ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ZNF451

Gene summary

Gene information	Gene symbol	ZNF451
	Gene ID	26036
	Gene name	zinc finger protein 451
	Synonyms	COASTER\|dJ417I1.1
	Cytomap	6p12.1
	Type of gene	protein-coding
	Description	E3 SUMO-protein ligase ZNF451E3 SUMO-protein transferase ZNF451coactivator for steroid receptors
	Modification date	20180523
	UniProtAcc	Q9Y4E5
	Context	PubMed: ZNF451 [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
ZNF451	GO:0016925	protein sumoylation	26524494

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Exon skipping events across known transcript of Ensembl for ZNF451 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 ZNF451

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 ZNF451

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_452796	6	56955022:56955072:56955608:56955692:56963858:56963939	56955608:56955692	ENSG00000112200.12	ENST00000444273.2,ENST00000491832.2,ENST00000370710.6,ENST00000357489.3,ENST00000370708.4,ENST00000370711.5,ENST00000370706.4,ENST00000370702.1
exon_skip_452797	6	56955022:56955072:56955630:56955692:56963858:56963939	56955630:56955692	ENSG00000112200.12	ENST00000502749.1
exon_skip_452799	6	56963858:56963939:56964266:56964366:56989531:56989657	56964266:56964366	ENSG00000112200.12	ENST00000509071.1,ENST00000370711.5
exon_skip_452801	6	56963858:56963939:56989531:56989657:56993526:56993584	56989531:56989657	ENSG00000112200.12	ENST00000444273.2,ENST00000515290.1,ENST00000491832.2,ENST00000357489.3,ENST00000370706.4,ENST00000510483.1,ENST00000502749.1
exon_skip_452806	6	56989531:56989657:56993526:56993638:56997839:56997952	56993526:56993638	ENSG00000112200.12	ENST00000444273.2,ENST00000515290.1,ENST00000491832.2,ENST00000357489.3,ENST00000370706.4,ENST00000510483.1,ENST00000502749.1
exon_skip_452807	6	56993526:56993638:56997839:56997990:56999541:56999668	56997839:56997990	ENSG00000112200.12	ENST00000444273.2,ENST00000491832.2,ENST00000357489.3,ENST00000370706.4,ENST00000502749.1
exon_skip_452812	6	57011887:57013491:57015516:57015660:57017018:57017149	57015516:57015660	ENSG00000112200.12	ENST00000491832.2,ENST00000370706.4
exon_skip_452822	6	57015516:57015660:57017018:57017149:57018658:57018845	57017018:57017149	ENSG00000112200.12	ENST00000491832.2,ENST00000370706.4
exon_skip_452826	6	57017018:57017149:57018658:57018845:57025881:57025950	57018658:57018845	ENSG00000112200.12	ENST00000357489.3,ENST00000370706.4
exon_skip_452829	6	57018658:57018845:57025881:57025950:57033220:57033430	57025881:57025950	ENSG00000112200.12	ENST00000357489.3,ENST00000370706.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ZNF451

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_452796	6	56955022:56955072:56955608:56955692:56963858:56963939	56955608:56955692	ENSG00000112200.12	ENST00000370706.4,ENST00000357489.3,ENST00000370708.4,ENST00000370702.1,ENST00000444273.2,ENST00000370711.5,ENST00000491832.2,ENST00000370710.6
exon_skip_452797	6	56955022:56955072:56955630:56955692:56963858:56963939	56955630:56955692	ENSG00000112200.12	ENST00000502749.1
exon_skip_452801	6	56963858:56963939:56989531:56989657:56993526:56993584	56989531:56989657	ENSG00000112200.12	ENST00000515290.1,ENST00000510483.1,ENST00000370706.4,ENST00000357489.3,ENST00000444273.2,ENST00000491832.2,ENST00000502749.1
exon_skip_452806	6	56989531:56989657:56993526:56993638:56997839:56997952	56993526:56993638	ENSG00000112200.12	ENST00000515290.1,ENST00000510483.1,ENST00000370706.4,ENST00000357489.3,ENST00000444273.2,ENST00000491832.2,ENST00000502749.1
exon_skip_452807	6	56993526:56993638:56997839:56997990:56999541:56999668	56997839:56997990	ENSG00000112200.12	ENST00000370706.4,ENST00000357489.3,ENST00000444273.2,ENST00000491832.2,ENST00000502749.1
exon_skip_452812	6	57011887:57013491:57015516:57015660:57017018:57017149	57015516:57015660	ENSG00000112200.12	ENST00000370706.4,ENST00000491832.2
exon_skip_452822	6	57015516:57015660:57017018:57017149:57018658:57018845	57017018:57017149	ENSG00000112200.12	ENST00000370706.4,ENST00000491832.2
exon_skip_452826	6	57017018:57017149:57018658:57018845:57025881:57025950	57018658:57018845	ENSG00000112200.12	ENST00000370706.4,ENST00000357489.3
exon_skip_452829	6	57018658:57018845:57025881:57025950:57033220:57033430	57025881:57025950	ENSG00000112200.12	ENST00000370706.4,ENST00000357489.3

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 ZNF451

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
ENST00000370706	56993526	56993638	Frame-shift
ENST00000370706	56997839	56997990	Frame-shift
ENST00000370706	57017018	57017149	Frame-shift
ENST00000370706	57018658	57018845	Frame-shift
ENST00000370706	56955608	56955692	In-frame
ENST00000370706	56989531	56989657	In-frame
ENST00000370706	57015516	57015660	In-frame
ENST00000370706	57025881	57025950	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
ENST00000370706	56993526	56993638	Frame-shift
ENST00000370706	56997839	56997990	Frame-shift
ENST00000370706	57017018	57017149	Frame-shift
ENST00000370706	57018658	57018845	Frame-shift
ENST00000370706	56955608	56955692	In-frame
ENST00000370706	56989531	56989657	In-frame
ENST00000370706	57015516	57015660	In-frame
ENST00000370706	57025881	57025950	In-frame

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Infer the effects of exon skipping event on protein functional features for ZNF451

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
ENST00000370706	5285	1061	56955608	56955692	266	349	7	35
ENST00000370706	5285	1061	56989531	56989657	431	556	62	104
ENST00000370706	5285	1061	57015516	57015660	2853	2996	869	917
ENST00000370706	5285	1061	57025881	57025950	3315	3383	1023	1046

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
ENST00000370706	5285	1061	56955608	56955692	266	349	7	35
ENST00000370706	5285	1061	56989531	56989657	431	556	62	104
ENST00000370706	5285	1061	57015516	57015660	2853	2996	869	917
ENST00000370706	5285	1061	57025881	57025950	3315	3383	1023	1046

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
Q9Y4E5	7	35	32	40	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D2M
Q9Y4E5	7	35	1	1061	Chain	ID=PRO_0000047598;Note=E3 SUMO-protein ligase ZNF451
Q9Y4E5	7	35	31	34	Mutagenesis	Note=Nearly abolishes E3 SUMO-protein ligase activity (in vitro). IQFV->AQAA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26524493;Dbxref=PMID:26524493
Q9Y4E5	7	35	1	344	Region	Note=Important for interaction with SUMO1 and SUMO2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18656483;Dbxref=PMID:18656483
Q9Y4E5	7	35	1	246	Region	Note=Sufficient for E3 SUMO-protein ligase activity;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26524493;Dbxref=PMID:26524493
Q9Y4E5	7	35	30	37	Region	Note=Interaction with SUMO2 1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26524494;Dbxref=PMID:26524494
Q9Y4E5	62	104	63	1061	Alternative sequence	ID=VSP_035312;Note=In isoform 3. ENIKRKDHIDYQKDKVALTLARLARHVEVEKQQKEEKNRAFREKIDFQHAHGLQELEFIRGHSDTEAARLCVDQWLKMPGLKTGTINCGTKSSFRRGGHTWVSGKPILCPIMHCNKEFDNGHLLLGHLKRFDHSPCDPTITLHGPFFSSFACVVCYKKFVTQQQYRDHLFDKEATDDGHNNNLLPQIIQCFACPNCFLLFSRKEECSKHMSGKNHFHQSFKL
Q9Y4E5	62	104	1	1061	Chain	ID=PRO_0000047598;Note=E3 SUMO-protein ligase ZNF451
Q9Y4E5	62	104	75	75	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
Q9Y4E5	62	104	77	77	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
Q9Y4E5	62	104	1	344	Region	Note=Important for interaction with SUMO1 and SUMO2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18656483;Dbxref=PMID:18656483
Q9Y4E5	62	104	1	246	Region	Note=Sufficient for E3 SUMO-protein ligase activity;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26524493;Dbxref=PMID:26524493
Q9Y4E5	869	917	63	1061	Alternative sequence	ID=VSP_035312;Note=In isoform 3. ENIKRKDHIDYQKDKVALTLARLARHVEVEKQQKEEKNRAFREKIDFQHAHGLQELEFIRGHSDTEAARLCVDQWLKMPGLKTGTINCGTKSSFRRGGHTWVSGKPILCPIMHCNKEFDNGHLLLGHLKRFDHSPCDPTITLHGPFFSSFACVVCYKKFVTQQQYRDHLFDKEATDDGHNNNLLPQIIQCFACPNCFLLFSRKEECSKHMSGKNHFHQSFKL
Q9Y4E5	869	917	870	917	Alternative sequence	ID=VSP_008624;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.1
Q9Y4E5	869	917	1	1061	Chain	ID=PRO_0000047598;Note=E3 SUMO-protein ligase ZNF451
Q9Y4E5	1023	1046	63	1061	Alternative sequence	ID=VSP_035312;Note=In isoform 3. ENIKRKDHIDYQKDKVALTLARLARHVEVEKQQKEEKNRAFREKIDFQHAHGLQELEFIRGHSDTEAARLCVDQWLKMPGLKTGTINCGTKSSFRRGGHTWVSGKPILCPIMHCNKEFDNGHLLLGHLKRFDHSPCDPTITLHGPFFSSFACVVCYKKFVTQQQYRDHLFDKEATDDGHNNNLLPQIIQCFACPNCFLLFSRKEECSKHMSGKNHFHQSFKL
Q9Y4E5	1023	1046	1	1061	Chain	ID=PRO_0000047598;Note=E3 SUMO-protein ligase ZNF451

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
Q9Y4E5	7	35	32	40	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D2M
Q9Y4E5	7	35	1	1061	Chain	ID=PRO_0000047598;Note=E3 SUMO-protein ligase ZNF451
Q9Y4E5	7	35	31	34	Mutagenesis	Note=Nearly abolishes E3 SUMO-protein ligase activity (in vitro). IQFV->AQAA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26524493;Dbxref=PMID:26524493
Q9Y4E5	7	35	1	344	Region	Note=Important for interaction with SUMO1 and SUMO2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18656483;Dbxref=PMID:18656483
Q9Y4E5	7	35	1	246	Region	Note=Sufficient for E3 SUMO-protein ligase activity;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26524493;Dbxref=PMID:26524493
Q9Y4E5	7	35	30	37	Region	Note=Interaction with SUMO2 1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26524494;Dbxref=PMID:26524494
Q9Y4E5	62	104	63	1061	Alternative sequence	ID=VSP_035312;Note=In isoform 3. ENIKRKDHIDYQKDKVALTLARLARHVEVEKQQKEEKNRAFREKIDFQHAHGLQELEFIRGHSDTEAARLCVDQWLKMPGLKTGTINCGTKSSFRRGGHTWVSGKPILCPIMHCNKEFDNGHLLLGHLKRFDHSPCDPTITLHGPFFSSFACVVCYKKFVTQQQYRDHLFDKEATDDGHNNNLLPQIIQCFACPNCFLLFSRKEECSKHMSGKNHFHQSFKL
Q9Y4E5	62	104	1	1061	Chain	ID=PRO_0000047598;Note=E3 SUMO-protein ligase ZNF451
Q9Y4E5	62	104	75	75	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
Q9Y4E5	62	104	77	77	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25218447,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733
Q9Y4E5	62	104	1	344	Region	Note=Important for interaction with SUMO1 and SUMO2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18656483;Dbxref=PMID:18656483
Q9Y4E5	62	104	1	246	Region	Note=Sufficient for E3 SUMO-protein ligase activity;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26524493;Dbxref=PMID:26524493
Q9Y4E5	869	917	63	1061	Alternative sequence	ID=VSP_035312;Note=In isoform 3. ENIKRKDHIDYQKDKVALTLARLARHVEVEKQQKEEKNRAFREKIDFQHAHGLQELEFIRGHSDTEAARLCVDQWLKMPGLKTGTINCGTKSSFRRGGHTWVSGKPILCPIMHCNKEFDNGHLLLGHLKRFDHSPCDPTITLHGPFFSSFACVVCYKKFVTQQQYRDHLFDKEATDDGHNNNLLPQIIQCFACPNCFLLFSRKEECSKHMSGKNHFHQSFKL
Q9Y4E5	869	917	870	917	Alternative sequence	ID=VSP_008624;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.1
Q9Y4E5	869	917	1	1061	Chain	ID=PRO_0000047598;Note=E3 SUMO-protein ligase ZNF451
Q9Y4E5	1023	1046	63	1061	Alternative sequence	ID=VSP_035312;Note=In isoform 3. ENIKRKDHIDYQKDKVALTLARLARHVEVEKQQKEEKNRAFREKIDFQHAHGLQELEFIRGHSDTEAARLCVDQWLKMPGLKTGTINCGTKSSFRRGGHTWVSGKPILCPIMHCNKEFDNGHLLLGHLKRFDHSPCDPTITLHGPFFSSFACVVCYKKFVTQQQYRDHLFDKEATDDGHNNNLLPQIIQCFACPNCFLLFSRKEECSKHMSGKNHFHQSFKL
Q9Y4E5	1023	1046	1	1061	Chain	ID=PRO_0000047598;Note=E3 SUMO-protein ligase ZNF451

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SNVs in the skipped exons for ZNF451

- 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.

ZNF451_ESCA_exon_skip_452826_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-G3-A3CJ-01	exon_skip_452807	56997840	56997990	56997871	56997871	Frame_Shift_Del	A	-	p.T152fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_452807	56997840	56997990	56997921	56997921	Frame_Shift_Del	T	-	p.I169fs
LIHC	TCGA-DD-A1EG-01	exon_skip_452812	57015517	57015660	57015523	57015523	Frame_Shift_Del	A	-	p.E872fs
LUAD	TCGA-17-Z022-01	exon_skip_452812	57015517	57015660	57015568	57015571	Frame_Shift_Del	ATAT	-	p.HI887fs
LIHC	TCGA-DD-A3A0-01	exon_skip_452812	57015517	57015660	57015603	57015603	Frame_Shift_Del	T	-	p.F900fs
LIHC	TCGA-DD-A39Y-01	exon_skip_452822	57017019	57017149	57017131	57017131	Frame_Shift_Del	T	-	p.D955fs
STAD	TCGA-BR-8361-01	exon_skip_452812	57015517	57015660	57015648	57015649	Frame_Shift_Ins	-	G	p.W914fs
STAD	TCGA-BR-8361-01	exon_skip_452812	57015517	57015660	57015649	57015650	Frame_Shift_Ins	-	G	p.W914fs
LUAD	TCGA-78-7535-01	exon_skip_452801	56989532	56989657	56989634	56989634	Nonsense_Mutation	G	T	p.E97*
HNSC	TCGA-CV-5434-01	exon_skip_452807	56997840	56997990	56997884	56997884	Nonsense_Mutation	C	T	p.R157*
ESCA	TCGA-LN-A49U-01	exon_skip_452826	57018659	57018845	57018677	57018677	Nonsense_Mutation	C	T	p.Q968*
ESCA	TCGA-LN-A49U-01	exon_skip_452826	57018659	57018845	57018677	57018677	Nonsense_Mutation	C	T	p.Q968X

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-LN-A49U-01
	Cancer type: ESCA
	ESID: exon_skip_452826
	Skipped exon start: 57018659
	Skipped exon end: 57018845
	Mutation start: 57018677
	Mutation end: 57018677
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.Q968X
	Sample: TCGA-LN-A49U-01
	Cancer type: ESCA
	ESID: exon_skip_452826
	Skipped exon start: 57018659
	Skipped exon end: 57018845
	Mutation start: 57018677
	Mutation end: 57018677
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.Q968*
exon_skip_339155_ESCA_TCGA-LN-A49U-01.png
exon_skip_40536_ESCA_TCGA-LN-A49U-01.png
exon_skip_452826_ESCA_TCGA-LN-A49U-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
KNS62_LUNG	56989532	56989657	56989572	56989572	Missense_Mutation	A	T	p.D76V
NO10_CENTRAL_NERVOUS_SYSTEM	56989532	56989657	56989628	56989628	Missense_Mutation	C	A	p.Q95K
HCC2998_LARGE_INTESTINE	56993527	56993638	56993605	56993605	Missense_Mutation	A	G	p.R131G
DV90_LUNG	56997840	56997990	56997885	56997885	Missense_Mutation	G	A	p.R157Q
SNU1040_LARGE_INTESTINE	56997840	56997990	56997899	56997899	Missense_Mutation	A	G	p.T162A
SNU1040_LARGE_INTESTINE	56997840	56997990	56997930	56997930	Missense_Mutation	C	A	p.P172H
SLR24_KIDNEY	56997840	56997990	56997947	56997947	Missense_Mutation	A	G	p.K178E
GP2D_LARGE_INTESTINE	56997840	56997990	56997963	56997963	Missense_Mutation	G	T	p.G183V
GP5D_LARGE_INTESTINE	56997840	56997990	56997963	56997963	Missense_Mutation	G	T	p.G183V
SNU81_LARGE_INTESTINE	57015517	57015660	57015556	57015556	Missense_Mutation	G	A	p.R883Q
LN443_CENTRAL_NERVOUS_SYSTEM	57015517	57015660	57015556	57015556	Missense_Mutation	G	A	p.R883Q
SNU175_LARGE_INTESTINE	57015517	57015660	57015565	57015565	Missense_Mutation	C	T	p.T886I
CCK81_LARGE_INTESTINE	57017019	57017149	57017043	57017043	Missense_Mutation	C	T	p.P926L
NCIH1793_LUNG	57017019	57017149	57017102	57017102	Missense_Mutation	C	T	p.R946C
IMR5_AUTONOMIC_GANGLIA	57018659	57018845	57018663	57018663	Missense_Mutation	G	T	p.G963V
IMR32_AUTONOMIC_GANGLIA	57018659	57018845	57018663	57018663	Missense_Mutation	G	T	p.G963V
NCIH1734_LUNG	57018659	57018845	57018665	57018665	Missense_Mutation	C	T	p.R964C
SW48_LARGE_INTESTINE	57018659	57018845	57018783	57018783	Missense_Mutation	C	T	p.P1003L
ECGI10_OESOPHAGUS	57018659	57018845	57018796	57018796	Missense_Mutation	G	C	p.E1007D
U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56989532	56989657	56989613	56989613	Nonsense_Mutation	G	T	p.E90*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZNF451

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 ZNF451

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZNF451

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RelatedDrugs for ZNF451

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 ZNF451

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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