ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for KANSL2

Gene summary

Gene information	Gene symbol	KANSL2
	Gene ID	54934
	Gene name	KAT8 regulatory NSL complex subunit 2
	Synonyms	C12orf41\|NSL2
	Cytomap	12q13.11
	Type of gene	protein-coding
	Description	KAT8 regulatory NSL complex subunit 2NSL complex protein NSL2non-specific lethal 2 homolog
	Modification date	20180523
	UniProtAcc	Q9H9L4
	Context	PubMed: KANSL2 [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
KANSL2	GO:0043981	histone H4-K5 acetylation	20018852
KANSL2	GO:0043982	histone H4-K8 acetylation	20018852
KANSL2	GO:0043984	histone H4-K16 acetylation	20018852

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Exon skipping events across known transcript of Ensembl for KANSL2 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 KANSL2

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 KANSL2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENSG00000139620.8	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1
exon_skip_91611	12	49048735:49048843:49054250:49054402:49056342:49056375	49054250:49054402	ENSG00000139620.8	ENST00000549574.1
exon_skip_91614	12	49054322:49054402:49054977:49055026:49056342:49056375	49054977:49055026	ENSG00000139620.8	ENST00000548701.1
exon_skip_91618	12	49054322:49054402:49056342:49056437:49061475:49061572	49056342:49056437	ENSG00000139620.8	ENST00000549574.1
exon_skip_91620	12	49054250:49054402:49061475:49061572:49062888:49063008	49061475:49061572	ENSG00000139620.8	ENST00000548147.1,ENST00000420613.2,ENST00000553086.1,ENST00000550347.1,ENST00000547087.1
exon_skip_91622	12	49065701:49065745:49072818:49072933:49073437:49073476	49072818:49072933	ENSG00000139620.8	ENST00000549574.1,ENST00000420613.2,ENST00000357861.3,ENST00000550931.1,ENST00000553086.1,ENST00000550347.1
exon_skip_91623	12	49065701:49065745:49072818:49073021:49073437:49073476	49072818:49073021	ENSG00000139620.8	ENST00000547582.1
exon_skip_91627	12	49073543:49073616:49075164:49075424:49075969:49075994	49075164:49075424	ENSG00000139620.8	ENST00000420613.2,ENST00000357861.3,ENST00000546701.1
exon_skip_91628	12	49073543:49073616:49075353:49075424:49075969:49075994	49075353:49075424	ENSG00000139620.8	ENST00000550931.1
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENSG00000139620.8	ENST00000550870.1
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENSG00000139620.8	ENST00000548304.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for KANSL2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENSG00000139620.8	ENST00000550347.1,ENST00000420613.2,ENST00000548701.1
exon_skip_91611	12	49048735:49048843:49054250:49054402:49056342:49056375	49054250:49054402	ENSG00000139620.8	ENST00000549574.1
exon_skip_91614	12	49054322:49054402:49054977:49055026:49056342:49056375	49054977:49055026	ENSG00000139620.8	ENST00000548701.1
exon_skip_91618	12	49054322:49054402:49056342:49056437:49061475:49061572	49056342:49056437	ENSG00000139620.8	ENST00000549574.1
exon_skip_91620	12	49054250:49054402:49061475:49061572:49062888:49063008	49061475:49061572	ENSG00000139620.8	ENST00000548147.1,ENST00000550347.1,ENST00000420613.2,ENST00000547087.1,ENST00000553086.1
exon_skip_91622	12	49065701:49065745:49072818:49072933:49073437:49073476	49072818:49072933	ENSG00000139620.8	ENST00000550347.1,ENST00000420613.2,ENST00000549574.1,ENST00000553086.1,ENST00000357861.3,ENST00000550931.1
exon_skip_91623	12	49065701:49065745:49072818:49073021:49073437:49073476	49072818:49073021	ENSG00000139620.8	ENST00000547582.1
exon_skip_91627	12	49073543:49073616:49075164:49075424:49075969:49075994	49075164:49075424	ENSG00000139620.8	ENST00000546701.1,ENST00000420613.2,ENST00000357861.3
exon_skip_91628	12	49073543:49073616:49075353:49075424:49075969:49075994	49075353:49075424	ENSG00000139620.8	ENST00000550931.1
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENSG00000139620.8	ENST00000550870.1
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENSG00000139620.8	ENST00000548304.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for KANSL2

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
ENST00000420613	49075164	49075424	3UTR-3CDS
ENST00000420613	49061475	49061572	Frame-shift
ENST00000420613	49072818	49072933	Frame-shift
ENST00000420613	49048723	49048843	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
ENST00000420613	49075164	49075424	3UTR-3CDS
ENST00000420613	49061475	49061572	Frame-shift
ENST00000420613	49072818	49072933	Frame-shift
ENST00000420613	49048723	49048843	In-frame

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Infer the effects of exon skipping event on protein functional features for KANSL2

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
ENST00000420613	2172	492	49048723	49048843	1276	1395	409	449

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
ENST00000420613	2172	492	49048723	49048843	1276	1395	409	449

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
Q9H9L4	409	449	156	492	Alternative sequence	ID=VSP_042531;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005;Dbxref=PMID:14702039,PMID:17974005
Q9H9L4	409	449	1	492	Chain	ID=PRO_0000278292;Note=KAT8 regulatory NSL complex subunit 2
Q9H9L4	409	449	445	445	Natural variant	ID=VAR_030768;Note=P->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs3741628,PMID:14702039,PMID:15489334

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
Q9H9L4	409	449	156	492	Alternative sequence	ID=VSP_042531;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:17974005;Dbxref=PMID:14702039,PMID:17974005
Q9H9L4	409	449	1	492	Chain	ID=PRO_0000278292;Note=KAT8 regulatory NSL complex subunit 2
Q9H9L4	409	449	445	445	Natural variant	ID=VAR_030768;Note=P->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs3741628,PMID:14702039,PMID:15489334

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SNVs in the skipped exons for KANSL2

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A3A0-01	exon_skip_91604	49048724	49048843	49048790	49048790	Frame_Shift_Del	A	-	p.F610fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_91627	49075165	49075424	49075205	49075205	Frame_Shift_Del	T	-	p.R254fs
LIHC	TCGA-2Y-A9H2-01	exon_skip_91627	49075165	49075424	49075410	49075430	Frame_Shift_Del	GTTCATAACCAAAACCTGCGG	-	.
LIHC	TCGA-2Y-A9H2-01	exon_skip_91628	49075354	49075424	49075410	49075430	Frame_Shift_Del	GTTCATAACCAAAACCTGCGG	-	.
LUSC	TCGA-43-3920-01	exon_skip_91604	49048724	49048843	49048747	49048748	Frame_Shift_Ins	-	A	p.I624fs
UCEC	TCGA-AX-A0J0-01	exon_skip_91604	49048724	49048843	49048753	49048753	Nonsense_Mutation	C	A	p.E440*
UCEC	TCGA-BS-A0UV-01	exon_skip_91604	49048724	49048843	49048753	49048753	Nonsense_Mutation	C	A	p.E440*
UCEC	TCGA-D1-A16X-01	exon_skip_91604	49048724	49048843	49048753	49048753	Nonsense_Mutation	C	A	p.E440*

- 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
GCT_SOFT_TISSUE	49048724	49048843	49048774	49048774	Missense_Mutation	G	A	p.L433F
HCC1359_LUNG	49054251	49054402	49054297	49054297	Missense_Mutation	C	A	p.C360F
HCC1359_LUNG	49054251	49054402	49054298	49054298	Missense_Mutation	A	G	p.C360R
BICR22_UPPER_AERODIGESTIVE_TRACT	49054251	49054402	49054387	49054387	Missense_Mutation	G	A	p.T330M
JHOS4_OVARY	49061476	49061572	49061538	49061538	Missense_Mutation	G	A	p.A304V
KYSE410_OESOPHAGUS	49061476	49061572	49061559	49061559	Missense_Mutation	C	G	p.R297P
HT115_LARGE_INTESTINE	49072819	49072933	49072884	49072884	Missense_Mutation	C	A	p.Q160H
HT115_LARGE_INTESTINE	49072819	49073021	49072884	49072884	Missense_Mutation	C	A	p.Q160H
BICR18_UPPER_AERODIGESTIVE_TRACT	49072819	49072933	49072908	49072908	Missense_Mutation	C	G	p.E152D
BICR18_UPPER_AERODIGESTIVE_TRACT	49072819	49073021	49072908	49072908	Missense_Mutation	C	G	p.E152D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49072819	49072933	49072908	49072908	Missense_Mutation	C	G	p.E152D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49072819	49073021	49072908	49072908	Missense_Mutation	C	G	p.E152D
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49072819	49072933	49072908	49072908	Missense_Mutation	C	G	p.E152D
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49072819	49073021	49072908	49072908	Missense_Mutation	C	G	p.E152D
S117_SOFT_TISSUE	49072819	49072933	49072908	49072908	Missense_Mutation	C	G	p.E152D
S117_SOFT_TISSUE	49072819	49073021	49072908	49072908	Missense_Mutation	C	G	p.E152D
NCIH650_LUNG	49072819	49072933	49072912	49072912	Missense_Mutation	C	A	p.G151V
NCIH650_LUNG	49072819	49073021	49072912	49072912	Missense_Mutation	C	A	p.G151V
SNU1040_LARGE_INTESTINE	49072819	49072933	49072912	49072912	Missense_Mutation	C	T	p.G151E
SNU1040_LARGE_INTESTINE	49072819	49073021	49072912	49072912	Missense_Mutation	C	T	p.G151E
COLO792_SKIN	49075165	49075424	49075187	49075187	Missense_Mutation	G	A	p.P77S
LNCAPCLONEFGC_PROSTATE	49075165	49075424	49075189	49075189	Missense_Mutation	G	T	p.A76D
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49075165	49075424	49075211	49075211	Missense_Mutation	C	T	p.G69R
TE441T_SOFT_TISSUE	49075165	49075424	49075232	49075232	Missense_Mutation	T	C	p.S62G
JHH1_LIVER	49075165	49075424	49075334	49075334	Missense_Mutation	A	C	p.C28G
MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49075165	49075424	49075385	49075385	Missense_Mutation	T	C	p.T11A
MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49075354	49075424	49075385	49075385	Missense_Mutation	T	C	p.T11A
LB831BLC_URINARY_TRACT	49054251	49054402	49054271	49054271	Nonsense_Mutation	G	A	p.Q369*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KANSL2

sQTL information located at the skipped exons.

Exon skip ID	Chromosome	Three exons	Skippped exon	ENST	Cancer type	SNP id	Location	DNA change (ref/var)	P-value
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	GBM	rs2277365	chr12:49075811	G/T	2.25e-20
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	CESC	rs2277365	chr12:49075811	G/T	2.43e-23
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	ESCA	rs2277365	chr12:49075811	G/T	2.39e-18
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	HNSC	rs2277365	chr12:49075811	G/T	1.13e-72
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	BRCA	rs2277365	chr12:49075811	G/T	8.47e-130
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	KICH	rs2277365	chr12:49075811	G/T	2.41e-07
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	LGG	rs2277365	chr12:49075811	G/T	1.47e-69
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	KIRC	rs2277365	chr12:49075811	G/T	5.78e-49
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	KIRC	rs2277365	chr12:49075811	G/T	2.30e-03
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	LUAD	rs2277365	chr12:49075811	G/T	8.51e-48
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	MESO	rs2277365	chr12:49075811	G/T	2.02e-09
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	LUSC	rs2277365	chr12:49075811	G/T	6.53e-85
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	OV	rs2277365	chr12:49075811	G/T	6.27e-42
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	PAAD	rs2277365	chr12:49075811	G/T	6.50e-17
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	PRAD	rs2277365	chr12:49075811	G/T	4.10e-42
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	SARC	rs2277365	chr12:49075811	G/T	4.25e-16
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	TGCT	rs2277365	chr12:49075811	G/T	2.96e-20
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	SKCM	rs2277365	chr12:49075811	G/T	4.65e-07
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	STAD	rs2277365	chr12:49075811	G/T	1.98e-35
exon_skip_91634	12	49075353:49075424:49075754:49075848:49075969:49075994	49075754:49075848	ENST00000548304.1	THCA	rs2277365	chr12:49075811	G/T	2.89e-30
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	GBM	rs2277365	chr12:49075811	G/T	2.25e-20
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	CESC	rs2277365	chr12:49075811	G/T	2.43e-23
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	ESCA	rs2277365	chr12:49075811	G/T	2.39e-18
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	HNSC	rs2277365	chr12:49075811	G/T	1.13e-72
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	BRCA	rs2277365	chr12:49075811	G/T	8.47e-130
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	KICH	rs2277365	chr12:49075811	G/T	2.41e-07
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	LGG	rs2277365	chr12:49075811	G/T	1.47e-69
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	KIRC	rs2277365	chr12:49075811	G/T	5.78e-49
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	KIRC	rs2277365	chr12:49075811	G/T	2.30e-03
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	LUAD	rs2277365	chr12:49075811	G/T	8.51e-48
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	MESO	rs2277365	chr12:49075811	G/T	2.02e-09
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	LUSC	rs2277365	chr12:49075811	G/T	6.53e-85
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	OV	rs2277365	chr12:49075811	G/T	6.27e-42
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	PAAD	rs2277365	chr12:49075811	G/T	6.50e-17
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	PRAD	rs2277365	chr12:49075811	G/T	4.10e-42
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	SARC	rs2277365	chr12:49075811	G/T	4.25e-16
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	TGCT	rs2277365	chr12:49075811	G/T	2.96e-20
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	SKCM	rs2277365	chr12:49075811	G/T	4.65e-07
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	STAD	rs2277365	chr12:49075811	G/T	1.98e-35
exon_skip_91631	12	49075353:49075424:49075640:49075848:49075969:49075994	49075640:49075848	ENST00000550870.1	THCA	rs2277365	chr12:49075811	G/T	2.89e-30
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1	GBM	rs3741628	chr12:49048738	A/C	3.87e-05
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1	CESC	rs3741628	chr12:49048738	A/C	1.15e-13
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1	ESCA	rs3741628	chr12:49048738	A/C	4.06e-07
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1	HNSC	rs3741628	chr12:49048738	A/C	2.21e-20
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1	BRCA	rs3741628	chr12:49048738	A/C	7.78e-31
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1	LGG	rs3741628	chr12:49048738	A/C	5.40e-26
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1	KIRC	rs3741628	chr12:49048738	A/C	8.79e-12
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1	LUAD	rs3741628	chr12:49048738	A/C	1.08e-18
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1	MESO	rs3741628	chr12:49048738	A/C	4.40e-06
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1	LUSC	rs3741628	chr12:49048738	A/C	2.62e-21
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1	OV	rs3741628	chr12:49048738	A/C	5.75e-09
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1	PAAD	rs3741628	chr12:49048738	A/C	4.48e-05
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1	PRAD	rs3741628	chr12:49048738	A/C	8.53e-15
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1	SARC	rs3741628	chr12:49048738	A/C	7.57e-06
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1	TGCT	rs3741628	chr12:49048738	A/C	7.08e-08
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1	STAD	rs3741628	chr12:49048738	A/C	9.10e-13
exon_skip_91604	12	49047671:49047958:49048723:49048843:49054148:49054402	49048723:49048843	ENST00000420613.2,ENST00000548701.1,ENST00000550347.1	THCA	rs3741628	chr12:49048738	A/C	5.29e-12
exon_skip_91614	12	49054322:49054402:49054977:49055026:49056342:49056375	49054977:49055026	ENST00000548701.1	KICH	rs34469425	chr12:49054978	CT/C	1.94e-07

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KANSL2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KANSL2

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RelatedDrugs for KANSL2

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 KANSL2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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