ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for KDM3B

Gene summary

Gene information	Gene symbol	KDM3B
	Gene ID	51780
	Gene name	lysine demethylase 3B
	Synonyms	5qNCA\|C5orf7\|JMJD1B\|NET22
	Cytomap	5q31.2
	Type of gene	protein-coding
	Description	lysine-specific demethylase 3BjmjC domain-containing histone demethylation protein 2Bjumonji domain containing 1Bjumonji domain-containing protein 1Blysine (K)-specific demethylase 3Bnuclear protein 5qNCA
	Modification date	20180523
	UniProtAcc	Q7LBC6
	Context	PubMed: KDM3B [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

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

Gene

GO ID

GO term

PubMed ID

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Exon skipping events across known transcript of Ensembl for KDM3B 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 KDM3B

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 KDM3B

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_437770	5	137708481:137708530:137710781:137710895:137713408:137713514	137710781:137710895	ENSG00000120733.9	ENST00000510866.1,ENST00000314358.5,ENST00000512928.1
exon_skip_437772	5	137713408:137713514:137715272:137715397:137717204:137717279	137715272:137715397	ENSG00000120733.9	ENST00000510866.1,ENST00000314358.5,ENST00000512928.1
exon_skip_437774	5	137715272:137715397:137717204:137717279:137721710:137721879	137717204:137717279	ENSG00000120733.9	ENST00000510866.1,ENST00000314358.5
exon_skip_437777	5	137717204:137717279:137721710:137722310:137726701:137727950	137721710:137722310	ENSG00000120733.9	ENST00000314358.5
exon_skip_437779	5	137721864:137721879:137721977:137722310:137726701:137727950	137721977:137722310	ENSG00000120733.9	ENST00000510866.1,ENST00000394866.1
exon_skip_437783	5	137722265:137722310:137726701:137727950:137728859:137729061	137726701:137727950	ENSG00000120733.9	ENST00000510866.1,ENST00000394866.1,ENST00000314358.5
exon_skip_437785	5	137728859:137729061:137733866:137734081:137735548:137735588	137733866:137734081	ENSG00000120733.9	ENST00000507996.1,ENST00000510866.1,ENST00000394866.1,ENST00000314358.5,ENST00000542866.1
exon_skip_437786	5	137735550:137735701:137750820:137750928:137753171:137753299	137750820:137750928	ENSG00000120733.9	ENST00000507996.1,ENST00000510866.1,ENST00000394866.1,ENST00000314358.5,ENST00000542866.1
exon_skip_437787	5	137754641:137754921:137756394:137756651:137759763:137760030	137756394:137756651	ENSG00000120733.9	ENST00000507996.1,ENST00000510866.1,ENST00000394866.1,ENST00000314358.5,ENST00000542866.1
exon_skip_437790	5	137756394:137756651:137759763:137760030:137761099:137761271	137759763:137760030	ENSG00000120733.9	ENST00000507996.1,ENST00000510866.1,ENST00000394866.1,ENST00000314358.5,ENST00000542866.1
exon_skip_437794	5	137765937:137766114:137767113:137767248:137771308:137771721	137767113:137767248	ENSG00000120733.9	ENST00000507996.1,ENST00000510866.1,ENST00000394866.1,ENST00000314358.5,ENST00000542866.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for KDM3B

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_437770	5	137708481:137708530:137710781:137710895:137713408:137713514	137710781:137710895	ENSG00000120733.9	ENST00000314358.5,ENST00000510866.1,ENST00000512928.1
exon_skip_437772	5	137713408:137713514:137715272:137715397:137717204:137717279	137715272:137715397	ENSG00000120733.9	ENST00000314358.5,ENST00000510866.1,ENST00000512928.1
exon_skip_437774	5	137715272:137715397:137717204:137717279:137721710:137721879	137717204:137717279	ENSG00000120733.9	ENST00000314358.5,ENST00000510866.1
exon_skip_437777	5	137717204:137717279:137721710:137722310:137726701:137727950	137721710:137722310	ENSG00000120733.9	ENST00000314358.5
exon_skip_437779	5	137721864:137721879:137721977:137722310:137726701:137727950	137721977:137722310	ENSG00000120733.9	ENST00000510866.1,ENST00000394866.1
exon_skip_437783	5	137722265:137722310:137726701:137727950:137728859:137729061	137726701:137727950	ENSG00000120733.9	ENST00000314358.5,ENST00000510866.1,ENST00000394866.1
exon_skip_437785	5	137728859:137729061:137733866:137734081:137735548:137735588	137733866:137734081	ENSG00000120733.9	ENST00000314358.5,ENST00000510866.1,ENST00000394866.1,ENST00000507996.1,ENST00000542866.1
exon_skip_437786	5	137735550:137735701:137750820:137750928:137753171:137753299	137750820:137750928	ENSG00000120733.9	ENST00000314358.5,ENST00000510866.1,ENST00000394866.1,ENST00000507996.1,ENST00000542866.1
exon_skip_437787	5	137754641:137754921:137756394:137756651:137759763:137760030	137756394:137756651	ENSG00000120733.9	ENST00000314358.5,ENST00000510866.1,ENST00000394866.1,ENST00000507996.1,ENST00000542866.1
exon_skip_437790	5	137756394:137756651:137759763:137760030:137761099:137761271	137759763:137760030	ENSG00000120733.9	ENST00000314358.5,ENST00000510866.1,ENST00000394866.1,ENST00000507996.1,ENST00000542866.1
exon_skip_437794	5	137765937:137766114:137767113:137767248:137771308:137771721	137767113:137767248	ENSG00000120733.9	ENST00000314358.5,ENST00000510866.1,ENST00000394866.1,ENST00000507996.1,ENST00000542866.1

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 KDM3B

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
ENST00000314358	137715272	137715397	Frame-shift
ENST00000314358	137726701	137727950	Frame-shift
ENST00000314358	137733866	137734081	Frame-shift
ENST00000314358	137756394	137756651	Frame-shift
ENST00000314358	137710781	137710895	In-frame
ENST00000314358	137717204	137717279	In-frame
ENST00000314358	137721710	137722310	In-frame
ENST00000314358	137750820	137750928	In-frame
ENST00000314358	137759763	137760030	In-frame
ENST00000314358	137767113	137767248	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
ENST00000314358	137715272	137715397	Frame-shift
ENST00000314358	137726701	137727950	Frame-shift
ENST00000314358	137733866	137734081	Frame-shift
ENST00000314358	137756394	137756651	Frame-shift
ENST00000314358	137710781	137710895	In-frame
ENST00000314358	137717204	137717279	In-frame
ENST00000314358	137721710	137722310	In-frame
ENST00000314358	137750820	137750928	In-frame
ENST00000314358	137759763	137760030	In-frame
ENST00000314358	137767113	137767248	In-frame

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Infer the effects of exon skipping event on protein functional features for KDM3B

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
ENST00000314358	6830	1761	137710781	137710895	561	674	120	158
ENST00000314358	6830	1761	137717204	137717279	906	980	235	260
ENST00000314358	6830	1761	137721710	137722310	981	1580	260	460
ENST00000314358	6830	1761	137750820	137750928	3400	3507	1066	1102
ENST00000314358	6830	1761	137759763	137760030	4173	4439	1324	1413
ENST00000314358	6830	1761	137767113	137767248	5271	5405	1690	1735

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
ENST00000314358	6830	1761	137710781	137710895	561	674	120	158
ENST00000314358	6830	1761	137717204	137717279	906	980	235	260
ENST00000314358	6830	1761	137721710	137722310	981	1580	260	460
ENST00000314358	6830	1761	137750820	137750928	3400	3507	1066	1102
ENST00000314358	6830	1761	137759763	137760030	4173	4439	1324	1413
ENST00000314358	6830	1761	137767113	137767248	5271	5405	1690	1735

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
Q7LBC6	120	158	1	1002	Alternative sequence	ID=VSP_018298;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q7LBC6	120	158	1	344	Alternative sequence	ID=VSP_018299;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11087669;Dbxref=PMID:11087669
Q7LBC6	120	158	2	1761	Chain	ID=PRO_0000234373;Note=Lysine-specific demethylase 3B
Q7LBC6	235	260	1	1002	Alternative sequence	ID=VSP_018298;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q7LBC6	235	260	1	344	Alternative sequence	ID=VSP_018299;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11087669;Dbxref=PMID:11087669
Q7LBC6	235	260	2	1761	Chain	ID=PRO_0000234373;Note=Lysine-specific demethylase 3B
Q7LBC6	235	260	256	256	Natural variant	ID=VAR_026221;Note=A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10470851,ECO:0000269\|PubMed:11687974,ECO:0000269\|PubMed:15489334,ECO:0000269\|Ref.6;Dbxref=dbSNP:rs6865472,PMID:10470851,PMID:11687974,PMID:15
Q7LBC6	260	460	1	1002	Alternative sequence	ID=VSP_018298;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q7LBC6	260	460	1	344	Alternative sequence	ID=VSP_018299;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11087669;Dbxref=PMID:11087669
Q7LBC6	260	460	345	349	Alternative sequence	ID=VSP_018300;Note=In isoform 2. TFVPQ->MGAME;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11087669;Dbxref=PMID:11087669
Q7LBC6	260	460	2	1761	Chain	ID=PRO_0000234373;Note=Lysine-specific demethylase 3B
Q7LBC6	260	460	361	361	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q7LBC6	1066	1102	2	1761	Chain	ID=PRO_0000234373;Note=Lysine-specific demethylase 3B
Q7LBC6	1324	1413	1382	1385	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C8D
Q7LBC6	1324	1413	1390	1394	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C8D
Q7LBC6	1324	1413	2	1761	Chain	ID=PRO_0000234373;Note=Lysine-specific demethylase 3B
Q7LBC6	1324	1413	1401	1410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C8D
Q7LBC6	1324	1413	1386	1389	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C8D
Q7LBC6	1690	1735	1689	1704	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C8D
Q7LBC6	1690	1735	2	1761	Chain	ID=PRO_0000234373;Note=Lysine-specific demethylase 3B
Q7LBC6	1690	1735	1498	1721	Domain	Note=JmjC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00538
Q7LBC6	1690	1735	1707	1709	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C8D
Q7LBC6	1690	1735	1710	1719	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C8D

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
Q7LBC6	120	158	1	1002	Alternative sequence	ID=VSP_018298;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q7LBC6	120	158	1	344	Alternative sequence	ID=VSP_018299;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11087669;Dbxref=PMID:11087669
Q7LBC6	120	158	2	1761	Chain	ID=PRO_0000234373;Note=Lysine-specific demethylase 3B
Q7LBC6	235	260	1	1002	Alternative sequence	ID=VSP_018298;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q7LBC6	235	260	1	344	Alternative sequence	ID=VSP_018299;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11087669;Dbxref=PMID:11087669
Q7LBC6	235	260	2	1761	Chain	ID=PRO_0000234373;Note=Lysine-specific demethylase 3B
Q7LBC6	235	260	256	256	Natural variant	ID=VAR_026221;Note=A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10470851,ECO:0000269\|PubMed:11687974,ECO:0000269\|PubMed:15489334,ECO:0000269\|Ref.6;Dbxref=dbSNP:rs6865472,PMID:10470851,PMID:11687974,PMID:15
Q7LBC6	260	460	1	1002	Alternative sequence	ID=VSP_018298;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q7LBC6	260	460	1	344	Alternative sequence	ID=VSP_018299;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11087669;Dbxref=PMID:11087669
Q7LBC6	260	460	345	349	Alternative sequence	ID=VSP_018300;Note=In isoform 2. TFVPQ->MGAME;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11087669;Dbxref=PMID:11087669
Q7LBC6	260	460	2	1761	Chain	ID=PRO_0000234373;Note=Lysine-specific demethylase 3B
Q7LBC6	260	460	361	361	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q7LBC6	1066	1102	2	1761	Chain	ID=PRO_0000234373;Note=Lysine-specific demethylase 3B
Q7LBC6	1324	1413	1382	1385	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C8D
Q7LBC6	1324	1413	1390	1394	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C8D
Q7LBC6	1324	1413	2	1761	Chain	ID=PRO_0000234373;Note=Lysine-specific demethylase 3B
Q7LBC6	1324	1413	1401	1410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C8D
Q7LBC6	1324	1413	1386	1389	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C8D
Q7LBC6	1690	1735	1689	1704	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C8D
Q7LBC6	1690	1735	2	1761	Chain	ID=PRO_0000234373;Note=Lysine-specific demethylase 3B
Q7LBC6	1690	1735	1498	1721	Domain	Note=JmjC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00538
Q7LBC6	1690	1735	1707	1709	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C8D
Q7LBC6	1690	1735	1710	1719	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C8D

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SNVs in the skipped exons for KDM3B

- 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.

KDM3B_ESCA_exon_skip_437783_psi_boxplot.png
boxplot

KDM3B_KIRC_exon_skip_437783_psi_boxplot.png
boxplot

- 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-A39Y-01	exon_skip_437770	137710782	137710895	137710791	137710791	Frame_Shift_Del	C	-	p.P124fs
SKCM	TCGA-EE-A3JI-06	exon_skip_437772	137715273	137715397	137715279	137715280	Frame_Shift_Del	AC	-	p.196_196del
SKCM	TCGA-EE-A3JI-06	exon_skip_437772	137715273	137715397	137715279	137715280	Frame_Shift_Del	AC	-	p.Y196fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_437777	137721711	137722310	137721971	137721971	Frame_Shift_Del	C	-	p.V347fs
BLCA	TCGA-DK-A3IL-01	exon_skip_437777	137721711	137722310	137722024	137722028	Frame_Shift_Del	GGACT	-	p.R365fs
BLCA	TCGA-DK-A3IL-01	exon_skip_437777	137721711	137722310	137722024	137722028	Frame_Shift_Del	GGACT	-	p.RT365fs
BLCA	TCGA-DK-A3IL-01	exon_skip_437779	137721978	137722310	137722024	137722028	Frame_Shift_Del	GGACT	-	p.R365fs
BLCA	TCGA-DK-A3IL-01	exon_skip_437779	137721978	137722310	137722024	137722028	Frame_Shift_Del	GGACT	-	p.RT365fs
LIHC	TCGA-DD-A39Y-01	exon_skip_437783	137726702	137727950	137726897	137726897	Frame_Shift_Del	T	-	p.F527fs
READ	TCGA-EI-6510-01	exon_skip_437783	137726702	137727950	137726985	137726985	Frame_Shift_Del	A	-	p.D555fs
HNSC	TCGA-CV-7255-01	exon_skip_437783	137726702	137727950	137727094	137727097	Frame_Shift_Del	GAAA	-	p.R591fs
HNSC	TCGA-CV-7255-01	exon_skip_437783	137726702	137727950	137727094	137727097	Frame_Shift_Del	GAAA	-	p.RK591fs
UCEC	TCGA-B5-A0JS-01	exon_skip_437783	137726702	137727950	137727125	137727125	Frame_Shift_Del	A	-	p.T602fs
THCA	TCGA-EL-A3T9-01	exon_skip_437783	137726702	137727950	137727661	137727661	Frame_Shift_Del	G	-	p.P780fs
LIHC	TCGA-DD-A3A0-01	exon_skip_437785	137733867	137734081	137733882	137733882	Frame_Shift_Del	A	-	p.R949fs
LIHC	TCGA-DD-A1EG-01	exon_skip_437785	137733867	137734081	137733886	137733886	Frame_Shift_Del	G	-	p.G951fs
LIHC	TCGA-DD-A39Y-01	exon_skip_437785	137733867	137734081	137734018	137734018	Frame_Shift_Del	G	-	p.G995fs
STAD	TCGA-BR-8361-01	exon_skip_437787	137756395	137756651	137756625	137756625	Frame_Shift_Del	C	-	p.F1315fs
STAD	TCGA-BR-8372-01	exon_skip_437787	137756395	137756651	137756625	137756625	Frame_Shift_Del	C	-	p.F1315fs
STAD	TCGA-CG-5723-01	exon_skip_437787	137756395	137756651	137756625	137756625	Frame_Shift_Del	C	-	p.F1315fs
STAD	TCGA-HU-A4GQ-01	exon_skip_437787	137756395	137756651	137756625	137756625	Frame_Shift_Del	C	-	p.F1315fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_437790	137759764	137760030	137759904	137759904	Frame_Shift_Del	G	-	p.M1371fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_437790	137759764	137760030	137759976	137759976	Frame_Shift_Del	C	-	p.D1395fs
KIRC	TCGA-B0-5706-01	exon_skip_437777	137721711	137722310	137722186	137722187	Frame_Shift_Ins	-	T	p.A419fs
KIRC	TCGA-B0-5706-01	exon_skip_437779	137721978	137722310	137722186	137722187	Frame_Shift_Ins	-	T	p.A419fs
KIRC	TCGA-AS-3778-01	exon_skip_437783	137726702	137727950	137727193	137727194	Frame_Shift_Ins	-	C	p.HP624fs
UCEC	TCGA-AP-A05N-01	exon_skip_437783	137726702	137727950	137727193	137727194	Frame_Shift_Ins	-	C	p.Q624fs
COAD	TCGA-DM-A1D8-01	exon_skip_437783	137726702	137727950	137727666	137727667	Frame_Shift_Ins	-	G	p.D782fs
ESCA	TCGA-JY-A6FD-01	exon_skip_437783	137726702	137727950	137727938	137727939	Frame_Shift_Ins	-	C	p.L875fs
BLCA	TCGA-KQ-A41R-01	exon_skip_437774	137717205	137717279	137717271	137717271	Nonsense_Mutation	C	T	p.Q258*
COAD	TCGA-A6-6781-01	exon_skip_437777	137721711	137722310	137721891	137721891	Nonsense_Mutation	C	T	p.R321X
BLCA	TCGA-MV-A51V-01	exon_skip_437783	137726702	137727950	137727291	137727291	Nonsense_Mutation	C	G	p.S657*
COAD	TCGA-DM-A1D8-01	exon_skip_437783	137726702	137727950	137727672	137727672	Nonsense_Mutation	C	A	p.S784X
COAD	TCGA-AA-A01Q-01	exon_skip_437783	137726702	137727950	137727725	137727725	Nonsense_Mutation	C	T	p.R802X
CESC	TCGA-Q1-A5R1-01	exon_skip_437783	137726702	137727950	137727777	137727777	Nonsense_Mutation	C	G	p.S819*
PRAD	TCGA-XJ-A9DX-01	exon_skip_437783	137726702	137727950	137727794	137727794	Nonsense_Mutation	G	T	p.E825*
LUAD	TCGA-17-Z050-01	exon_skip_437790	137759764	137760030	137759816	137759816	Nonsense_Mutation	C	A	p.S1342*
UCEC	TCGA-B5-A0K6-01	exon_skip_437777	137721711	137722310	137721709	137721710	Splice_Site	-	G	p.G261_splice
COAD	TCGA-F4-6703-01	exon_skip_437785	137733867	137734081	137734082	137734082	Splice_Site	G	A	.

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-JY-A6FD-01
	Cancer type: ESCA
	ESID: exon_skip_437783
	Skipped exon start: 137726702
	Skipped exon end: 137727950
	Mutation start: 137727938
	Mutation end: 137727939
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.L875fs
exon_skip_437783_ESCA_TCGA-JY-A6FD-01.png
exon_skip_514860_ESCA_TCGA-JY-A6FD-01.png
exon_skip_514861_ESCA_TCGA-JY-A6FD-01.png
exon_skip_514862_ESCA_TCGA-JY-A6FD-01.png

- 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
BICR18_UPPER_AERODIGESTIVE_TRACT	137721711	137722310	137722067	137722068	Frame_Shift_Del	TG	-	p.A380fs
BICR18_UPPER_AERODIGESTIVE_TRACT	137721978	137722310	137722067	137722068	Frame_Shift_Del	TG	-	p.A380fs
SNU175_LARGE_INTESTINE	137733867	137734081	137734029	137734036	Frame_Shift_Del	CTGCCAGC	-	p.CQL999fs
EN_ENDOMETRIUM	137726702	137727950	137726896	137726897	Frame_Shift_Ins	-	T	p.F526fs
RT112_URINARY_TRACT	137715273	137715397	137715330	137715330	Missense_Mutation	G	C	p.G213A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	137721711	137722310	137721775	137721775	Missense_Mutation	A	G	p.K282R
BICR18_UPPER_AERODIGESTIVE_TRACT	137721711	137722310	137721775	137721775	Missense_Mutation	A	G	p.K282R
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	137721711	137722310	137721824	137721825	Missense_Mutation	AT	TA	p.S299T
BICR18_UPPER_AERODIGESTIVE_TRACT	137721711	137722310	137721825	137721825	Missense_Mutation	T	A	p.S299T
SF295_CENTRAL_NERVOUS_SYSTEM	137721711	137722310	137721840	137721840	Missense_Mutation	G	A	p.G304R
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	137721711	137722310	137721938	137721938	Missense_Mutation	T	G	p.D336E
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	137721711	137722310	137721938	137721938	Missense_Mutation	T	G	p.D336E
BICR18_UPPER_AERODIGESTIVE_TRACT	137721711	137722310	137721938	137721938	Missense_Mutation	T	G	p.D336E
HEC6_ENDOMETRIUM	137721711	137722310	137721993	137721993	Missense_Mutation	C	T	p.R355C
HEC6_ENDOMETRIUM	137721978	137722310	137721993	137721993	Missense_Mutation	C	T	p.R355C
KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	137721711	137722310	137722054	137722054	Missense_Mutation	G	A	p.G375D
KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	137721978	137722310	137722054	137722054	Missense_Mutation	G	A	p.G375D
OVK18_OVARY	137721711	137722310	137722260	137722260	Missense_Mutation	G	T	p.G444W
OVK18_OVARY	137721978	137722310	137722260	137722260	Missense_Mutation	G	T	p.G444W
NCIH2009_LUNG	137721711	137722310	137722308	137722308	Missense_Mutation	G	A	p.E460K
NCIH2009_LUNG	137721978	137722310	137722308	137722308	Missense_Mutation	G	A	p.E460K
EBC1_LUNG	137726702	137727950	137726720	137726720	Missense_Mutation	C	G	p.L467V
CHL1_SKIN	137726702	137727950	137726765	137726765	Missense_Mutation	C	T	p.P482S
HMCB_SKIN	137726702	137727950	137726765	137726765	Missense_Mutation	C	T	p.P482S
SKMG1_CENTRAL_NERVOUS_SYSTEM	137726702	137727950	137726796	137726796	Missense_Mutation	C	G	p.S492C
MDAMB415_BREAST	137726702	137727950	137726811	137726811	Missense_Mutation	C	G	p.A497G
MDAMB175VII_BREAST	137726702	137727950	137726922	137726922	Missense_Mutation	T	C	p.L534S
SW900_LUNG	137726702	137727950	137726934	137726934	Missense_Mutation	A	G	p.N538S
MEWO_SKIN	137726702	137727950	137727012	137727012	Missense_Mutation	T	G	p.L564R
SNU1272_KIDNEY	137726702	137727950	137727066	137727066	Missense_Mutation	G	C	p.G582A
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	137726702	137727950	137727092	137727092	Missense_Mutation	C	T	p.R591W
SHP77_LUNG	137726702	137727950	137727099	137727099	Missense_Mutation	T	G	p.V593G
MCC26_SKIN	137726702	137727950	137727228	137727228	Missense_Mutation	C	T	p.P636L
NB1_AUTONOMIC_GANGLIA	137726702	137727950	137727492	137727492	Missense_Mutation	G	A	p.R724H
PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	137726702	137727950	137727501	137727501	Missense_Mutation	C	T	p.S727L
SNU175_LARGE_INTESTINE	137726702	137727950	137727501	137727501	Missense_Mutation	C	T	p.S727L
ES2_OVARY	137726702	137727950	137727504	137727504	Missense_Mutation	C	T	p.P728L
HCC2998_LARGE_INTESTINE	137726702	137727950	137727726	137727726	Missense_Mutation	G	A	p.R802Q
SLR25_KIDNEY	137726702	137727950	137727813	137727813	Missense_Mutation	A	G	p.K831R
MFE280_ENDOMETRIUM	137726702	137727950	137727869	137727869	Missense_Mutation	G	C	p.E850Q
SNU349_KIDNEY	137726702	137727950	137727872	137727872	Missense_Mutation	C	T	p.R851C
NCIH2066_LUNG	137733867	137734081	137733887	137733887	Missense_Mutation	G	C	p.G951A
MM386_SKIN	137733867	137734081	137733895	137733895	Missense_Mutation	C	T	p.R954C
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	137733867	137734081	137733896	137733896	Missense_Mutation	G	A	p.R954H
MDAMB453_BREAST	137733867	137734081	137734035	137734035	Missense_Mutation	G	C	p.Q1000H
EKVX_LUNG	137750821	137750928	137750898	137750898	Missense_Mutation	C	G	p.L1093V
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	137750821	137750928	137750903	137750903	Missense_Mutation	G	A	p.M1094I
FTC238_THYROID	137750821	137750928	137750907	137750907	Missense_Mutation	A	G	p.T1096A
IPC298_SKIN	137756395	137756651	137756437	137756437	Missense_Mutation	C	T	p.S1253L
SNU1_STOMACH	137756395	137756651	137756556	137756556	Missense_Mutation	C	T	p.L1293F
KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	137756395	137756651	137756571	137756571	Missense_Mutation	C	T	p.H1298Y
SN12C_KIDNEY	137756395	137756651	137756578	137756578	Missense_Mutation	G	T	p.G1300V
OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	137756395	137756651	137756626	137756626	Missense_Mutation	C	T	p.P1316L
PATU8902_PANCREAS	137756395	137756651	137756640	137756640	Missense_Mutation	A	G	p.T1321A
SKGT2_STOMACH	137759764	137760030	137759935	137759935	Missense_Mutation	C	A	p.H1382N
NCIH1385_LUNG	137759764	137760030	137759972	137759972	Missense_Mutation	A	C	p.H1394P
MCC26_SKIN	137715273	137715397	137715311	137715311	Nonsense_Mutation	C	T	p.Q207*
HEC251_ENDOMETRIUM	137733867	137734081	137733880	137733880	Nonsense_Mutation	C	T	p.R949*
KM12_LARGE_INTESTINE	137721711	137722310	137722310	137722310	Splice_Site	G	T	p.E460D
KM12_LARGE_INTESTINE	137721978	137722310	137722310	137722310	Splice_Site	G	T	p.E460D

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KDM3B

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 KDM3B

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KDM3B

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RelatedDrugs for KDM3B

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 KDM3B

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
KDM3B	C0274869	Toxic effect of heavy metal	1	CTD_human

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

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