ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for KAT7

Gene summary

Gene information	Gene symbol	KAT7
	Gene ID	11143
	Gene name	lysine acetyltransferase 7
	Synonyms	HBO1\|HBOA\|MYST2\|ZC2HC7
	Cytomap	17q21.33
	Type of gene	protein-coding
	Description	histone acetyltransferase KAT7K(lysine) acetyltransferase 7MOZ, YBF2/SAS3, SAS2 and TIP60 protein 2MYST histone acetyltransferase 2histone acetyltransferase MYST2histone acetyltransferase binding to ORC1
	Modification date	20180523
	UniProtAcc	O95251
	Context	PubMed: KAT7 [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
KAT7	GO:0006260	DNA replication	16387653
KAT7	GO:0031098	stress-activated protein kinase signaling cascade	21856198
KAT7	GO:0043966	histone H3 acetylation	16387653
KAT7	GO:0043981	histone H4-K5 acetylation	16387653
KAT7	GO:0043982	histone H4-K8 acetylation	16387653
KAT7	GO:0043983	histone H4-K12 acetylation	16387653
KAT7	GO:0043984	histone H4-K16 acetylation	16387653
KAT7	GO:1900182	positive regulation of protein localization to nucleus	24739512

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Exon skipping events across known transcript of Ensembl for KAT7 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 KAT7

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 KAT7

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_153886	17	47866075:47866211:47869247:47869395:47874111:47874288	47869247:47869395	ENSG00000136504.7	ENST00000509124.1,ENST00000509773.1,ENST00000424009.2
exon_skip_153888	17	47869299:47869395:47874111:47874288:47882724:47882807	47874111:47874288	ENSG00000136504.7	ENST00000509773.1
exon_skip_153889	17	47874111:47874288:47875680:47875920:47882724:47882807	47875680:47875920	ENSG00000136504.7	ENST00000424009.2,ENST00000435742.2,ENST00000503935.2,ENST00000259021.4
exon_skip_153890	17	47875680:47875920:47882724:47882807:47886480:47886570	47882724:47882807	ENSG00000136504.7	ENST00000503935.2,ENST00000259021.4
exon_skip_153891	17	47875680:47875920:47882724:47882807:47888837:47888936	47882724:47882807	ENSG00000136504.7	ENST00000424009.2,ENST00000435742.2
exon_skip_153893	17	47882724:47882807:47886480:47886570:47888837:47888936	47886480:47886570	ENSG00000136504.7	ENST00000454930.2,ENST00000503935.2,ENST00000259021.4
exon_skip_153895	17	47882724:47882807:47888837:47888936:47893164:47893258	47888837:47888936	ENSG00000136504.7	ENST00000509773.1,ENST00000424009.2,ENST00000435742.2,ENST00000510819.1
exon_skip_153896	17	47886480:47886570:47888837:47888936:47893164:47893258	47888837:47888936	ENSG00000136504.7	ENST00000454930.2,ENST00000503935.2,ENST00000259021.4
exon_skip_153897	17	47893164:47893275:47895181:47895373:47898698:47898788	47895181:47895373	ENSG00000136504.7	ENST00000509773.1,ENST00000454930.2,ENST00000424009.2,ENST00000512616.1,ENST00000435742.2,ENST00000503935.2,ENST00000508594.1,ENST00000510819.1,ENST00000259021.4,ENST00000513171.1
exon_skip_153899	17	47899046:47899152:47900563:47900657:47903361:47903508	47900563:47900657	ENSG00000136504.7	ENST00000509773.1,ENST00000454930.2,ENST00000514540.1,ENST00000424009.2,ENST00000512616.1,ENST00000435742.2,ENST00000503935.2,ENST00000510819.1,ENST00000259021.4,ENST00000513171.1,ENST00000513980.1,ENST00000509794.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for KAT7

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_153886	17	47866075:47866211:47869247:47869395:47874111:47874288	47869247:47869395	ENSG00000136504.7	ENST00000509773.1,ENST00000424009.2,ENST00000509124.1
exon_skip_153888	17	47869299:47869395:47874111:47874288:47882724:47882807	47874111:47874288	ENSG00000136504.7	ENST00000509773.1
exon_skip_153889	17	47874111:47874288:47875680:47875920:47882724:47882807	47875680:47875920	ENSG00000136504.7	ENST00000259021.4,ENST00000424009.2,ENST00000503935.2,ENST00000435742.2
exon_skip_153890	17	47875680:47875920:47882724:47882807:47886480:47886570	47882724:47882807	ENSG00000136504.7	ENST00000259021.4,ENST00000503935.2
exon_skip_153891	17	47875680:47875920:47882724:47882807:47888837:47888936	47882724:47882807	ENSG00000136504.7	ENST00000424009.2,ENST00000435742.2
exon_skip_153893	17	47882724:47882807:47886480:47886570:47888837:47888936	47886480:47886570	ENSG00000136504.7	ENST00000259021.4,ENST00000454930.2,ENST00000503935.2
exon_skip_153895	17	47882724:47882807:47888837:47888936:47893164:47893258	47888837:47888936	ENSG00000136504.7	ENST00000509773.1,ENST00000510819.1,ENST00000424009.2,ENST00000435742.2
exon_skip_153896	17	47886480:47886570:47888837:47888936:47893164:47893258	47888837:47888936	ENSG00000136504.7	ENST00000259021.4,ENST00000454930.2,ENST00000503935.2
exon_skip_153897	17	47893164:47893275:47895181:47895373:47898698:47898788	47895181:47895373	ENSG00000136504.7	ENST00000259021.4,ENST00000454930.2,ENST00000509773.1,ENST00000510819.1,ENST00000424009.2,ENST00000503935.2,ENST00000435742.2,ENST00000513171.1,ENST00000512616.1,ENST00000508594.1
exon_skip_153899	17	47899046:47899152:47900563:47900657:47903361:47903508	47900563:47900657	ENSG00000136504.7	ENST00000259021.4,ENST00000454930.2,ENST00000509773.1,ENST00000510819.1,ENST00000424009.2,ENST00000503935.2,ENST00000435742.2,ENST00000513171.1,ENST00000514540.1,ENST00000513980.1,ENST00000512616.1,ENST00000509794.1

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 KAT7

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
ENST00000259021	47882724	47882807	Frame-shift
ENST00000259021	47900563	47900657	Frame-shift
ENST00000259021	47875680	47875920	In-frame
ENST00000259021	47886480	47886570	In-frame
ENST00000259021	47888837	47888936	In-frame
ENST00000259021	47895181	47895373	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
ENST00000259021	47882724	47882807	Frame-shift
ENST00000259021	47900563	47900657	Frame-shift
ENST00000259021	47875680	47875920	In-frame
ENST00000259021	47886480	47886570	In-frame
ENST00000259021	47888837	47888936	In-frame
ENST00000259021	47895181	47895373	In-frame

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Infer the effects of exon skipping event on protein functional features for KAT7

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
ENST00000259021	3727	611	47875680	47875920	621	860	113	193
ENST00000259021	3727	611	47886480	47886570	944	1033	221	251
ENST00000259021	3727	611	47888837	47888936	1034	1132	251	284
ENST00000259021	3727	611	47895181	47895373	1244	1435	321	385

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
ENST00000259021	3727	611	47875680	47875920	621	860	113	193
ENST00000259021	3727	611	47886480	47886570	944	1033	221	251
ENST00000259021	3727	611	47888837	47888936	1034	1132	251	284
ENST00000259021	3727	611	47895181	47895373	1244	1435	321	385

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
O95251	113	193	55	113	Alternative sequence	ID=VSP_042552;Note=In isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95251	113	193	114	193	Alternative sequence	ID=VSP_042553;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95251	113	193	1	611	Chain	ID=PRO_0000051569;Note=Histone acetyltransferase KAT7
O95251	113	193	124	124	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:21406692;Dbxref=PMID:21406692
O95251	113	193	128	128	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q5SVQ0
O95251	113	193	158	158	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
O95251	113	193	162	162	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163
O95251	113	193	164	164	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163
O95251	113	193	178	178	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O95251	113	193	176	219	Zinc finger	Note=CCHHC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01143
O95251	221	251	222	251	Alternative sequence	ID=VSP_042554;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95251	221	251	1	611	Chain	ID=PRO_0000051569;Note=Histone acetyltransferase KAT7
O95251	251	284	222	251	Alternative sequence	ID=VSP_042554;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95251	251	284	1	611	Chain	ID=PRO_0000051569;Note=Histone acetyltransferase KAT7
O95251	251	284	277	277	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q5SVQ0
O95251	321	385	339	342	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GK9
O95251	321	385	345	348	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GK9
O95251	321	385	362	367	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GK9
O95251	321	385	374	376	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GK9
O95251	321	385	1	611	Chain	ID=PRO_0000051569;Note=Histone acetyltransferase KAT7
O95251	321	385	323	323	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
O95251	321	385	338	338	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23319590;Dbxref=PMID:23319590
O95251	321	385	332	607	Domain	Note=MYST-type HAT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01063
O95251	321	385	357	360	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GK9
O95251	321	385	378	387	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GK9
O95251	321	385	338	338	Mutagenesis	Note=Decreases ubiquitination. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23319590;Dbxref=PMID:23319590
O95251	321	385	371	371	Mutagenesis	Note=No interaction with MCM2 and ORC1. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278932;Dbxref=PMID:11278932
O95251	321	385	369	371	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GK9
O95251	321	385	365	390	Zinc finger	Note=C2HC MYST-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01063

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
O95251	113	193	55	113	Alternative sequence	ID=VSP_042552;Note=In isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95251	113	193	114	193	Alternative sequence	ID=VSP_042553;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95251	113	193	1	611	Chain	ID=PRO_0000051569;Note=Histone acetyltransferase KAT7
O95251	113	193	124	124	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:21406692;Dbxref=PMID:21406692
O95251	113	193	128	128	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q5SVQ0
O95251	113	193	158	158	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
O95251	113	193	162	162	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163
O95251	113	193	164	164	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163
O95251	113	193	178	178	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O95251	113	193	176	219	Zinc finger	Note=CCHHC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01143
O95251	221	251	222	251	Alternative sequence	ID=VSP_042554;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95251	221	251	1	611	Chain	ID=PRO_0000051569;Note=Histone acetyltransferase KAT7
O95251	251	284	222	251	Alternative sequence	ID=VSP_042554;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95251	251	284	1	611	Chain	ID=PRO_0000051569;Note=Histone acetyltransferase KAT7
O95251	251	284	277	277	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q5SVQ0
O95251	321	385	339	342	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GK9
O95251	321	385	345	348	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GK9
O95251	321	385	362	367	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GK9
O95251	321	385	374	376	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GK9
O95251	321	385	1	611	Chain	ID=PRO_0000051569;Note=Histone acetyltransferase KAT7
O95251	321	385	323	323	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
O95251	321	385	338	338	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23319590;Dbxref=PMID:23319590
O95251	321	385	332	607	Domain	Note=MYST-type HAT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01063
O95251	321	385	357	360	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GK9
O95251	321	385	378	387	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GK9
O95251	321	385	338	338	Mutagenesis	Note=Decreases ubiquitination. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23319590;Dbxref=PMID:23319590
O95251	321	385	371	371	Mutagenesis	Note=No interaction with MCM2 and ORC1. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278932;Dbxref=PMID:11278932
O95251	321	385	369	371	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5GK9
O95251	321	385	365	390	Zinc finger	Note=C2HC MYST-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01063

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SNVs in the skipped exons for KAT7

- 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-G3-A3CJ-01	exon_skip_153888	47874112	47874288	47874152	47874152	Frame_Shift_Del	G	-	p.E69fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_153895 exon_skip_153896	47888838	47888936	47888892	47888892	Frame_Shift_Del	A	-	p.K114fs
LIHC	TCGA-DD-A3A0-01	exon_skip_153897	47895182	47895373	47895230	47895230	Frame_Shift_Del	A	-	p.K182fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_153899	47900564	47900657	47900582	47900582	Frame_Shift_Del	A	-	p.N313fs
BLCA	TCGA-ZF-AA4T-01	exon_skip_153897	47895182	47895373	47895328	47895329	Frame_Shift_Ins	-	TGTT	p.-216fs
UCEC	TCGA-B5-A0JY-01	exon_skip_153893	47886481	47886570	47886511	47886511	Nonsense_Mutation	G	T	p.E232*
STAD	TCGA-BR-8680-01	exon_skip_153886	47869248	47869395	47869397	47869398	Splice_Site	-	A	.
STAD	TCGA-HU-A4GU-01	exon_skip_153886	47869248	47869395	47869397	47869398	Splice_Site	-	A	.
LUSC	TCGA-18-3407-01	exon_skip_153893	47886481	47886570	47886480	47886480	Splice_Site	G	T	p.V222_splice

- 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
HEC6_ENDOMETRIUM	47874112	47874288	47874140	47874141	Frame_Shift_Del	TT	-	p.F65fs
HT55_LARGE_INTESTINE	47869248	47869395	47869293	47869293	Missense_Mutation	T	C	p.S21P
RL952_ENDOMETRIUM	47869248	47869395	47869312	47869312	Missense_Mutation	C	T	p.T27I
HCC1569_BREAST	47875681	47875920	47875692	47875692	Missense_Mutation	A	G	p.T118A
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47875681	47875920	47875714	47875714	Missense_Mutation	C	T	p.P125L
SNU81_LARGE_INTESTINE	47875681	47875920	47875720	47875720	Missense_Mutation	G	A	p.R127Q
DV90_LUNG	47875681	47875920	47875801	47875801	Missense_Mutation	C	A	p.A154D
CALU1_LUNG	47875681	47875920	47875810	47875810	Missense_Mutation	T	C	p.M157T
OVCAR4_OVARY	47875681	47875920	47875815	47875815	Missense_Mutation	C	A	p.L159M
JHUEM7_ENDOMETRIUM	47875681	47875920	47875855	47875855	Missense_Mutation	G	A	p.R172H
HEC108_ENDOMETRIUM	47875681	47875920	47875861	47875861	Missense_Mutation	G	A	p.R174H
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47875681	47875920	47875861	47875861	Missense_Mutation	G	A	p.R174H
HCC1833_LUNG	47886481	47886570	47886487	47886487	Missense_Mutation	G	A	p.A224T
NBSUSSR_AUTONOMIC_GANGLIA	47886481	47886570	47886497	47886497	Missense_Mutation	G	T	p.R227L
NCIH322_LUNG	47895182	47895373	47895221	47895221	Missense_Mutation	A	C	p.N335H
RCCAB_KIDNEY	47895182	47895373	47895248	47895248	Missense_Mutation	C	T	p.R344C
HCT15_LARGE_INTESTINE	47895182	47895373	47895299	47895299	Missense_Mutation	C	T	p.R361W
HRT18_LARGE_INTESTINE	47895182	47895373	47895299	47895299	Missense_Mutation	C	T	p.R361W
SKMEL2_SKIN	47895182	47895373	47895300	47895300	Missense_Mutation	G	A	p.R361Q
PACADD137_PANCREAS	47895182	47895373	47895315	47895315	Missense_Mutation	A	G	p.Y366C
NCIH650_LUNG	47895182	47895373	47895337	47895337	Missense_Mutation	A	C	p.K373N
HEC6_ENDOMETRIUM	47895182	47895373	47895358	47895358	Missense_Mutation	A	G	p.I380M
HEC251_ENDOMETRIUM	47900564	47900657	47900569	47900569	Missense_Mutation	G	T	p.K464N
SNU81_LARGE_INTESTINE	47900564	47900657	47900569	47900569	Missense_Mutation	G	T	p.K464N
MM426_SKIN	47895182	47895373	47895212	47895212	Nonsense_Mutation	G	T	p.E332*
MZ7MEL_SKIN	47895182	47895373	47895268	47895268	Nonsense_Mutation	G	A	p.W350*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KAT7

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KAT7

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KAT7

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RelatedDrugs for KAT7

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 KAT7

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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