	ID=VAR_079073;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1759	1798	1769	1769	Natural variant	ID=VAR_069813;Note=In RCC%3B defects in recruitment of the MutS alpha complex. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23622243;Dbxref=PMID:23622243
Q9BYW2	2321	2365	1573	2564	Alternative sequence	ID=VSP_020914;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9BYW2	2321	2365	1715	2564	Alternative sequence	ID=VSP_020915;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
Q9BYW2	2321	2365	1	2564	Chain	ID=PRO_0000252367;Note=Histone-lysine N-methyltransferase SETD2
Q9BYW2	2321	2365	2266	2365	Compositional bias	Note=Gln-rich
Q9BYW2	2321	2365	70	2564	Natural variant	ID=VAR_079056;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	2321	2365	794	2564	Natural variant	ID=VAR_079062;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	2321	2365	1416	2564	Natural variant	ID=VAR_079070;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	2321	2365	1496	2564	Natural variant	ID=VAR_079073;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	2321	2365	2077	2564	Natural variant	ID=VAR_079081;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	2321	2365	2325	2564	Natural variant	ID=VAR_079084;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	2321	2365	2361	2361	Natural variant	ID=VAR_079085;Note=In ALL%3B unknown pathological significance%3B somatic mutation. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	2321	2365	2137	2366	Region	Note=Low charge region;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16118227;Dbxref=PMID:16118227
Q9BYW2	2450	2476	1573	2564	Alternative sequence	ID=VSP_020914;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9BYW2	2450	2476	1715	2564	Alternative sequence	ID=VSP_020915;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
Q9BYW2	2450	2476	1	2564	Chain	ID=PRO_0000252367;Note=Histone-lysine N-methyltransferase SETD2
Q9BYW2	2450	2476	2463	2486	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A7O
Q9BYW2	2450	2476	2475	2475	Mutagenesis	Note=Does not affect interaction with hyperphosphorylated POLR2A. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16314571;Dbxref=PMID:16314571
Q9BYW2	2450	2476	2476	2476	Mutagenesis	Note=Does not affect interaction with hyperphosphorylated POLR2A. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16314571;Dbxref=PMID:16314571
Q9BYW2	2450	2476	70	2564	Natural variant	ID=VAR_079056;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	2450	2476	794	2564	Natural variant	ID=VAR_079062;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	2450	2476	1416	2564	Natural variant	ID=VAR_079070;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	2450	2476	1496	2564	Natural variant	ID=VAR_079073;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	2450	2476	2077	2564	Natural variant	ID=VAR_079081;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	2450	2476	2325	2564	Natural variant	ID=VAR_079084;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	2450	2476	2457	2564	Region	Note=Interaction with POLR2A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16314571;Dbxref=PMID:16314571

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
Q9BYW2	1714	1758	1573	2564	Alternative sequence	ID=VSP_020914;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9BYW2	1714	1758	1715	2564	Alternative sequence	ID=VSP_020915;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
Q9BYW2	1714	1758	1	2564	Chain	ID=PRO_0000252367;Note=Histone-lysine N-methyltransferase SETD2
Q9BYW2	1714	1758	70	2564	Natural variant	ID=VAR_079056;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1714	1758	794	2564	Natural variant	ID=VAR_079062;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1714	1758	1416	2564	Natural variant	ID=VAR_079070;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1714	1758	1496	2564	Natural variant	ID=VAR_079073;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1714	1758	1733	1733	Natural variant	ID=VAR_069812;Note=In RCC%3B defects in recruitment of the MutS alpha complex. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23622243;Dbxref=PMID:23622243
Q9BYW2	1714	1758	1418	1714	Region	Note=Interaction with TUBA1A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27518565;Dbxref=PMID:27518565
Q9BYW2	1714	1758	1736	1736	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9BYW2	1714	1758	1736	1736	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9BYW2	1759	1798	1573	2564	Alternative sequence	ID=VSP_020914;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9BYW2	1759	1798	1715	2564	Alternative sequence	ID=VSP_020915;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
Q9BYW2	1759	1798	1	2564	Chain	ID=PRO_0000252367;Note=Histone-lysine N-methyltransferase SETD2
Q9BYW2	1759	1798	70	2564	Natural variant	ID=VAR_079056;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1759	1798	794	2564	Natural variant	ID=VAR_079062;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1759	1798	1416	2564	Natural variant	ID=VAR_079070;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1759	1798	1496	2564	Natural variant	ID=VAR_079073;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1759	1798	1769	1769	Natural variant	ID=VAR_069813;Note=In RCC%3B defects in recruitment of the MutS alpha complex. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23622243;Dbxref=PMID:23622243

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
Q9BYW2	1485	1528	1	2564	Chain	ID=PRO_0000252367;Note=Histone-lysine N-methyltransferase SETD2
Q9BYW2	1485	1528	1494	1548	Domain	Note=AWS;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00562
Q9BYW2	1485	1528	1506	1511	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5JLB
Q9BYW2	1485	1528	1521	1524	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5JLB
Q9BYW2	1485	1528	1499	1499	Metal binding	Note=Zinc 1;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PDB:4FMU,ECO:0000244\|PDB:4H12,ECO:0000244\|PDB:5JJY,ECO:0000244\|PDB:5JLB,ECO:0000244\|PDB:
Q9BYW2	1485	1528	1501	1501	Metal binding	Note=Zinc 1;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PDB:4FMU,ECO:0000244\|PDB:4H12,ECO:0000244\|PDB:5JJY,ECO:0000244\|PDB:5JLB,ECO:0000244\|PDB:
Q9BYW2	1485	1528	1516	1516	Metal binding	Note=Zinc 1;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PDB:4FMU,ECO:0000244\|PDB:4H12,ECO:0000244\|PDB:5JJY,ECO:0000244\|PDB:5JLB,ECO:0000244\|PDB:
Q9BYW2	1485	1528	1516	1516	Metal binding	Note=Zinc 2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PDB:4FMU,ECO:0000244\|PDB:4H12,ECO:0000244\|PDB:5JJY,ECO:0000244\|PDB:5JLB,ECO:0000244\|PDB:
Q9BYW2	1485	1528	1520	1520	Metal binding	Note=Zinc 1;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PDB:4FMU,ECO:0000244\|PDB:4H12,ECO:0000244\|PDB:5JJY,ECO:0000244\|PDB:5JLB,ECO:0000244\|PDB:
Q9BYW2	1485	1528	70	2564	Natural variant	ID=VAR_079056;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1485	1528	794	2564	Natural variant	ID=VAR_079062;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1485	1528	1416	2564	Natural variant	ID=VAR_079070;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1485	1528	1493	1493	Natural variant	ID=VAR_079072;Note=In ALL%3B unknown pathological significance%3B somatic mutation. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1485	1528	1496	2564	Natural variant	ID=VAR_079073;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1485	1528	1418	1714	Region	Note=Interaction with TUBA1A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27518565;Dbxref=PMID:27518565
Q9BYW2	1485	1528	1498	1498	Sequence conflict	Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9BYW2	1613	1638	1573	2564	Alternative sequence	ID=VSP_020914;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9BYW2	1613	1638	1613	1616	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5JLB
Q9BYW2	1613	1638	1618	1621	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5JLB
Q9BYW2	1613	1638	1634	1642	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5JLB
Q9BYW2	1613	1638	1625	1625	Binding site	Note=Inhibitor;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23043551;Dbxref=PMID:23043551
Q9BYW2	1613	1638	1	2564	Chain	ID=PRO_0000252367;Note=Histone-lysine N-methyltransferase SETD2
Q9BYW2	1613	1638	1550	1667	Domain	Note=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00190
Q9BYW2	1613	1638	1623	1626	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5JLB
Q9BYW2	1613	1638	1631	1631	Metal binding	Note=Zinc 3;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PDB:4FMU,ECO:0000244\|PDB:4H12,ECO:0000244\|PDB:5JJY,ECO:0000244\|PDB:5JLB,ECO:0000244\|PDB:
Q9BYW2	1613	1638	1625	1625	Mutagenesis	Note=Loss of methyltransferase activity. Abolishes ability to monomethylate STAT1. R->H%2CG;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16118227,ECO:0000269\|PubMed:28753426;Dbxref=PMID:16118227,PMID:28753426
Q9BYW2	1613	1638	1631	1631	Mutagenesis	Note=Does not affect methyltransferase activity. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28753426;Dbxref=PMID:28753426
Q9BYW2	1613	1638	1636	1636	Mutagenesis	Note=Increased methyltransferase activity. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27474439;Dbxref=PMID:27474439
Q9BYW2	1613	1638	1637	1637	Mutagenesis	Note=Increased methyltransferase activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27474439;Dbxref=PMID:27474439
Q9BYW2	1613	1638	70	2564	Natural variant	ID=VAR_079056;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1613	1638	794	2564	Natural variant	ID=VAR_079062;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1613	1638	1416	2564	Natural variant	ID=VAR_079070;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1613	1638	1496	2564	Natural variant	ID=VAR_079073;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1613	1638	1418	1714	Region	Note=Interaction with TUBA1A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27518565;Dbxref=PMID:27518565
Q9BYW2	1613	1638	1628	1629	Region	Note=Inhibitor binding;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23043551;Dbxref=PMID:23043551
Q9BYW2	1613	1638	1628	1629	Region	Note=S-adenosyl-L-methionine binding;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PDB:4H12,ECO:0000244\|PDB:5JJY,ECO:0000244\|PDB:5JLB,ECO:0000244\|PDB:5JLE,ECO:0000244\|PDB
Q9BYW2	1714	1758	1573	2564	Alternative sequence	ID=VSP_020914;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9BYW2	1714	1758	1715	2564	Alternative sequence	ID=VSP_020915;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
Q9BYW2	1714	1758	1	2564	Chain	ID=PRO_0000252367;Note=Histone-lysine N-methyltransferase SETD2
Q9BYW2	1714	1758	70	2564	Natural variant	ID=VAR_079056;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1714	1758	794	2564	Natural variant	ID=VAR_079062;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1714	1758	1416	2564	Natural variant	ID=VAR_079070;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1714	1758	1496	2564	Natural variant	ID=VAR_079073;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1714	1758	1733	1733	Natural variant	ID=VAR_069812;Note=In RCC%3B defects in recruitment of the MutS alpha complex. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23622243;Dbxref=PMID:23622243
Q9BYW2	1714	1758	1418	1714	Region	Note=Interaction with TUBA1A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27518565;Dbxref=PMID:27518565
Q9BYW2	1714	1758	1736	1736	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9BYW2	1714	1758	1736	1736	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9BYW2	1759	1798	1573	2564	Alternative sequence	ID=VSP_020914;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9BYW2	1759	1798	1715	2564	Alternative sequence	ID=VSP_020915;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
Q9BYW2	1759	1798	1	2564	Chain	ID=PRO_0000252367;Note=Histone-lysine N-methyltransferase SETD2
Q9BYW2	1759	1798	70	2564	Natural variant	ID=VAR_079056;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1759	1798	794	2564	Natural variant	ID=VAR_079062;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1759	1798	1416	2564	Natural variant	ID=VAR_079070;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1759	1798	1496	2564	Natural variant	ID=VAR_079073;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1759	1798	1769	1769	Natural variant	ID=VAR_069813;Note=In RCC%3B defects in recruitment of the MutS alpha complex. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23622243;Dbxref=PMID:23622243
Q9BYW2	1799	2019	1573	2564	Alternative sequence	ID=VSP_020914;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9BYW2	1799	2019	1715	2564	Alternative sequence	ID=VSP_020915;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
Q9BYW2	1799	2019	1	2564	Chain	ID=PRO_0000252367;Note=Histone-lysine N-methyltransferase SETD2
Q9BYW2	1799	2019	1844	1844	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:E9Q5F9
Q9BYW2	1799	2019	1845	1845	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:E9Q5F9
Q9BYW2	1799	2019	1853	1853	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
Q9BYW2	1799	2019	1872	1872	Modified residue	Note=Phosphothreonine;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
Q9BYW2	1799	2019	1888	1888	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q9BYW2	1799	2019	1952	1952	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q9BYW2	1799	2019	1980	1980	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:E9Q5F9
Q9BYW2	1799	2019	1988	1988	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:E9Q5F9
Q9BYW2	1799	2019	1995	1995	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:E9Q5F9
Q9BYW2	1799	2019	70	2564	Natural variant	ID=VAR_079056;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1799	2019	794	2564	Natural variant	ID=VAR_079062;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1799	2019	1416	2564	Natural variant	ID=VAR_079070;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1799	2019	1496	2564	Natural variant	ID=VAR_079073;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1799	2019	1804	1804	Natural variant	ID=VAR_079077;Note=In AML%3B unknown pathological significance%3B somatic mutation. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	1799	2019	1815	1815	Natural variant	ID=VAR_076536;Note=In LLS%3B unknown pathological significance. L->W;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24852293;Dbxref=dbSNP:rs869025570,PMID:24852293
Q9BYW2	1799	2019	1821	1821	Natural variant	ID=VAR_079078;Note=In ALL%3B unknown pathological significance%3B somatic mutation. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1799	2019	1868	1868	Natural variant	ID=VAR_027840;Note=A->D;Dbxref=dbSNP:rs11721074
Q9BYW2	1799	2019	1915	1915	Natural variant	ID=VAR_079079;Note=In ALL%3B unknown pathological significance%3B somatic mutation. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1799	2019	1920	1920	Natural variant	ID=VAR_079080;Note=In ALL%3B unknown pathological significance%3B somatic mutation. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	1799	2019	1962	1962	Natural variant	ID=VAR_027841;Note=P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11214970,ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs4082155,PMID:11214970,PMID:15489334
Q9BYW2	2321	2365	1573	2564	Alternative sequence	ID=VSP_020914;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9BYW2	2321	2365	1715	2564	Alternative sequence	ID=VSP_020915;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
Q9BYW2	2321	2365	1	2564	Chain	ID=PRO_0000252367;Note=Histone-lysine N-methyltransferase SETD2
Q9BYW2	2321	2365	2266	2365	Compositional bias	Note=Gln-rich
Q9BYW2	2321	2365	70	2564	Natural variant	ID=VAR_079056;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	2321	2365	794	2564	Natural variant	ID=VAR_079062;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	2321	2365	1416	2564	Natural variant	ID=VAR_079070;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	2321	2365	1496	2564	Natural variant	ID=VAR_079073;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	2321	2365	2077	2564	Natural variant	ID=VAR_079081;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	2321	2365	2325	2564	Natural variant	ID=VAR_079084;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	2321	2365	2361	2361	Natural variant	ID=VAR_079085;Note=In ALL%3B unknown pathological significance%3B somatic mutation. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	2321	2365	2137	2366	Region	Note=Low charge region;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16118227;Dbxref=PMID:16118227
Q9BYW2	2450	2476	1573	2564	Alternative sequence	ID=VSP_020914;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9BYW2	2450	2476	1715	2564	Alternative sequence	ID=VSP_020915;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
Q9BYW2	2450	2476	1	2564	Chain	ID=PRO_0000252367;Note=Histone-lysine N-methyltransferase SETD2
Q9BYW2	2450	2476	2463	2486	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A7O
Q9BYW2	2450	2476	2475	2475	Mutagenesis	Note=Does not affect interaction with hyperphosphorylated POLR2A. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16314571;Dbxref=PMID:16314571
Q9BYW2	2450	2476	2476	2476	Mutagenesis	Note=Does not affect interaction with hyperphosphorylated POLR2A. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16314571;Dbxref=PMID:16314571
Q9BYW2	2450	2476	70	2564	Natural variant	ID=VAR_079056;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	2450	2476	794	2564	Natural variant	ID=VAR_079062;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	2450	2476	1416	2564	Natural variant	ID=VAR_079070;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24662245;Dbxref=PMID:24662245
Q9BYW2	2450	2476	1496	2564	Natural variant	ID=VAR_079073;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	2450	2476	2077	2564	Natural variant	ID=VAR_079081;Note=In ALL%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	2450	2476	2325	2564	Natural variant	ID=VAR_079084;Note=In AML%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24509477;Dbxref=PMID:24509477
Q9BYW2	2450	2476	2457	2564	Region	Note=Interaction with POLR2A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16314571;Dbxref=PMID:16314571

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3'-UTR located exon skipping events that lost miRNA binding sites in SETD2

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 SETD2

- 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 SETD2

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

CDR

MSBB

IFG

exon_skip_240553

4.020764e-01

3.391910e-02

chr3

47067070

47067118

47080801

47081083

47083720

47083946

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SETD2

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 SETD2

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	TRA2A	exon_skip_70208	4.488903e-01	2.947164e-09
CB	RBM45	exon_skip_70208	-5.718888e-01	3.442261e-15
CB	PTBP1	exon_skip_70208	4.319421e-01	1.308121e-08
CB	RBM4	exon_skip_70208	5.880383e-01	3.653580e-16
IFG	MBNL1	exon_skip_233453	4.308264e-01	2.209410e-02
IFG	SRSF9	exon_skip_233453	4.317742e-01	2.177102e-02
TC	RBFOX2	exon_skip_240553	-4.194236e-01	3.381483e-08
TC	ELAVL4	exon_skip_240553	-4.403478e-01	5.648716e-09
TC	RBM3	exon_skip_240553	-4.328116e-01	1.091308e-08
TC	RBM24	exon_skip_240553	-4.102308e-01	7.148022e-08
TC	RBM45	exon_skip_240553	-4.389290e-01	6.402202e-09
TC	NUP42	exon_skip_240553	-4.420524e-01	4.856124e-09
TC	RALYL	exon_skip_240553	-4.168398e-01	4.182738e-08
TC	NOVA1	exon_skip_240553	-4.335888e-01	1.020412e-08

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RelatedDrugs for SETD2

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 SETD2

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 SETD2

Gene structures and expression levels for SETD2

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SETD2

Open reading frame (ORF) annotation in the exon skipping event for SETD2

Infer the effects of exon skipping event on protein functional features for SETD2

3'-UTR located exon skipping events that lost miRNA binding sites in SETD2

SNVs in the skipped exons for SETD2

AD stage-associated exon skippint events for SETD2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SETD2

Correlation with RNA binding proteins (RBPs) for SETD2

RelatedDrugs for SETD2

RelatedDiseases for SETD2