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	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

Gene summary for PIH1D1

Gene summary

Gene information	Gene symbol	PIH1D1
	Gene ID	55011
	Gene name	PIH1 domain containing 1
	Synonyms	NOP17
	Cytomap	19q13.33
	Type of gene	protein-coding
	Description	PIH1 domain-containing protein 1nucleolar protein 17 homolog
	Modification date	20180523
	UniProtAcc	Q9NWS0
	Context	PubMed: PIH1D1 [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
PIH1D1	GO:0031334	positive regulation of protein complex assembly	24036451

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Exon skipping events across known transcript of Ensembl for PIH1D1 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 PIH1D1

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 PIH1D1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_320687	19	49949657:49949680:49949807:49949852:49950280:49950302	49949807:49949852	ENSG00000104872.6	ENST00000600875.1,ENST00000598175.1
exon_skip_320688	19	49949657:49949680:49949807:49949951:49950280:49950302	49949807:49949951	ENSG00000104872.6	ENST00000596916.1,ENST00000601807.1,ENST00000596651.1,ENST00000262265.5,ENST00000596049.1,ENST00000593629.1,ENST00000598889.1,ENST00000594845.1
exon_skip_320689	19	49949657:49949680:49949807:49950001:49950280:49950302	49949807:49950001	ENSG00000104872.6	ENST00000602226.1
exon_skip_320690	19	49949657:49949680:49949807:49950051:49950280:49950302	49949807:49950051	ENSG00000104872.6	ENST00000597577.1
exon_skip_320696	19	49950280:49950356:49950594:49950674:49951083:49951165	49950594:49950674	ENSG00000104872.6	ENST00000598889.1,ENST00000598175.1
exon_skip_320697	19	49950280:49950356:49950594:49950677:49951083:49951165	49950594:49950677	ENSG00000104872.6	ENST00000596651.1,ENST00000593629.1
exon_skip_320698	19	49950280:49950356:49950594:49950724:49951083:49951165	49950594:49950724	ENSG00000104872.6	ENST00000600875.1,ENST00000596916.1,ENST00000597577.1,ENST00000601807.1,ENST00000262265.5,ENST00000596049.1,ENST00000601053.1
exon_skip_320700	19	49950594:49950674:49951083:49951165:49951257:49951267	49951083:49951165	ENSG00000104872.6	ENST00000598889.1,ENST00000598175.1
exon_skip_320704	19	49951083:49951165:49951257:49951319:49952731:49952777	49951257:49951319	ENSG00000104872.6	ENST00000597415.1,ENST00000600875.1,ENST00000601807.1,ENST00000596651.1,ENST00000262265.5,ENST00000596049.1,ENST00000593900.1,ENST00000598889.1,ENST00000595516.1
exon_skip_320714	19	49951257:49951319:49952596:49952911:49954038:49954093	49952596:49952911	ENSG00000104872.6	ENST00000599366.1
exon_skip_320715	19	49951261:49951319:49952731:49952911:49954038:49954093	49952731:49952911	ENSG00000104872.6	ENST00000597415.1,ENST00000601807.1,ENST00000262265.5,ENST00000596049.1,ENST00000593900.1,ENST00000595516.1
exon_skip_320721	19	49952822:49952911:49954038:49954105:49954741:49954787	49954038:49954105	ENSG00000104872.6	ENST00000599366.1,ENST00000601825.1,ENST00000262265.5,ENST00000596049.1,ENST00000601053.1,ENST00000595074.1,ENST00000595516.1
exon_skip_320724	19	49952822:49952911:49954038:49954196:49954741:49954787	49954038:49954196	ENSG00000104872.6	ENST00000599791.1,ENST00000593900.1
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENSG00000104872.6	ENST00000597415.1
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENSG00000104872.6	ENST00000599366.1
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENSG00000104872.6	ENST00000596049.1
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENSG00000104872.6	ENST00000601825.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PIH1D1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_320687	19	49949657:49949680:49949807:49949852:49950280:49950302	49949807:49949852	ENSG00000104872.6	ENST00000598175.1,ENST00000600875.1
exon_skip_320688	19	49949657:49949680:49949807:49949951:49950280:49950302	49949807:49949951	ENSG00000104872.6	ENST00000596916.1,ENST00000594845.1,ENST00000593629.1,ENST00000598889.1,ENST00000596651.1,ENST00000262265.5,ENST00000596049.1,ENST00000601807.1
exon_skip_320689	19	49949657:49949680:49949807:49950001:49950280:49950302	49949807:49950001	ENSG00000104872.6	ENST00000602226.1
exon_skip_320690	19	49949657:49949680:49949807:49950051:49950280:49950302	49949807:49950051	ENSG00000104872.6	ENST00000597577.1
exon_skip_320696	19	49950280:49950356:49950594:49950674:49951083:49951165	49950594:49950674	ENSG00000104872.6	ENST00000598175.1,ENST00000598889.1
exon_skip_320697	19	49950280:49950356:49950594:49950677:49951083:49951165	49950594:49950677	ENSG00000104872.6	ENST00000593629.1,ENST00000596651.1
exon_skip_320698	19	49950280:49950356:49950594:49950724:49951083:49951165	49950594:49950724	ENSG00000104872.6	ENST00000596916.1,ENST00000597577.1,ENST00000600875.1,ENST00000262265.5,ENST00000596049.1,ENST00000601807.1,ENST00000601053.1
exon_skip_320700	19	49950594:49950674:49951083:49951165:49951257:49951267	49951083:49951165	ENSG00000104872.6	ENST00000598175.1,ENST00000598889.1
exon_skip_320704	19	49951083:49951165:49951257:49951319:49952731:49952777	49951257:49951319	ENSG00000104872.6	ENST00000598889.1,ENST00000600875.1,ENST00000596651.1,ENST00000262265.5,ENST00000596049.1,ENST00000601807.1,ENST00000595516.1,ENST00000597415.1,ENST00000593900.1
exon_skip_320714	19	49951257:49951319:49952596:49952911:49954038:49954093	49952596:49952911	ENSG00000104872.6	ENST00000599366.1
exon_skip_320715	19	49951261:49951319:49952731:49952911:49954038:49954093	49952731:49952911	ENSG00000104872.6	ENST00000262265.5,ENST00000596049.1,ENST00000601807.1,ENST00000595516.1,ENST00000597415.1,ENST00000593900.1
exon_skip_320721	19	49952822:49952911:49954038:49954105:49954741:49954787	49954038:49954105	ENSG00000104872.6	ENST00000262265.5,ENST00000596049.1,ENST00000601053.1,ENST00000595516.1,ENST00000599366.1,ENST00000595074.1,ENST00000601825.1
exon_skip_320724	19	49952822:49952911:49954038:49954196:49954741:49954787	49954038:49954196	ENSG00000104872.6	ENST00000593900.1,ENST00000599791.1
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENSG00000104872.6	ENST00000597415.1
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENSG00000104872.6	ENST00000599366.1
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENSG00000104872.6	ENST00000596049.1
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENSG00000104872.6	ENST00000601825.1

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 PIH1D1

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
ENST00000596049	49954741	49954835	3UTR-3CDS
ENST00000262265	49950594	49950724	Frame-shift
ENST00000596049	49950594	49950724	Frame-shift
ENST00000262265	49951257	49951319	Frame-shift
ENST00000596049	49951257	49951319	Frame-shift
ENST00000262265	49954038	49954105	Frame-shift
ENST00000596049	49954038	49954105	Frame-shift
ENST00000262265	49949807	49949951	In-frame
ENST00000596049	49949807	49949951	In-frame
ENST00000262265	49952731	49952911	In-frame
ENST00000596049	49952731	49952911	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
ENST00000596049	49954741	49954835	3UTR-3CDS
ENST00000262265	49950594	49950724	Frame-shift
ENST00000596049	49950594	49950724	Frame-shift
ENST00000262265	49951257	49951319	Frame-shift
ENST00000596049	49951257	49951319	Frame-shift
ENST00000262265	49954038	49954105	Frame-shift
ENST00000596049	49954038	49954105	Frame-shift
ENST00000262265	49949807	49949951	In-frame
ENST00000596049	49949807	49949951	In-frame
ENST00000262265	49952731	49952911	In-frame
ENST00000596049	49952731	49952911	In-frame

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Infer the effects of exon skipping event on protein functional features for PIH1D1

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
ENST00000262265	1209	290	49952731	49952911	394	573	52	112
ENST00000596049	1009	290	49952731	49952911	264	443	52	112
ENST00000262265	1209	290	49949807	49949951	924	1067	229	277
ENST00000596049	1009	290	49949807	49949951	794	937	229	277

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
ENST00000262265	1209	290	49952731	49952911	394	573	52	112
ENST00000596049	1009	290	49952731	49952911	264	443	52	112
ENST00000262265	1209	290	49949807	49949951	924	1067	229	277
ENST00000596049	1009	290	49949807	49949951	794	937	229	277

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
Q9NWS0	52	112	31	290	Alternative sequence	ID=VSP_044424;Note=In isoform 2. ASKELQQAQTTRPESTQIQPQPGFCIKTNSSEGKVFINICHSPSIPPPADVTEEELLQMLEEDQAGFRIPMSLGEPHAELDAKGQGCTAYDVAVNSDFYRRMQNSDFLRELVITIAREGLEDKYNLQLNPEWRMMKNRPFMGSISQQNIRSEQRPRIQELGDLYTPAPGRAESGPEKPHLNLWLEAPDLLLAEVDLPKLDGALGLSLEIGENRLVMGGPQQL
Q9NWS0	52	112	31	290	Alternative sequence	ID=VSP_044424;Note=In isoform 2. ASKELQQAQTTRPESTQIQPQPGFCIKTNSSEGKVFINICHSPSIPPPADVTEEELLQMLEEDQAGFRIPMSLGEPHAELDAKGQGCTAYDVAVNSDFYRRMQNSDFLRELVITIAREGLEDKYNLQLNPEWRMMKNRPFMGSISQQNIRSEQRPRIQELGDLYTPAPGRAESGPEKPHLNLWLEAPDLLLAEVDLPKLDGALGLSLEIGENRLVMGGPQQL
Q9NWS0	52	112	51	59	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	51	59	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	61	72	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	61	72	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	99	101	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	99	101	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	107	110	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	107	110	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	1	290	Chain	ID=PRO_0000307328;Note=PIH1 domain-containing protein 1
Q9NWS0	52	112	1	290	Chain	ID=PRO_0000307328;Note=PIH1 domain-containing protein 1
Q9NWS0	52	112	83	92	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	83	92	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	54	54	Mutagenesis	Note=Abolishes binding to histone H4. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22368283;Dbxref=PMID:22368283
Q9NWS0	52	112	54	54	Mutagenesis	Note=Abolishes binding to histone H4. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22368283;Dbxref=PMID:22368283
Q9NWS0	52	112	55	55	Mutagenesis	Note=No effect on binding to histone H4. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22368283;Dbxref=PMID:22368283
Q9NWS0	52	112	55	55	Mutagenesis	Note=No effect on binding to histone H4. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22368283;Dbxref=PMID:22368283
Q9NWS0	52	112	57	57	Mutagenesis	Note=Abolishes binding to TELO2. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24656813;Dbxref=PMID:24656813
Q9NWS0	52	112	57	57	Mutagenesis	Note=Abolishes binding to TELO2. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24656813;Dbxref=PMID:24656813
Q9NWS0	52	112	64	64	Mutagenesis	Note=Abolishes binding to ECD%2C EFTUD2%2C RPB1%2C TELO2 and UBR5. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24656813;Dbxref=PMID:24656813
Q9NWS0	52	112	64	64	Mutagenesis	Note=Abolishes binding to ECD%2C EFTUD2%2C RPB1%2C TELO2 and UBR5. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24656813;Dbxref=PMID:24656813
Q9NWS0	52	112	102	102	Sequence conflict	Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NWS0	52	112	102	102	Sequence conflict	Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NWS0	52	112	57	57	Site	Note=Interacts with TELO2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24656813;Dbxref=PMID:24656813
Q9NWS0	52	112	57	57	Site	Note=Interacts with TELO2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24656813;Dbxref=PMID:24656813
Q9NWS0	52	112	64	64	Site	Note=Interacts with TELO2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24656813;Dbxref=PMID:24656813
Q9NWS0	52	112	64	64	Site	Note=Interacts with TELO2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24656813;Dbxref=PMID:24656813
Q9NWS0	229	277	31	290	Alternative sequence	ID=VSP_044424;Note=In isoform 2. ASKELQQAQTTRPESTQIQPQPGFCIKTNSSEGKVFINICHSPSIPPPADVTEEELLQMLEEDQAGFRIPMSLGEPHAELDAKGQGCTAYDVAVNSDFYRRMQNSDFLRELVITIAREGLEDKYNLQLNPEWRMMKNRPFMGSISQQNIRSEQRPRIQELGDLYTPAPGRAESGPEKPHLNLWLEAPDLLLAEVDLPKLDGALGLSLEIGENRLVMGGPQQL
Q9NWS0	229	277	31	290	Alternative sequence	ID=VSP_044424;Note=In isoform 2. ASKELQQAQTTRPESTQIQPQPGFCIKTNSSEGKVFINICHSPSIPPPADVTEEELLQMLEEDQAGFRIPMSLGEPHAELDAKGQGCTAYDVAVNSDFYRRMQNSDFLRELVITIAREGLEDKYNLQLNPEWRMMKNRPFMGSISQQNIRSEQRPRIQELGDLYTPAPGRAESGPEKPHLNLWLEAPDLLLAEVDLPKLDGALGLSLEIGENRLVMGGPQQL
Q9NWS0	229	277	113	290	Alternative sequence	ID=VSP_044425;Note=In isoform 3. KGQGCTAYDVAVNSDFYRRMQNSDFLRELVITIAREGLEDKYNLQLNPEWRMMKNRPFMGSISQQNIRSEQRPRIQELGDLYTPAPGRAESGPEKPHLNLWLEAPDLLLAEVDLPKLDGALGLSLEIGENRLVMGGPQQLYHLDAYIPLQINSHESKAAFHRKRKQLMVAMPLLPVPS->SQCPQRTQESGPLGPFFPRTQESWAQDPPPSAPGDLAPRSDS
Q9NWS0	229	277	113	290	Alternative sequence	ID=VSP_044425;Note=In isoform 3. KGQGCTAYDVAVNSDFYRRMQNSDFLRELVITIAREGLEDKYNLQLNPEWRMMKNRPFMGSISQQNIRSEQRPRIQELGDLYTPAPGRAESGPEKPHLNLWLEAPDLLLAEVDLPKLDGALGLSLEIGENRLVMGGPQQLYHLDAYIPLQINSHESKAAFHRKRKQLMVAMPLLPVPS->SQCPQRTQESGPLGPFFPRTQESWAQDPPPSAPGDLAPRSDS
Q9NWS0	229	277	1	290	Chain	ID=PRO_0000307328;Note=PIH1 domain-containing protein 1
Q9NWS0	229	277	1	290	Chain	ID=PRO_0000307328;Note=PIH1 domain-containing protein 1
Q9NWS0	229	277	230	230	Natural variant	ID=VAR_035413;Note=D->E;Dbxref=dbSNP:rs34198213
Q9NWS0	229	277	230	230	Natural variant	ID=VAR_035413;Note=D->E;Dbxref=dbSNP:rs34198213

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
Q9NWS0	52	112	31	290	Alternative sequence	ID=VSP_044424;Note=In isoform 2. ASKELQQAQTTRPESTQIQPQPGFCIKTNSSEGKVFINICHSPSIPPPADVTEEELLQMLEEDQAGFRIPMSLGEPHAELDAKGQGCTAYDVAVNSDFYRRMQNSDFLRELVITIAREGLEDKYNLQLNPEWRMMKNRPFMGSISQQNIRSEQRPRIQELGDLYTPAPGRAESGPEKPHLNLWLEAPDLLLAEVDLPKLDGALGLSLEIGENRLVMGGPQQL
Q9NWS0	52	112	31	290	Alternative sequence	ID=VSP_044424;Note=In isoform 2. ASKELQQAQTTRPESTQIQPQPGFCIKTNSSEGKVFINICHSPSIPPPADVTEEELLQMLEEDQAGFRIPMSLGEPHAELDAKGQGCTAYDVAVNSDFYRRMQNSDFLRELVITIAREGLEDKYNLQLNPEWRMMKNRPFMGSISQQNIRSEQRPRIQELGDLYTPAPGRAESGPEKPHLNLWLEAPDLLLAEVDLPKLDGALGLSLEIGENRLVMGGPQQL
Q9NWS0	52	112	51	59	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	51	59	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	61	72	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	61	72	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	99	101	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	99	101	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	107	110	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	107	110	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	1	290	Chain	ID=PRO_0000307328;Note=PIH1 domain-containing protein 1
Q9NWS0	52	112	1	290	Chain	ID=PRO_0000307328;Note=PIH1 domain-containing protein 1
Q9NWS0	52	112	83	92	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	83	92	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PSF
Q9NWS0	52	112	54	54	Mutagenesis	Note=Abolishes binding to histone H4. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22368283;Dbxref=PMID:22368283
Q9NWS0	52	112	54	54	Mutagenesis	Note=Abolishes binding to histone H4. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22368283;Dbxref=PMID:22368283
Q9NWS0	52	112	55	55	Mutagenesis	Note=No effect on binding to histone H4. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22368283;Dbxref=PMID:22368283
Q9NWS0	52	112	55	55	Mutagenesis	Note=No effect on binding to histone H4. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22368283;Dbxref=PMID:22368283
Q9NWS0	52	112	57	57	Mutagenesis	Note=Abolishes binding to TELO2. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24656813;Dbxref=PMID:24656813
Q9NWS0	52	112	57	57	Mutagenesis	Note=Abolishes binding to TELO2. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24656813;Dbxref=PMID:24656813
Q9NWS0	52	112	64	64	Mutagenesis	Note=Abolishes binding to ECD%2C EFTUD2%2C RPB1%2C TELO2 and UBR5. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24656813;Dbxref=PMID:24656813
Q9NWS0	52	112	64	64	Mutagenesis	Note=Abolishes binding to ECD%2C EFTUD2%2C RPB1%2C TELO2 and UBR5. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24656813;Dbxref=PMID:24656813
Q9NWS0	52	112	102	102	Sequence conflict	Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NWS0	52	112	102	102	Sequence conflict	Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NWS0	52	112	57	57	Site	Note=Interacts with TELO2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24656813;Dbxref=PMID:24656813
Q9NWS0	52	112	57	57	Site	Note=Interacts with TELO2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24656813;Dbxref=PMID:24656813
Q9NWS0	52	112	64	64	Site	Note=Interacts with TELO2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24656813;Dbxref=PMID:24656813
Q9NWS0	52	112	64	64	Site	Note=Interacts with TELO2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24656813;Dbxref=PMID:24656813
Q9NWS0	229	277	31	290	Alternative sequence	ID=VSP_044424;Note=In isoform 2. ASKELQQAQTTRPESTQIQPQPGFCIKTNSSEGKVFINICHSPSIPPPADVTEEELLQMLEEDQAGFRIPMSLGEPHAELDAKGQGCTAYDVAVNSDFYRRMQNSDFLRELVITIAREGLEDKYNLQLNPEWRMMKNRPFMGSISQQNIRSEQRPRIQELGDLYTPAPGRAESGPEKPHLNLWLEAPDLLLAEVDLPKLDGALGLSLEIGENRLVMGGPQQL
Q9NWS0	229	277	31	290	Alternative sequence	ID=VSP_044424;Note=In isoform 2. ASKELQQAQTTRPESTQIQPQPGFCIKTNSSEGKVFINICHSPSIPPPADVTEEELLQMLEEDQAGFRIPMSLGEPHAELDAKGQGCTAYDVAVNSDFYRRMQNSDFLRELVITIAREGLEDKYNLQLNPEWRMMKNRPFMGSISQQNIRSEQRPRIQELGDLYTPAPGRAESGPEKPHLNLWLEAPDLLLAEVDLPKLDGALGLSLEIGENRLVMGGPQQL
Q9NWS0	229	277	113	290	Alternative sequence	ID=VSP_044425;Note=In isoform 3. KGQGCTAYDVAVNSDFYRRMQNSDFLRELVITIAREGLEDKYNLQLNPEWRMMKNRPFMGSISQQNIRSEQRPRIQELGDLYTPAPGRAESGPEKPHLNLWLEAPDLLLAEVDLPKLDGALGLSLEIGENRLVMGGPQQLYHLDAYIPLQINSHESKAAFHRKRKQLMVAMPLLPVPS->SQCPQRTQESGPLGPFFPRTQESWAQDPPPSAPGDLAPRSDS
Q9NWS0	229	277	113	290	Alternative sequence	ID=VSP_044425;Note=In isoform 3. KGQGCTAYDVAVNSDFYRRMQNSDFLRELVITIAREGLEDKYNLQLNPEWRMMKNRPFMGSISQQNIRSEQRPRIQELGDLYTPAPGRAESGPEKPHLNLWLEAPDLLLAEVDLPKLDGALGLSLEIGENRLVMGGPQQLYHLDAYIPLQINSHESKAAFHRKRKQLMVAMPLLPVPS->SQCPQRTQESGPLGPFFPRTQESWAQDPPPSAPGDLAPRSDS
Q9NWS0	229	277	1	290	Chain	ID=PRO_0000307328;Note=PIH1 domain-containing protein 1
Q9NWS0	229	277	1	290	Chain	ID=PRO_0000307328;Note=PIH1 domain-containing protein 1
Q9NWS0	229	277	230	230	Natural variant	ID=VAR_035413;Note=D->E;Dbxref=dbSNP:rs34198213
Q9NWS0	229	277	230	230	Natural variant	ID=VAR_035413;Note=D->E;Dbxref=dbSNP:rs34198213

Top

SNVs in the skipped exons for PIH1D1

- 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.

PIH1D1_HNSC_exon_skip_320715_psi_boxplot.png

PIH1D1_LIHC_exon_skip_320715_psi_boxplot.png

PIH1D1_STAD_exon_skip_320688_psi_boxplot.png

- 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
STAD	TCGA-HU-A4H3-01	exon_skip_320688	49949808	49949951	49949891	49949891	Frame_Shift_Del	G	-	p.Q250fs
STAD	TCGA-HU-A4H3-01	exon_skip_320689	49949808	49950001	49949891	49949891	Frame_Shift_Del	G	-	p.Q250fs
STAD	TCGA-HU-A4H3-01	exon_skip_320690	49949808	49950051	49949891	49949891	Frame_Shift_Del	G	-	p.Q250fs
STAD	TCGA-VQ-A8P2-01	exon_skip_320688	49949808	49949951	49949891	49949891	Frame_Shift_Del	G	-	p.Q250fs
STAD	TCGA-VQ-A8P2-01	exon_skip_320688	49949808	49949951	49949891	49949891	Frame_Shift_Del	G	-	p.Q251fs
STAD	TCGA-VQ-A8P2-01	exon_skip_320689	49949808	49950001	49949891	49949891	Frame_Shift_Del	G	-	p.Q250fs
STAD	TCGA-VQ-A8P2-01	exon_skip_320689	49949808	49950001	49949891	49949891	Frame_Shift_Del	G	-	p.Q251fs
STAD	TCGA-VQ-A8P2-01	exon_skip_320690	49949808	49950051	49949891	49949891	Frame_Shift_Del	G	-	p.Q250fs
STAD	TCGA-VQ-A8P2-01	exon_skip_320690	49949808	49950051	49949891	49949891	Frame_Shift_Del	G	-	p.Q251fs
LIHC	TCGA-DD-A3A0-01	exon_skip_320700	49951084	49951165	49951147	49951147	Frame_Shift_Del	C	-	p.E140fs
LIHC	TCGA-DD-A39Y-01	exon_skip_320714	49952597	49952911	49952872	49952872	Frame_Shift_Del	A	-	p.F66fs
LIHC	TCGA-DD-A39Y-01	exon_skip_320715	49952732	49952911	49952872	49952872	Frame_Shift_Del	A	-	p.F66fs
STAD	TCGA-BR-4201-01	exon_skip_320696	49950595	49950674	49950611	49950612	Frame_Shift_Ins	-	G	p.G199fs
STAD	TCGA-BR-4201-01	exon_skip_320697	49950595	49950677	49950611	49950612	Frame_Shift_Ins	-	G	p.G199fs
STAD	TCGA-BR-4201-01	exon_skip_320698	49950595	49950724	49950611	49950612	Frame_Shift_Ins	-	G	p.G199fs
SKCM	TCGA-ER-A198-06	exon_skip_320696	49950595	49950674	49950644	49950644	Nonsense_Mutation	G	A	p.Q188*
SKCM	TCGA-ER-A198-06	exon_skip_320696	49950595	49950674	49950644	49950644	Nonsense_Mutation	G	A	p.Q188X
SKCM	TCGA-ER-A198-06	exon_skip_320697	49950595	49950677	49950644	49950644	Nonsense_Mutation	G	A	p.Q188*
SKCM	TCGA-ER-A198-06	exon_skip_320697	49950595	49950677	49950644	49950644	Nonsense_Mutation	G	A	p.Q188X
SKCM	TCGA-ER-A198-06	exon_skip_320698	49950595	49950724	49950644	49950644	Nonsense_Mutation	G	A	p.Q188*
SKCM	TCGA-ER-A198-06	exon_skip_320698	49950595	49950724	49950644	49950644	Nonsense_Mutation	G	A	p.Q188X
LUSC	TCGA-37-5819-01	exon_skip_320698	49950595	49950724	49950682	49950682	Nonsense_Mutation	G	T	p.S175*
BLCA	TCGA-E7-A6MF-01	exon_skip_320714	49952597	49952911	49952744	49952744	Nonsense_Mutation	C	A	p.E109*
BLCA	TCGA-E7-A6MF-01	exon_skip_320715	49952732	49952911	49952744	49952744	Nonsense_Mutation	C	A	p.E109*
HNSC	TCGA-KU-A66T-01	exon_skip_320714	49952597	49952911	49952900	49952900	Nonsense_Mutation	T	A	p.K57*
HNSC	TCGA-KU-A66T-01	exon_skip_320715	49952732	49952911	49952900	49952900	Nonsense_Mutation	T	A	p.K57*
LGG	TCGA-CS-6290-01	exon_skip_320732	49954625	49954835	49954795	49954795	Nonsense_Mutation	C	A	p.E13*
LGG	TCGA-CS-6290-01	exon_skip_320732	49954625	49954835	49954795	49954795	Nonsense_Mutation	C	A	p.E13X
LGG	TCGA-CS-6290-01	exon_skip_320738 exon_skip_320739	49954742	49954835	49954795	49954795	Nonsense_Mutation	C	A	p.E13*
LGG	TCGA-CS-6290-01	exon_skip_320738 exon_skip_320739	49954742	49954835	49954795	49954795	Nonsense_Mutation	C	A	p.E13X
LGG	TCGA-CS-6290-01	exon_skip_320741	49954742	49954848	49954795	49954795	Nonsense_Mutation	C	A	p.E13*
LGG	TCGA-CS-6290-01	exon_skip_320741	49954742	49954848	49954795	49954795	Nonsense_Mutation	C	A	p.E13X

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-KU-A66T-01
	Cancer type: HNSC
	ESID: exon_skip_320714
	Skipped exon start: 49952597
	Skipped exon end: 49952911
	Mutation start: 49952900
	Mutation end: 49952900
	Mutation type: Nonsense_Mutation
	Reference seq: T
	Mutation seq: A
	AAchange: p.K57*
	Sample: TCGA-KU-A66T-01
	Cancer type: HNSC
	ESID: exon_skip_320715
	Skipped exon start: 49952732
	Skipped exon end: 49952911
	Mutation start: 49952900
	Mutation end: 49952900
	Mutation type: Nonsense_Mutation
	Reference seq: T
	Mutation seq: A
	AAchange: p.K57*
exon_skip_320714_HNSC_TCGA-KU-A66T-01.png
exon_skip_320715_HNSC_TCGA-KU-A66T-01.png
exon_skip_371037_HNSC_TCGA-KU-A66T-01.png
exon_skip_372024_HNSC_TCGA-KU-A66T-01.png
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_320714
	Skipped exon start: 49952597
	Skipped exon end: 49952911
	Mutation start: 49952872
	Mutation end: 49952872
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.F66fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_320715
	Skipped exon start: 49952732
	Skipped exon end: 49952911
	Mutation start: 49952872
	Mutation end: 49952872
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.F66fs
exon_skip_105023_LIHC_TCGA-DD-A39Y-01.png
exon_skip_101824_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106032_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106378_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106523_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106524_LIHC_TCGA-DD-A39Y-01.png
exon_skip_109527_LIHC_TCGA-DD-A39Y-01.png
exon_skip_109529_LIHC_TCGA-DD-A39Y-01.png
exon_skip_110000_LIHC_TCGA-DD-A39Y-01.png
exon_skip_11029_LIHC_TCGA-DD-A39Y-01.png
exon_skip_111893_LIHC_TCGA-DD-A39Y-01.png
exon_skip_111894_LIHC_TCGA-DD-A39Y-01.png
exon_skip_112042_LIHC_TCGA-DD-A39Y-01.png
exon_skip_112647_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114045_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114046_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114565_LIHC_TCGA-DD-A39Y-01.png
exon_skip_11916_LIHC_TCGA-DD-A39Y-01.png
exon_skip_1234_LIHC_TCGA-DD-A39Y-01.png
exon_skip_1237_LIHC_TCGA-DD-A39Y-01.png
exon_skip_124639_LIHC_TCGA-DD-A39Y-01.png
exon_skip_124693_LIHC_TCGA-DD-A39Y-01.png
exon_skip_124695_LIHC_TCGA-DD-A39Y-01.png
exon_skip_130535_LIHC_TCGA-DD-A39Y-01.png
exon_skip_13071_LIHC_TCGA-DD-A39Y-01.png
exon_skip_131505_LIHC_TCGA-DD-A39Y-01.png
exon_skip_133556_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135211_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135545_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135553_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135763_LIHC_TCGA-DD-A39Y-01.png
exon_skip_137564_LIHC_TCGA-DD-A39Y-01.png
exon_skip_138947_LIHC_TCGA-DD-A39Y-01.png
exon_skip_139222_LIHC_TCGA-DD-A39Y-01.png
exon_skip_141370_LIHC_TCGA-DD-A39Y-01.png
exon_skip_141945_LIHC_TCGA-DD-A39Y-01.png
exon_skip_143515_LIHC_TCGA-DD-A39Y-01.png
exon_skip_143728_LIHC_TCGA-DD-A39Y-01.png
exon_skip_14772_LIHC_TCGA-DD-A39Y-01.png
exon_skip_148319_LIHC_TCGA-DD-A39Y-01.png
exon_skip_148332_LIHC_TCGA-DD-A39Y-01.png
exon_skip_14897_LIHC_TCGA-DD-A39Y-01.png
exon_skip_150985_LIHC_TCGA-DD-A39Y-01.png
exon_skip_151979_LIHC_TCGA-DD-A39Y-01.png
exon_skip_153387_LIHC_TCGA-DD-A39Y-01.png
exon_skip_153494_LIHC_TCGA-DD-A39Y-01.png
exon_skip_153786_LIHC_TCGA-DD-A39Y-01.png
exon_skip_155021_LIHC_TCGA-DD-A39Y-01.png
exon_skip_155962_LIHC_TCGA-DD-A39Y-01.png
exon_skip_155964_LIHC_TCGA-DD-A39Y-01.png
exon_skip_19897_LIHC_TCGA-DD-A39Y-01.png
exon_skip_19898_LIHC_TCGA-DD-A39Y-01.png
exon_skip_19902_LIHC_TCGA-DD-A39Y-01.png
exon_skip_20050_LIHC_TCGA-DD-A39Y-01.png
exon_skip_20053_LIHC_TCGA-DD-A39Y-01.png
exon_skip_21823_LIHC_TCGA-DD-A39Y-01.png
exon_skip_22411_LIHC_TCGA-DD-A39Y-01.png
exon_skip_22908_LIHC_TCGA-DD-A39Y-01.png
exon_skip_23470_LIHC_TCGA-DD-A39Y-01.png
exon_skip_24870_LIHC_TCGA-DD-A39Y-01.png
exon_skip_25336_LIHC_TCGA-DD-A39Y-01.png
exon_skip_26316_LIHC_TCGA-DD-A39Y-01.png
exon_skip_26461_LIHC_TCGA-DD-A39Y-01.png
exon_skip_26958_LIHC_TCGA-DD-A39Y-01.png
exon_skip_27038_LIHC_TCGA-DD-A39Y-01.png
exon_skip_27415_LIHC_TCGA-DD-A39Y-01.png
exon_skip_283977_LIHC_TCGA-DD-A39Y-01.png
exon_skip_284046_LIHC_TCGA-DD-A39Y-01.png
exon_skip_289275_LIHC_TCGA-DD-A39Y-01.png
exon_skip_291046_LIHC_TCGA-DD-A39Y-01.png
exon_skip_291218_LIHC_TCGA-DD-A39Y-01.png
exon_skip_291361_LIHC_TCGA-DD-A39Y-01.png
exon_skip_292293_LIHC_TCGA-DD-A39Y-01.png
exon_skip_292562_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293040_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293045_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293052_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293118_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293546_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293549_LIHC_TCGA-DD-A39Y-01.png
exon_skip_294064_LIHC_TCGA-DD-A39Y-01.png
exon_skip_294067_LIHC_TCGA-DD-A39Y-01.png
exon_skip_29565_LIHC_TCGA-DD-A39Y-01.png
exon_skip_29733_LIHC_TCGA-DD-A39Y-01.png
exon_skip_299242_LIHC_TCGA-DD-A39Y-01.png
exon_skip_299287_LIHC_TCGA-DD-A39Y-01.png
exon_skip_299304_LIHC_TCGA-DD-A39Y-01.png
exon_skip_299306_LIHC_TCGA-DD-A39Y-01.png
exon_skip_299307_LIHC_TCGA-DD-A39Y-01.png
exon_skip_30001_LIHC_TCGA-DD-A39Y-01.png
exon_skip_300924_LIHC_TCGA-DD-A39Y-01.png
exon_skip_301267_LIHC_TCGA-DD-A39Y-01.png
exon_skip_301272_LIHC_TCGA-DD-A39Y-01.png
exon_skip_302090_LIHC_TCGA-DD-A39Y-01.png
exon_skip_302094_LIHC_TCGA-DD-A39Y-01.png
exon_skip_302095_LIHC_TCGA-DD-A39Y-01.png
exon_skip_302097_LIHC_TCGA-DD-A39Y-01.png
exon_skip_3064_LIHC_TCGA-DD-A39Y-01.png
exon_skip_306549_LIHC_TCGA-DD-A39Y-01.png
exon_skip_30744_LIHC_TCGA-DD-A39Y-01.png
exon_skip_309425_LIHC_TCGA-DD-A39Y-01.png
exon_skip_310969_LIHC_TCGA-DD-A39Y-01.png
exon_skip_311352_LIHC_TCGA-DD-A39Y-01.png
exon_skip_313264_LIHC_TCGA-DD-A39Y-01.png
exon_skip_313342_LIHC_TCGA-DD-A39Y-01.png
exon_skip_313654_LIHC_TCGA-DD-A39Y-01.png
exon_skip_315571_LIHC_TCGA-DD-A39Y-01.png
exon_skip_315574_LIHC_TCGA-DD-A39Y-01.png
exon_skip_316800_LIHC_TCGA-DD-A39Y-01.png
exon_skip_316803_LIHC_TCGA-DD-A39Y-01.png
exon_skip_31730_LIHC_TCGA-DD-A39Y-01.png
exon_skip_317832_LIHC_TCGA-DD-A39Y-01.png
exon_skip_319816_LIHC_TCGA-DD-A39Y-01.png
exon_skip_320714_LIHC_TCGA-DD-A39Y-01.png
exon_skip_320715_LIHC_TCGA-DD-A39Y-01.png
exon_skip_320801LIHC_TCGA-DD-A39Y-01.png
exon_skip_320805_LIHC_TCGA-DD-A39Y-01.png
exon_skip_321225_LIHC_TCGA-DD-A39Y-01.png
exon_skip_323910_LIHC_TCGA-DD-A39Y-01.png
exon_skip_32899_LIHC_TCGA-DD-A39Y-01.png
exon_skip_329221_LIHC_TCGA-DD-A39Y-01.png
exon_skip_331329_LIHC_TCGA-DD-A39Y-01.png
exon_skip_331444_LIHC_TCGA-DD-A39Y-01.png
exon_skip_332241_LIHC_TCGA-DD-A39Y-01.png
exon_skip_334248_LIHC_TCGA-DD-A39Y-01.png
exon_skip_335284_LIHC_TCGA-DD-A39Y-01.png
exon_skip_337247_LIHC_TCGA-DD-A39Y-01.png
exon_skip_34018_LIHC_TCGA-DD-A39Y-01.png
exon_skip_340419_LIHC_TCGA-DD-A39Y-01.png
exon_skip_34444_LIHC_TCGA-DD-A39Y-01.png
exon_skip_34446_LIHC_TCGA-DD-A39Y-01.png
exon_skip_346508_LIHC_TCGA-DD-A39Y-01.png
exon_skip_346721_LIHC_TCGA-DD-A39Y-01.png
exon_skip_346953_LIHC_TCGA-DD-A39Y-01.png
exon_skip_350661_LIHC_TCGA-DD-A39Y-01.png
exon_skip_352716_LIHC_TCGA-DD-A39Y-01.png
exon_skip_35400_LIHC_TCGA-DD-A39Y-01.png
exon_skip_354396_LIHC_TCGA-DD-A39Y-01.png
exon_skip_359435_LIHC_TCGA-DD-A39Y-01.png
exon_skip_360259_LIHC_TCGA-DD-A39Y-01.png
exon_skip_360261_LIHC_TCGA-DD-A39Y-01.png
exon_skip_360316_LIHC_TCGA-DD-A39Y-01.png
exon_skip_361235_LIHC_TCGA-DD-A39Y-01.png
exon_skip_364697_LIHC_TCGA-DD-A39Y-01.png
exon_skip_365330_LIHC_TCGA-DD-A39Y-01.png
exon_skip_369483_LIHC_TCGA-DD-A39Y-01.png
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	Sample: TCGA-KU-A66T-01
	Cancer type: HNSC
	ESID: exon_skip_320714
	Skipped exon start: 49952597
	Skipped exon end: 49952911
	Mutation start: 49952900
	Mutation end: 49952900
	Mutation type: Nonsense_Mutation
	Reference seq: T
	Mutation seq: A
	AAchange: p.K57*
	Sample: TCGA-KU-A66T-01
	Cancer type: HNSC
	ESID: exon_skip_320715
	Skipped exon start: 49952732
	Skipped exon end: 49952911
	Mutation start: 49952900
	Mutation end: 49952900
	Mutation type: Nonsense_Mutation
	Reference seq: T
	Mutation seq: A
	AAchange: p.K57*
exon_skip_320714_HNSC_TCGA-KU-A66T-01.png
exon_skip_320715_HNSC_TCGA-KU-A66T-01.png
exon_skip_371037_HNSC_TCGA-KU-A66T-01.png
exon_skip_372024_HNSC_TCGA-KU-A66T-01.png
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_320714
	Skipped exon start: 49952597
	Skipped exon end: 49952911
	Mutation start: 49952872
	Mutation end: 49952872
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.F66fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_320715
	Skipped exon start: 49952732
	Skipped exon end: 49952911
	Mutation start: 49952872
	Mutation end: 49952872
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.F66fs
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exon_skip_426530_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_446492_LIHC_TCGA-DD-A39Y-01.png
exon_skip_446495_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_450412_LIHC_TCGA-DD-A39Y-01.png
exon_skip_450419_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_456871_LIHC_TCGA-DD-A39Y-01.png
exon_skip_458039_LIHC_TCGA-DD-A39Y-01.png
exon_skip_458091_LIHC_TCGA-DD-A39Y-01.png
exon_skip_45824_LIHC_TCGA-DD-A39Y-01.png
exon_skip_458292_LIHC_TCGA-DD-A39Y-01.png
exon_skip_458727_LIHC_TCGA-DD-A39Y-01.png
exon_skip_459683_LIHC_TCGA-DD-A39Y-01.png
exon_skip_460515_LIHC_TCGA-DD-A39Y-01.png
exon_skip_463936_LIHC_TCGA-DD-A39Y-01.png
exon_skip_464994_LIHC_TCGA-DD-A39Y-01.png
exon_skip_465641_LIHC_TCGA-DD-A39Y-01.png
exon_skip_469364_LIHC_TCGA-DD-A39Y-01.png
exon_skip_470206_LIHC_TCGA-DD-A39Y-01.png
exon_skip_470208_LIHC_TCGA-DD-A39Y-01.png
exon_skip_470470_LIHC_TCGA-DD-A39Y-01.png
exon_skip_470485_LIHC_TCGA-DD-A39Y-01.png
exon_skip_471015_LIHC_TCGA-DD-A39Y-01.png
exon_skip_471018_LIHC_TCGA-DD-A39Y-01.png
exon_skip_471458_LIHC_TCGA-DD-A39Y-01.png
exon_skip_472524_LIHC_TCGA-DD-A39Y-01.png
exon_skip_472955_LIHC_TCGA-DD-A39Y-01.png
exon_skip_475132_LIHC_TCGA-DD-A39Y-01.png
exon_skip_47552_LIHC_TCGA-DD-A39Y-01.png
exon_skip_476535_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_477637_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_478401_LIHC_TCGA-DD-A39Y-01.png
exon_skip_478926_LIHC_TCGA-DD-A39Y-01.png
exon_skip_483792_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_489575_LIHC_TCGA-DD-A39Y-01.png
exon_skip_490603_LIHC_TCGA-DD-A39Y-01.png
exon_skip_491406_LIHC_TCGA-DD-A39Y-01.png
exon_skip_492075_LIHC_TCGA-DD-A39Y-01.png
exon_skip_492152_LIHC_TCGA-DD-A39Y-01.png
exon_skip_493904_LIHC_TCGA-DD-A39Y-01.png
exon_skip_493918_LIHC_TCGA-DD-A39Y-01.png
exon_skip_493920_LIHC_TCGA-DD-A39Y-01.png
exon_skip_494000_LIHC_TCGA-DD-A39Y-01.png
exon_skip_494030_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_494284_LIHC_TCGA-DD-A39Y-01.png
exon_skip_499522_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_507316_LIHC_TCGA-DD-A39Y-01.png
exon_skip_507513_LIHC_TCGA-DD-A39Y-01.png
exon_skip_50803_LIHC_TCGA-DD-A39Y-01.png
exon_skip_50804_LIHC_TCGA-DD-A39Y-01.png
exon_skip_510119_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_513240_LIHC_TCGA-DD-A39Y-01.png
exon_skip_5141_LIHC_TCGA-DD-A39Y-01.png
exon_skip_52393_LIHC_TCGA-DD-A39Y-01.png
exon_skip_54542_LIHC_TCGA-DD-A39Y-01.png
exon_skip_55185_LIHC_TCGA-DD-A39Y-01.png
exon_skip_56398_LIHC_TCGA-DD-A39Y-01.png
exon_skip_56399_LIHC_TCGA-DD-A39Y-01.png
exon_skip_56834_LIHC_TCGA-DD-A39Y-01.png
exon_skip_58444_LIHC_TCGA-DD-A39Y-01.png
exon_skip_58452_LIHC_TCGA-DD-A39Y-01.png
exon_skip_5861_LIHC_TCGA-DD-A39Y-01.png
exon_skip_60290_LIHC_TCGA-DD-A39Y-01.png
exon_skip_60294_LIHC_TCGA-DD-A39Y-01.png
exon_skip_60561_LIHC_TCGA-DD-A39Y-01.png
exon_skip_61147_LIHC_TCGA-DD-A39Y-01.png
exon_skip_6331_LIHC_TCGA-DD-A39Y-01.png
exon_skip_6399_LIHC_TCGA-DD-A39Y-01.png
exon_skip_64652_LIHC_TCGA-DD-A39Y-01.png
exon_skip_64657_LIHC_TCGA-DD-A39Y-01.png
exon_skip_65996_LIHC_TCGA-DD-A39Y-01.png
exon_skip_66666_LIHC_TCGA-DD-A39Y-01.png
exon_skip_67549_LIHC_TCGA-DD-A39Y-01.png
exon_skip_68080_LIHC_TCGA-DD-A39Y-01.png
exon_skip_6817_LIHC_TCGA-DD-A39Y-01.png
exon_skip_69250_LIHC_TCGA-DD-A39Y-01.png
exon_skip_70509_LIHC_TCGA-DD-A39Y-01.png
exon_skip_71759_LIHC_TCGA-DD-A39Y-01.png
exon_skip_71774_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_75089_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_78386_LIHC_TCGA-DD-A39Y-01.png
exon_skip_82069_LIHC_TCGA-DD-A39Y-01.png
exon_skip_82070_LIHC_TCGA-DD-A39Y-01.png
exon_skip_83493_LIHC_TCGA-DD-A39Y-01.png
exon_skip_83494_LIHC_TCGA-DD-A39Y-01.png
exon_skip_83512_LIHC_TCGA-DD-A39Y-01.png
exon_skip_83602_LIHC_TCGA-DD-A39Y-01.png
exon_skip_84090_LIHC_TCGA-DD-A39Y-01.png
exon_skip_84528_LIHC_TCGA-DD-A39Y-01.png
exon_skip_87720_LIHC_TCGA-DD-A39Y-01.png
exon_skip_87721_LIHC_TCGA-DD-A39Y-01.png
exon_skip_89597_LIHC_TCGA-DD-A39Y-01.png
exon_skip_93891_LIHC_TCGA-DD-A39Y-01.png
exon_skip_94842_LIHC_TCGA-DD-A39Y-01.png
exon_skip_94844_LIHC_TCGA-DD-A39Y-01.png
exon_skip_96282_LIHC_TCGA-DD-A39Y-01.png
exon_skip_96298_LIHC_TCGA-DD-A39Y-01.png
exon_skip_96557_LIHC_TCGA-DD-A39Y-01.png
exon_skip_96886_LIHC_TCGA-DD-A39Y-01.png
exon_skip_97738_LIHC_TCGA-DD-A39Y-01.png
exon_skip_97739_LIHC_TCGA-DD-A39Y-01.png
exon_skip_9807_LIHC_TCGA-DD-A39Y-01.png
exon_skip_98550_LIHC_TCGA-DD-A39Y-01.png
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320688
	Skipped exon start: 49949808
	Skipped exon end: 49949951
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320689
	Skipped exon start: 49949808
	Skipped exon end: 49950001
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320690
	Skipped exon start: 49949808
	Skipped exon end: 49950051
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320688
	Skipped exon start: 49949808
	Skipped exon end: 49949951
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q251fs
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320689
	Skipped exon start: 49949808
	Skipped exon end: 49950001
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q251fs
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320690
	Skipped exon start: 49949808
	Skipped exon end: 49950051
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q251fs
exon_skip_102588_STAD_TCGA-VQ-A8P2-01.png
exon_skip_122541_STAD_TCGA-VQ-A8P2-01.png
exon_skip_128780_STAD_TCGA-VQ-A8P2-01.png
exon_skip_143382_STAD_TCGA-VQ-A8P2-01.png
exon_skip_143383_STAD_TCGA-VQ-A8P2-01.png
exon_skip_148114_STAD_TCGA-VQ-A8P2-01.png
exon_skip_287192_STAD_TCGA-VQ-A8P2-01.png
exon_skip_291811_STAD_TCGA-VQ-A8P2-01.png
exon_skip_320689_STAD_TCGA-VQ-A8P2-01.png
exon_skip_320690_STAD_TCGA-VQ-A8P2-01.png
exon_skip_328488_STAD_TCGA-VQ-A8P2-01.png
exon_skip_356820_STAD_TCGA-VQ-A8P2-01.png
exon_skip_356824_STAD_TCGA-VQ-A8P2-01.png
exon_skip_375393_STAD_TCGA-VQ-A8P2-01.png
exon_skip_381459_STAD_TCGA-VQ-A8P2-01.png
exon_skip_3837_STAD_TCGA-VQ-A8P2-01.png
exon_skip_387613_STAD_TCGA-VQ-A8P2-01.png
exon_skip_431990_STAD_TCGA-VQ-A8P2-01.png
exon_skip_440277_STAD_TCGA-VQ-A8P2-01.png
exon_skip_443275_STAD_TCGA-VQ-A8P2-01.png
exon_skip_448545_STAD_TCGA-VQ-A8P2-01.png
exon_skip_470847_STAD_TCGA-VQ-A8P2-01.png
exon_skip_481483_STAD_TCGA-VQ-A8P2-01.png
exon_skip_5195_STAD_TCGA-VQ-A8P2-01.png
exon_skip_5826_STAD_TCGA-VQ-A8P2-01.png
exon_skip_74538_STAD_TCGA-VQ-A8P2-01.png
exon_skip_91142_STAD_TCGA-VQ-A8P2-01.png
exon_skip_91143_STAD_TCGA-VQ-A8P2-01.png
	Sample: TCGA-HU-A4H3-01
	Cancer type: STAD
	ESID: exon_skip_320688
	Skipped exon start: 49949808
	Skipped exon end: 49949951
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
	Sample: TCGA-HU-A4H3-01
	Cancer type: STAD
	ESID: exon_skip_320689
	Skipped exon start: 49949808
	Skipped exon end: 49950001
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
	Sample: TCGA-HU-A4H3-01
	Cancer type: STAD
	ESID: exon_skip_320690
	Skipped exon start: 49949808
	Skipped exon end: 49950051
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
exon_skip_101895_STAD_TCGA-HU-A4H3-01.png
exon_skip_101900_STAD_TCGA-HU-A4H3-01.png
exon_skip_134053_STAD_TCGA-HU-A4H3-01.png
exon_skip_142361_STAD_TCGA-HU-A4H3-01.png
exon_skip_21488_STAD_TCGA-HU-A4H3-01.png
exon_skip_286384_STAD_TCGA-HU-A4H3-01.png
exon_skip_299738_STAD_TCGA-HU-A4H3-01.png
exon_skip_307491_STAD_TCGA-HU-A4H3-01.png
exon_skip_308974_STAD_TCGA-HU-A4H3-01.png
exon_skip_308983_STAD_TCGA-HU-A4H3-01.png
exon_skip_312995_STAD_TCGA-HU-A4H3-01.png
exon_skip_320688_STAD_TCGA-HU-A4H3-01.png
exon_skip_320689_STAD_TCGA-HU-A4H3-01.png
exon_skip_320690_STAD_TCGA-HU-A4H3-01.png
exon_skip_328488_STAD_TCGA-HU-A4H3-01.png
exon_skip_330511_STAD_TCGA-HU-A4H3-01.png
exon_skip_450406_STAD_TCGA-HU-A4H3-01.png
exon_skip_60290_STAD_TCGA-HU-A4H3-01.png
exon_skip_60294_STAD_TCGA-HU-A4H3-01.png
exon_skip_69561_STAD_TCGA-HU-A4H3-01.png
exon_skip_74347_STAD_TCGA-HU-A4H3-01.png
exon_skip_8059_STAD_TCGA-HU-A4H3-01.png
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320688
	Skipped exon start: 49949808
	Skipped exon end: 49949951
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320689
	Skipped exon start: 49949808
	Skipped exon end: 49950001
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320690
	Skipped exon start: 49949808
	Skipped exon end: 49950051
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320688
	Skipped exon start: 49949808
	Skipped exon end: 49949951
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q251fs
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320689
	Skipped exon start: 49949808
	Skipped exon end: 49950001
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q251fs
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320690
	Skipped exon start: 49949808
	Skipped exon end: 49950051
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q251fs
exon_skip_102588_STAD_TCGA-VQ-A8P2-01.png
exon_skip_122541_STAD_TCGA-VQ-A8P2-01.png
exon_skip_128780_STAD_TCGA-VQ-A8P2-01.png
exon_skip_143382_STAD_TCGA-VQ-A8P2-01.png
exon_skip_143383_STAD_TCGA-VQ-A8P2-01.png
exon_skip_148114_STAD_TCGA-VQ-A8P2-01.png
exon_skip_287192_STAD_TCGA-VQ-A8P2-01.png
exon_skip_291811_STAD_TCGA-VQ-A8P2-01.png
exon_skip_320689_STAD_TCGA-VQ-A8P2-01.png
exon_skip_320690_STAD_TCGA-VQ-A8P2-01.png
exon_skip_328488_STAD_TCGA-VQ-A8P2-01.png
exon_skip_356820_STAD_TCGA-VQ-A8P2-01.png
exon_skip_356824_STAD_TCGA-VQ-A8P2-01.png
exon_skip_375393_STAD_TCGA-VQ-A8P2-01.png
exon_skip_381459_STAD_TCGA-VQ-A8P2-01.png
exon_skip_3837_STAD_TCGA-VQ-A8P2-01.png
exon_skip_387613_STAD_TCGA-VQ-A8P2-01.png
exon_skip_431990_STAD_TCGA-VQ-A8P2-01.png
exon_skip_440277_STAD_TCGA-VQ-A8P2-01.png
exon_skip_443275_STAD_TCGA-VQ-A8P2-01.png
exon_skip_448545_STAD_TCGA-VQ-A8P2-01.png
exon_skip_470847_STAD_TCGA-VQ-A8P2-01.png
exon_skip_481483_STAD_TCGA-VQ-A8P2-01.png
exon_skip_5195_STAD_TCGA-VQ-A8P2-01.png
exon_skip_5826_STAD_TCGA-VQ-A8P2-01.png
exon_skip_74538_STAD_TCGA-VQ-A8P2-01.png
exon_skip_91142_STAD_TCGA-VQ-A8P2-01.png
exon_skip_91143_STAD_TCGA-VQ-A8P2-01.png
	Sample: TCGA-HU-A4H3-01
	Cancer type: STAD
	ESID: exon_skip_320688
	Skipped exon start: 49949808
	Skipped exon end: 49949951
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
	Sample: TCGA-HU-A4H3-01
	Cancer type: STAD
	ESID: exon_skip_320689
	Skipped exon start: 49949808
	Skipped exon end: 49950001
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
	Sample: TCGA-HU-A4H3-01
	Cancer type: STAD
	ESID: exon_skip_320690
	Skipped exon start: 49949808
	Skipped exon end: 49950051
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
exon_skip_101895_STAD_TCGA-HU-A4H3-01.png
exon_skip_101900_STAD_TCGA-HU-A4H3-01.png
exon_skip_134053_STAD_TCGA-HU-A4H3-01.png
exon_skip_142361_STAD_TCGA-HU-A4H3-01.png
exon_skip_21488_STAD_TCGA-HU-A4H3-01.png
exon_skip_286384_STAD_TCGA-HU-A4H3-01.png
exon_skip_299738_STAD_TCGA-HU-A4H3-01.png
exon_skip_307491_STAD_TCGA-HU-A4H3-01.png
exon_skip_308974_STAD_TCGA-HU-A4H3-01.png
exon_skip_308983_STAD_TCGA-HU-A4H3-01.png
exon_skip_312995_STAD_TCGA-HU-A4H3-01.png
exon_skip_320688_STAD_TCGA-HU-A4H3-01.png
exon_skip_320689_STAD_TCGA-HU-A4H3-01.png
exon_skip_320690_STAD_TCGA-HU-A4H3-01.png
exon_skip_328488_STAD_TCGA-HU-A4H3-01.png
exon_skip_330511_STAD_TCGA-HU-A4H3-01.png
exon_skip_450406_STAD_TCGA-HU-A4H3-01.png
exon_skip_60290_STAD_TCGA-HU-A4H3-01.png
exon_skip_60294_STAD_TCGA-HU-A4H3-01.png
exon_skip_69561_STAD_TCGA-HU-A4H3-01.png
exon_skip_74347_STAD_TCGA-HU-A4H3-01.png
exon_skip_8059_STAD_TCGA-HU-A4H3-01.png
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320688
	Skipped exon start: 49949808
	Skipped exon end: 49949951
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320689
	Skipped exon start: 49949808
	Skipped exon end: 49950001
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320690
	Skipped exon start: 49949808
	Skipped exon end: 49950051
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320688
	Skipped exon start: 49949808
	Skipped exon end: 49949951
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q251fs
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320689
	Skipped exon start: 49949808
	Skipped exon end: 49950001
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q251fs
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID: exon_skip_320690
	Skipped exon start: 49949808
	Skipped exon end: 49950051
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q251fs
exon_skip_102588_STAD_TCGA-VQ-A8P2-01.png
exon_skip_122541_STAD_TCGA-VQ-A8P2-01.png
exon_skip_128780_STAD_TCGA-VQ-A8P2-01.png
exon_skip_143382_STAD_TCGA-VQ-A8P2-01.png
exon_skip_143383_STAD_TCGA-VQ-A8P2-01.png
exon_skip_148114_STAD_TCGA-VQ-A8P2-01.png
exon_skip_287192_STAD_TCGA-VQ-A8P2-01.png
exon_skip_291811_STAD_TCGA-VQ-A8P2-01.png
exon_skip_320689_STAD_TCGA-VQ-A8P2-01.png
exon_skip_320690_STAD_TCGA-VQ-A8P2-01.png
exon_skip_328488_STAD_TCGA-VQ-A8P2-01.png
exon_skip_356820_STAD_TCGA-VQ-A8P2-01.png
exon_skip_356824_STAD_TCGA-VQ-A8P2-01.png
exon_skip_375393_STAD_TCGA-VQ-A8P2-01.png
exon_skip_381459_STAD_TCGA-VQ-A8P2-01.png
exon_skip_3837_STAD_TCGA-VQ-A8P2-01.png
exon_skip_387613_STAD_TCGA-VQ-A8P2-01.png
exon_skip_431990_STAD_TCGA-VQ-A8P2-01.png
exon_skip_440277_STAD_TCGA-VQ-A8P2-01.png
exon_skip_443275_STAD_TCGA-VQ-A8P2-01.png
exon_skip_448545_STAD_TCGA-VQ-A8P2-01.png
exon_skip_470847_STAD_TCGA-VQ-A8P2-01.png
exon_skip_481483_STAD_TCGA-VQ-A8P2-01.png
exon_skip_5195_STAD_TCGA-VQ-A8P2-01.png
exon_skip_5826_STAD_TCGA-VQ-A8P2-01.png
exon_skip_74538_STAD_TCGA-VQ-A8P2-01.png
exon_skip_91142_STAD_TCGA-VQ-A8P2-01.png
exon_skip_91143_STAD_TCGA-VQ-A8P2-01.png
	Sample: TCGA-HU-A4H3-01
	Cancer type: STAD
	ESID: exon_skip_320688
	Skipped exon start: 49949808
	Skipped exon end: 49949951
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
	Sample: TCGA-HU-A4H3-01
	Cancer type: STAD
	ESID: exon_skip_320689
	Skipped exon start: 49949808
	Skipped exon end: 49950001
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
	Sample: TCGA-HU-A4H3-01
	Cancer type: STAD
	ESID: exon_skip_320690
	Skipped exon start: 49949808
	Skipped exon end: 49950051
	Mutation start: 49949891
	Mutation end: 49949891
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.Q250fs
exon_skip_101895_STAD_TCGA-HU-A4H3-01.png
exon_skip_101900_STAD_TCGA-HU-A4H3-01.png
exon_skip_134053_STAD_TCGA-HU-A4H3-01.png
exon_skip_142361_STAD_TCGA-HU-A4H3-01.png
exon_skip_21488_STAD_TCGA-HU-A4H3-01.png
exon_skip_286384_STAD_TCGA-HU-A4H3-01.png
exon_skip_299738_STAD_TCGA-HU-A4H3-01.png
exon_skip_307491_STAD_TCGA-HU-A4H3-01.png
exon_skip_308974_STAD_TCGA-HU-A4H3-01.png
exon_skip_308983_STAD_TCGA-HU-A4H3-01.png
exon_skip_312995_STAD_TCGA-HU-A4H3-01.png
exon_skip_320688_STAD_TCGA-HU-A4H3-01.png
exon_skip_320689_STAD_TCGA-HU-A4H3-01.png
exon_skip_320690_STAD_TCGA-HU-A4H3-01.png
exon_skip_328488_STAD_TCGA-HU-A4H3-01.png
exon_skip_330511_STAD_TCGA-HU-A4H3-01.png
exon_skip_450406_STAD_TCGA-HU-A4H3-01.png
exon_skip_60290_STAD_TCGA-HU-A4H3-01.png
exon_skip_60294_STAD_TCGA-HU-A4H3-01.png
exon_skip_69561_STAD_TCGA-HU-A4H3-01.png
exon_skip_74347_STAD_TCGA-HU-A4H3-01.png
exon_skip_8059_STAD_TCGA-HU-A4H3-01.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
HEC6_ENDOMETRIUM	49949808	49949951	49949896	49949896	Frame_Shift_Del	C	-	p.G248fs
HEC6_ENDOMETRIUM	49949808	49950001	49949896	49949896	Frame_Shift_Del	C	-	p.G248fs
HEC6_ENDOMETRIUM	49949808	49950051	49949896	49949896	Frame_Shift_Del	C	-	p.G248fs
TTC442_SOFT_TISSUE	49951258	49951319	49951266	49951270	Frame_Shift_Del	TCCGG	-	p.YRR129fs
SKUT1_SOFT_TISSUE	49950595	49950724	49950599	49950599	Missense_Mutation	A	C	p.S203A
SKUT1_SOFT_TISSUE	49950595	49950677	49950599	49950599	Missense_Mutation	A	C	p.S203A
SKUT1_SOFT_TISSUE	49950595	49950674	49950599	49950599	Missense_Mutation	A	C	p.S203A
SNU324_PANCREAS	49950595	49950724	49950616	49950616	Missense_Mutation	G	A	p.A197V
SNU324_PANCREAS	49950595	49950677	49950616	49950616	Missense_Mutation	G	A	p.A197V
SNU324_PANCREAS	49950595	49950674	49950616	49950616	Missense_Mutation	G	A	p.A197V
SNU407_LARGE_INTESTINE	49950595	49950724	49950637	49950637	Missense_Mutation	A	G	p.L190P
SNU407_LARGE_INTESTINE	49950595	49950677	49950637	49950637	Missense_Mutation	A	G	p.L190P
SNU407_LARGE_INTESTINE	49950595	49950674	49950637	49950637	Missense_Mutation	A	G	p.L190P
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49950595	49950724	49950719	49950719	Missense_Mutation	G	A	p.R163C
COLO824_BREAST	49950595	49950724	49950720	49950720	Missense_Mutation	C	A	p.W162C
HEC59_ENDOMETRIUM	49951084	49951165	49951086	49951086	Missense_Mutation	G	A	p.P160L
MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49952597	49952911	49952777	49952777	Missense_Mutation	G	A	p.R98C
MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49952732	49952911	49952777	49952777	Missense_Mutation	G	A	p.R98C
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49952597	49952911	49952905	49952905	Missense_Mutation	C	T	p.C55Y
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49952732	49952911	49952905	49952905	Missense_Mutation	C	T	p.C55Y
LN319_CENTRAL_NERVOUS_SYSTEM	49952597	49952911	49952908	49952908	Missense_Mutation	A	T	p.F54Y
LN319_CENTRAL_NERVOUS_SYSTEM	49952732	49952911	49952908	49952908	Missense_Mutation	A	T	p.F54Y
SW48_LARGE_INTESTINE	49949808	49949951	49949888	49949888	Nonsense_Mutation	G	A	p.Q251*
SW48_LARGE_INTESTINE	49949808	49950001	49949888	49949888	Nonsense_Mutation	G	A	p.Q251*
SW48_LARGE_INTESTINE	49949808	49950051	49949888	49949888	Nonsense_Mutation	G	A	p.Q251*
TE4_OESOPHAGUS	49954039	49954105	49954045	49954045	Nonsense_Mutation	G	A	p.Q51*
TE4_OESOPHAGUS	49954039	49954196	49954045	49954045	Nonsense_Mutation	G	A	p.Q51*
PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49949808	49949951	49949951	49949951	Splice_Site	C	T	p.D230N
PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49949808	49950001	49949951	49949951	Splice_Site	C	T	p.D230N
PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49949808	49950051	49949951	49949951	Splice_Site	C	T	p.D230N
BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49949808	49949951	49949951	49949951	Splice_Site	C	T	p.D230N
BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49949808	49950001	49949951	49949951	Splice_Site	C	T	p.D230N
BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	49949808	49950051	49949951	49949951	Splice_Site	C	T	p.D230N
MDAMB436_BREAST	49951084	49951165	49951085	49951085	Splice_Site	C	T	p.P160P

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PIH1D1

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_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	CESC	rs2293013	chr19:49954803	C/T	2.44e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	CESC	rs2293012	chr19:49954807	T/G	2.44e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	CESC	rs2293013	chr19:49954803	C/T	2.44e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	CESC	rs2293012	chr19:49954807	T/G	2.44e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	ESCA	rs2293013	chr19:49954803	C/T	9.04e-05
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	ESCA	rs2293012	chr19:49954807	T/G	9.04e-05
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	ESCA	rs2293013	chr19:49954803	C/T	9.04e-05
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	ESCA	rs2293012	chr19:49954807	T/G	9.04e-05
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	HNSC	rs2293013	chr19:49954803	C/T	3.53e-10
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	HNSC	rs2293012	chr19:49954807	T/G	3.53e-10
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	HNSC	rs2293013	chr19:49954803	C/T	3.54e-10
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	HNSC	rs2293012	chr19:49954807	T/G	3.54e-10
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	BRCA	rs2293013	chr19:49954803	C/T	9.60e-14
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	BRCA	rs2293013	chr19:49954803	C/T	9.80e-14
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	BRCA	rs2293012	chr19:49954807	T/G	1.23e-13
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	BRCA	rs2293012	chr19:49954807	T/G	1.26e-13
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	KIRP	rs2293013	chr19:49954803	C/T	2.97e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	KIRP	rs2293012	chr19:49954807	T/G	2.97e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	KIRP	rs2293013	chr19:49954803	C/T	2.98e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	KIRP	rs2293012	chr19:49954807	T/G	2.98e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	LUAD	rs2293013	chr19:49954803	C/T	1.95e-03
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	LUAD	rs2293012	chr19:49954807	T/G	1.95e-03
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	LUAD	rs2293013	chr19:49954803	C/T	1.95e-03
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	LUAD	rs2293012	chr19:49954807	T/G	1.95e-03
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	PCPG	rs2293013	chr19:49954803	C/T	1.71e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	PCPG	rs2293012	chr19:49954807	T/G	1.71e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	PCPG	rs2293013	chr19:49954803	C/T	1.71e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	PCPG	rs2293012	chr19:49954807	T/G	1.71e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	PAAD	rs2293013	chr19:49954803	C/T	5.08e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	PAAD	rs2293012	chr19:49954807	T/G	5.08e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	PAAD	rs2293013	chr19:49954803	C/T	5.09e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	PAAD	rs2293012	chr19:49954807	T/G	5.09e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	SARC	rs2293013	chr19:49954803	C/T	2.50e-06
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	SARC	rs2293012	chr19:49954807	T/G	2.50e-06
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	SARC	rs2293013	chr19:49954803	C/T	2.50e-06
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	SARC	rs2293012	chr19:49954807	T/G	2.50e-06
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	STAD	rs2293013	chr19:49954803	C/T	3.49e-09
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	STAD	rs2293012	chr19:49954807	T/G	3.49e-09
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	STAD	rs2293013	chr19:49954803	C/T	3.52e-09
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	STAD	rs2293012	chr19:49954807	T/G	3.52e-09
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	THCA	rs2293013	chr19:49954803	C/T	6.25e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	THCA	rs2293012	chr19:49954807	T/G	6.25e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	THCA	rs2293013	chr19:49954803	C/T	6.25e-04
exon_skip_320738	19	49954038:49954105:49954741:49954835:49956632:49956750	49954741:49954835	ENST00000599366.1	THCA	rs2293012	chr19:49954807	T/G	6.25e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	CESC	rs2293013	chr19:49954803	C/T	2.44e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	CESC	rs2293012	chr19:49954807	T/G	2.44e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	CESC	rs2293013	chr19:49954803	C/T	2.44e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	CESC	rs2293012	chr19:49954807	T/G	2.44e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	ESCA	rs2293013	chr19:49954803	C/T	9.04e-05
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	ESCA	rs2293012	chr19:49954807	T/G	9.04e-05
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	ESCA	rs2293013	chr19:49954803	C/T	9.04e-05
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	ESCA	rs2293012	chr19:49954807	T/G	9.04e-05
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	HNSC	rs2293013	chr19:49954803	C/T	3.53e-10
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	HNSC	rs2293012	chr19:49954807	T/G	3.53e-10
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	HNSC	rs2293013	chr19:49954803	C/T	3.54e-10
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	HNSC	rs2293012	chr19:49954807	T/G	3.54e-10
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	BRCA	rs2293013	chr19:49954803	C/T	9.60e-14
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	BRCA	rs2293013	chr19:49954803	C/T	9.80e-14
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	BRCA	rs2293012	chr19:49954807	T/G	1.23e-13
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	BRCA	rs2293012	chr19:49954807	T/G	1.26e-13
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	KIRP	rs2293013	chr19:49954803	C/T	2.97e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	KIRP	rs2293012	chr19:49954807	T/G	2.97e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	KIRP	rs2293013	chr19:49954803	C/T	2.98e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	KIRP	rs2293012	chr19:49954807	T/G	2.98e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	LUAD	rs2293013	chr19:49954803	C/T	1.95e-03
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	LUAD	rs2293012	chr19:49954807	T/G	1.95e-03
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	LUAD	rs2293013	chr19:49954803	C/T	1.95e-03
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	LUAD	rs2293012	chr19:49954807	T/G	1.95e-03
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	PCPG	rs2293013	chr19:49954803	C/T	1.71e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	PCPG	rs2293012	chr19:49954807	T/G	1.71e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	PCPG	rs2293013	chr19:49954803	C/T	1.71e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	PCPG	rs2293012	chr19:49954807	T/G	1.71e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	PAAD	rs2293013	chr19:49954803	C/T	5.08e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	PAAD	rs2293012	chr19:49954807	T/G	5.08e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	PAAD	rs2293013	chr19:49954803	C/T	5.09e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	PAAD	rs2293012	chr19:49954807	T/G	5.09e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	SARC	rs2293013	chr19:49954803	C/T	2.50e-06
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	SARC	rs2293012	chr19:49954807	T/G	2.50e-06
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	SARC	rs2293013	chr19:49954803	C/T	2.50e-06
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	SARC	rs2293012	chr19:49954807	T/G	2.50e-06
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	STAD	rs2293013	chr19:49954803	C/T	3.49e-09
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	STAD	rs2293012	chr19:49954807	T/G	3.49e-09
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	STAD	rs2293013	chr19:49954803	C/T	3.52e-09
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	STAD	rs2293012	chr19:49954807	T/G	3.52e-09
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	THCA	rs2293013	chr19:49954803	C/T	6.25e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	THCA	rs2293012	chr19:49954807	T/G	6.25e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	THCA	rs2293013	chr19:49954803	C/T	6.25e-04
exon_skip_320732	19	49954038:49954105:49954624:49954835:49956526:49956754	49954624:49954835	ENST00000597415.1	THCA	rs2293012	chr19:49954807	T/G	6.25e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	CESC	rs2293013	chr19:49954803	C/T	2.44e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	CESC	rs2293012	chr19:49954807	T/G	2.44e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	CESC	rs2293013	chr19:49954803	C/T	2.44e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	CESC	rs2293012	chr19:49954807	T/G	2.44e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	ESCA	rs2293013	chr19:49954803	C/T	9.04e-05
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	ESCA	rs2293012	chr19:49954807	T/G	9.04e-05
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	ESCA	rs2293013	chr19:49954803	C/T	9.04e-05
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	ESCA	rs2293012	chr19:49954807	T/G	9.04e-05
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	HNSC	rs2293013	chr19:49954803	C/T	3.53e-10
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	HNSC	rs2293012	chr19:49954807	T/G	3.53e-10
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	HNSC	rs2293013	chr19:49954803	C/T	3.54e-10
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	HNSC	rs2293012	chr19:49954807	T/G	3.54e-10
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	BRCA	rs2293013	chr19:49954803	C/T	9.60e-14
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	BRCA	rs2293013	chr19:49954803	C/T	9.80e-14
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	BRCA	rs2293012	chr19:49954807	T/G	1.23e-13
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	BRCA	rs2293012	chr19:49954807	T/G	1.26e-13
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	KIRP	rs2293013	chr19:49954803	C/T	2.97e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	KIRP	rs2293012	chr19:49954807	T/G	2.97e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	KIRP	rs2293013	chr19:49954803	C/T	2.98e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	KIRP	rs2293012	chr19:49954807	T/G	2.98e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	LUAD	rs2293013	chr19:49954803	C/T	1.95e-03
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	LUAD	rs2293012	chr19:49954807	T/G	1.95e-03
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	LUAD	rs2293013	chr19:49954803	C/T	1.95e-03
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	LUAD	rs2293012	chr19:49954807	T/G	1.95e-03
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	PCPG	rs2293013	chr19:49954803	C/T	1.71e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	PCPG	rs2293012	chr19:49954807	T/G	1.71e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	PCPG	rs2293013	chr19:49954803	C/T	1.71e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	PCPG	rs2293012	chr19:49954807	T/G	1.71e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	PAAD	rs2293013	chr19:49954803	C/T	5.08e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	PAAD	rs2293012	chr19:49954807	T/G	5.08e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	PAAD	rs2293013	chr19:49954803	C/T	5.09e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	PAAD	rs2293012	chr19:49954807	T/G	5.09e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	SARC	rs2293013	chr19:49954803	C/T	2.50e-06
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	SARC	rs2293012	chr19:49954807	T/G	2.50e-06
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	SARC	rs2293013	chr19:49954803	C/T	2.50e-06
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	SARC	rs2293012	chr19:49954807	T/G	2.50e-06
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	STAD	rs2293013	chr19:49954803	C/T	3.49e-09
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	STAD	rs2293012	chr19:49954807	T/G	3.49e-09
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	STAD	rs2293013	chr19:49954803	C/T	3.52e-09
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	STAD	rs2293012	chr19:49954807	T/G	3.52e-09
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	THCA	rs2293013	chr19:49954803	C/T	6.25e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	THCA	rs2293012	chr19:49954807	T/G	6.25e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	THCA	rs2293013	chr19:49954803	C/T	6.25e-04
exon_skip_320739	19	49954038:49954105:49954741:49954835:49956649:49956751	49954741:49954835	ENST00000596049.1	THCA	rs2293012	chr19:49954807	T/G	6.25e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	CESC	rs2293013	chr19:49954803	C/T	2.44e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	CESC	rs2293012	chr19:49954807	T/G	2.44e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	CESC	rs2293013	chr19:49954803	C/T	2.44e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	CESC	rs2293012	chr19:49954807	T/G	2.44e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	ESCA	rs2293013	chr19:49954803	C/T	9.04e-05
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	ESCA	rs2293012	chr19:49954807	T/G	9.04e-05
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	ESCA	rs2293013	chr19:49954803	C/T	9.04e-05
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	ESCA	rs2293012	chr19:49954807	T/G	9.04e-05
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	HNSC	rs2293013	chr19:49954803	C/T	3.53e-10
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	HNSC	rs2293012	chr19:49954807	T/G	3.53e-10
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	HNSC	rs2293013	chr19:49954803	C/T	3.54e-10
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	HNSC	rs2293012	chr19:49954807	T/G	3.54e-10
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	BRCA	rs2293013	chr19:49954803	C/T	9.60e-14
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	BRCA	rs2293013	chr19:49954803	C/T	9.80e-14
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	BRCA	rs2293012	chr19:49954807	T/G	1.23e-13
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	BRCA	rs2293012	chr19:49954807	T/G	1.26e-13
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	KIRP	rs2293013	chr19:49954803	C/T	2.97e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	KIRP	rs2293012	chr19:49954807	T/G	2.97e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	KIRP	rs2293013	chr19:49954803	C/T	2.98e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	KIRP	rs2293012	chr19:49954807	T/G	2.98e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	LUAD	rs2293013	chr19:49954803	C/T	1.95e-03
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	LUAD	rs2293012	chr19:49954807	T/G	1.95e-03
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	LUAD	rs2293013	chr19:49954803	C/T	1.95e-03
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	LUAD	rs2293012	chr19:49954807	T/G	1.95e-03
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	PCPG	rs2293013	chr19:49954803	C/T	1.71e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	PCPG	rs2293012	chr19:49954807	T/G	1.71e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	PCPG	rs2293013	chr19:49954803	C/T	1.71e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	PCPG	rs2293012	chr19:49954807	T/G	1.71e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	PAAD	rs2293013	chr19:49954803	C/T	5.08e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	PAAD	rs2293012	chr19:49954807	T/G	5.08e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	PAAD	rs2293013	chr19:49954803	C/T	5.09e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	PAAD	rs2293012	chr19:49954807	T/G	5.09e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	SARC	rs2293013	chr19:49954803	C/T	2.50e-06
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	SARC	rs2293012	chr19:49954807	T/G	2.50e-06
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	SARC	rs2293013	chr19:49954803	C/T	2.50e-06
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	SARC	rs2293012	chr19:49954807	T/G	2.50e-06
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	STAD	rs2293013	chr19:49954803	C/T	3.49e-09
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	STAD	rs2293012	chr19:49954807	T/G	3.49e-09
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	STAD	rs2293013	chr19:49954803	C/T	3.52e-09
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	STAD	rs2293012	chr19:49954807	T/G	3.52e-09
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	THCA	rs2293013	chr19:49954803	C/T	6.25e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	THCA	rs2293012	chr19:49954807	T/G	6.25e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	THCA	rs2293013	chr19:49954803	C/T	6.25e-04
exon_skip_320741	19	49954038:49954105:49954741:49954848:49956632:49956750	49954741:49954848	ENST00000601825.1	THCA	rs2293012	chr19:49954807	T/G	6.25e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIH1D1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIH1D1

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RelatedDrugs for PIH1D1

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 PIH1D1

Diseases associated with this gene. (DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

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