ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for HIF1A

Gene summary

Gene information	Gene symbol	HIF1A
	Gene ID	3091
	Gene name	hypoxia inducible factor 1 subunit alpha
	Synonyms	HIF-1-alpha\|HIF-1A\|HIF-1alpha\|HIF1\|HIF1-ALPHA\|MOP1\|PASD8\|bHLHe78
	Cytomap	14q23.2
	Type of gene	protein-coding
	Description	hypoxia-inducible factor 1-alphaARNT interacting proteinPAS domain-containing protein 8basic-helix-loop-helix-PAS protein MOP1class E basic helix-loop-helix protein 78hypoxia inducible factor 1 alpha subunithypoxia inducible factor 1, alpha subunit
	Modification date	20180527
	UniProtAcc	Q16665
	Context	PubMed: HIF1A [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
HIF1A	GO:0001666	response to hypoxia	8756616\|9887100\|11782478\|15261140\|18419598
HIF1A	GO:0006355	regulation of transcription, DNA-templated	11782478\|15261140
HIF1A	GO:0010468	regulation of gene expression	18419598
HIF1A	GO:0010573	vascular endothelial growth factor production	12958148
HIF1A	GO:0010575	positive regulation of vascular endothelial growth factor production	8756616
HIF1A	GO:0010628	positive regulation of gene expression	15459207\|24244340
HIF1A	GO:0032364	oxygen homeostasis	16956324
HIF1A	GO:0043619	regulation of transcription from RNA polymerase II promoter in response to oxidative stress	8089148\|8387214
HIF1A	GO:0045893	positive regulation of transcription, DNA-templated	8089148\|9887100
HIF1A	GO:0045944	positive regulation of transcription by RNA polymerase II	11573933\|25043030
HIF1A	GO:0046886	positive regulation of hormone biosynthetic process	1448077
HIF1A	GO:0061419	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	22735262
HIF1A	GO:0071456	cellular response to hypoxia	11573933\|19528298\|20889502
HIF1A	GO:1903377	negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	24899725

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Exon skipping events across known transcript of Ensembl for HIF1A 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 HIF1A

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 HIF1A

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_107187	14	62162494:62162557:62187096:62187290:62188226:62188372	62187096:62187290	ENSG00000100644.12	ENST00000394997.1
exon_skip_107188	14	62162494:62162557:62187099:62187290:62188226:62188372	62187099:62187290	ENSG00000100644.12	ENST00000337138.4,ENST00000323441.6
exon_skip_107192	14	62188226:62188372:62188456:62188541:62193423:62193481	62188456:62188541	ENSG00000100644.12	ENST00000557206.1,ENST00000539097.1,ENST00000337138.4,ENST00000323441.6,ENST00000394997.1,ENST00000557538.1,ENST00000553999.1
exon_skip_107198	14	62193423:62193536:62194170:62194373:62199135:62199242	62194170:62194373	ENSG00000100644.12	ENST00000539097.1,ENST00000337138.4,ENST00000323441.6,ENST00000394997.1,ENST00000557538.1
exon_skip_107200	14	62194170:62194373:62199135:62199242:62200855:62201003	62199135:62199242	ENSG00000100644.12	ENST00000539097.1,ENST00000337138.4,ENST00000323441.6,ENST00000394997.1,ENST00000557538.1
exon_skip_107202	14	62203650:62203827:62204804:62205091:62207222:62207345	62204804:62205091	ENSG00000100644.12	ENST00000539097.1,ENST00000337138.4,ENST00000323441.6,ENST00000394997.1,ENST00000557538.1
exon_skip_107211	14	62203607:62203827:62207260:62207345:62207472:62207616	62207260:62207345	ENSG00000100644.12	ENST00000555014.1
exon_skip_107215	14	62204810:62205091:62207222:62207345:62207472:62207616	62207222:62207345	ENSG00000100644.12	ENST00000539097.1,ENST00000337138.4,ENST00000323441.6,ENST00000394997.1,ENST00000557538.1
exon_skip_107230	14	62207260:62207345:62207472:62207906:62211422:62211531	62207472:62207906	ENSG00000100644.12	ENST00000539097.1,ENST00000337138.4,ENST00000323441.6,ENST00000394997.1,ENST00000557538.1
exon_skip_107234	14	62207472:62207906:62211422:62211531:62212408:62212535	62211422:62211531	ENSG00000100644.12	ENST00000539097.1,ENST00000337138.4,ENST00000394997.1,ENST00000557538.1
exon_skip_107235	14	62207472:62207906:62211422:62211531:62213651:62214190	62211422:62211531	ENSG00000100644.12	ENST00000323441.6
exon_skip_107240	14	62211430:62211531:62212408:62212535:62213651:62214190	62212408:62212535	ENSG00000100644.12	ENST00000539097.1,ENST00000337138.4,ENST00000394997.1,ENST00000557538.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for HIF1A

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_107187	14	62162494:62162557:62187096:62187290:62188226:62188372	62187096:62187290	ENSG00000100644.12	ENST00000394997.1
exon_skip_107188	14	62162494:62162557:62187099:62187290:62188226:62188372	62187099:62187290	ENSG00000100644.12	ENST00000337138.4,ENST00000323441.6
exon_skip_107192	14	62188226:62188372:62188456:62188541:62193423:62193481	62188456:62188541	ENSG00000100644.12	ENST00000553999.1,ENST00000337138.4,ENST00000394997.1,ENST00000323441.6,ENST00000557538.1,ENST00000539097.1,ENST00000557206.1
exon_skip_107198	14	62193423:62193536:62194170:62194373:62199135:62199242	62194170:62194373	ENSG00000100644.12	ENST00000337138.4,ENST00000394997.1,ENST00000323441.6,ENST00000557538.1,ENST00000539097.1
exon_skip_107200	14	62194170:62194373:62199135:62199242:62200855:62201003	62199135:62199242	ENSG00000100644.12	ENST00000337138.4,ENST00000394997.1,ENST00000323441.6,ENST00000557538.1,ENST00000539097.1
exon_skip_107202	14	62203650:62203827:62204804:62205091:62207222:62207345	62204804:62205091	ENSG00000100644.12	ENST00000337138.4,ENST00000394997.1,ENST00000323441.6,ENST00000557538.1,ENST00000539097.1
exon_skip_107211	14	62203607:62203827:62207260:62207345:62207472:62207616	62207260:62207345	ENSG00000100644.12	ENST00000555014.1
exon_skip_107215	14	62204810:62205091:62207222:62207345:62207472:62207616	62207222:62207345	ENSG00000100644.12	ENST00000337138.4,ENST00000394997.1,ENST00000323441.6,ENST00000557538.1,ENST00000539097.1
exon_skip_107230	14	62207260:62207345:62207472:62207906:62211422:62211531	62207472:62207906	ENSG00000100644.12	ENST00000337138.4,ENST00000394997.1,ENST00000323441.6,ENST00000557538.1,ENST00000539097.1
exon_skip_107234	14	62207472:62207906:62211422:62211531:62212408:62212535	62211422:62211531	ENSG00000100644.12	ENST00000337138.4,ENST00000394997.1,ENST00000557538.1,ENST00000539097.1
exon_skip_107235	14	62207472:62207906:62211422:62211531:62213651:62214190	62211422:62211531	ENSG00000100644.12	ENST00000323441.6
exon_skip_107240	14	62211430:62211531:62212408:62212535:62213651:62214190	62212408:62212535	ENSG00000100644.12	ENST00000337138.4,ENST00000394997.1,ENST00000557538.1,ENST00000539097.1

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 HIF1A

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
ENST00000337138	62187099	62187290	Frame-shift
ENST00000337138	62188456	62188541	Frame-shift
ENST00000337138	62194170	62194373	Frame-shift
ENST00000337138	62199135	62199242	Frame-shift
ENST00000337138	62204804	62205091	Frame-shift
ENST00000337138	62207472	62207906	Frame-shift
ENST00000337138	62211422	62211531	Frame-shift
ENST00000337138	62212408	62212535	Frame-shift
ENST00000337138	62207222	62207345	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
ENST00000337138	62187099	62187290	Frame-shift
ENST00000337138	62188456	62188541	Frame-shift
ENST00000337138	62194170	62194373	Frame-shift
ENST00000337138	62199135	62199242	Frame-shift
ENST00000337138	62204804	62205091	Frame-shift
ENST00000337138	62207472	62207906	Frame-shift
ENST00000337138	62211422	62211531	Frame-shift
ENST00000337138	62212408	62212535	Frame-shift
ENST00000337138	62207222	62207345	In-frame

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Infer the effects of exon skipping event on protein functional features for HIF1A

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
ENST00000337138	3936	826	62207222	62207345	1802	1924	512	553

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
ENST00000337138	3936	826	62207222	62207345	1802	1924	512	553

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
Q16665	512	553	1	826	Chain	ID=PRO_0000127220;Note=Hypoxia-inducible factor 1-alpha
Q16665	512	553	532	532	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:16862177;Dbxref=PMID:16862177
Q16665	512	553	538	538	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:16862177;Dbxref=PMID:16862177
Q16665	512	553	547	547	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:16862177;Dbxref=PMID:16862177
Q16665	512	553	532	532	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24681946;Dbxref=PMID:24681946
Q16665	512	553	551	551	Modified residue	Note=Phosphoserine%3B by GSK3-beta;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20889502;Dbxref=PMID:20889502
Q16665	512	553	532	532	Mutagenesis	Note=Reduced ubiquitination. No change in sumoylation nor on interaction with ARD1A. No change in HIF1A protein turnover rate but increased transcriptional activity%3B when associated with R-377%3B R-391 and R-477. Complete loss of ubiquitination%2C but n
Q16665	512	553	538	538	Mutagenesis	Note=No change in sumoylation%2C but reduced ubiquitination. Complete loss of ubiquitination%2C but no change in VHL binding%3B when associated with K-532 and K-547. K->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:109441
Q16665	512	553	547	547	Mutagenesis	Note=No change in sumoylation%2C but reduced ubiquitination. Complete loss of ubiquitination%2C but no change in VHL binding%3B when associated with K-532 and K-538. K->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:109441
Q16665	512	553	551	551	Mutagenesis	Note=Constitutive expression under nonhypoxic conditions by decreasing ubiquitination. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10758161;Dbxref=PMID:10758161
Q16665	512	553	552	552	Mutagenesis	Note=Constitutive expression under nonhypoxic conditions by decreasing ubiquitination. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10758161;Dbxref=PMID:10758161
Q16665	512	553	401	603	Region	Note=ODD
Q16665	512	553	531	575	Region	Note=NTAD

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
Q16665	512	553	1	826	Chain	ID=PRO_0000127220;Note=Hypoxia-inducible factor 1-alpha
Q16665	512	553	532	532	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:16862177;Dbxref=PMID:16862177
Q16665	512	553	538	538	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:16862177;Dbxref=PMID:16862177
Q16665	512	553	547	547	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:16862177;Dbxref=PMID:16862177
Q16665	512	553	532	532	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24681946;Dbxref=PMID:24681946
Q16665	512	553	551	551	Modified residue	Note=Phosphoserine%3B by GSK3-beta;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20889502;Dbxref=PMID:20889502
Q16665	512	553	532	532	Mutagenesis	Note=Reduced ubiquitination. No change in sumoylation nor on interaction with ARD1A. No change in HIF1A protein turnover rate but increased transcriptional activity%3B when associated with R-377%3B R-391 and R-477. Complete loss of ubiquitination%2C but n
Q16665	512	553	538	538	Mutagenesis	Note=No change in sumoylation%2C but reduced ubiquitination. Complete loss of ubiquitination%2C but no change in VHL binding%3B when associated with K-532 and K-547. K->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:109441
Q16665	512	553	547	547	Mutagenesis	Note=No change in sumoylation%2C but reduced ubiquitination. Complete loss of ubiquitination%2C but no change in VHL binding%3B when associated with K-532 and K-538. K->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:109441
Q16665	512	553	551	551	Mutagenesis	Note=Constitutive expression under nonhypoxic conditions by decreasing ubiquitination. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10758161;Dbxref=PMID:10758161
Q16665	512	553	552	552	Mutagenesis	Note=Constitutive expression under nonhypoxic conditions by decreasing ubiquitination. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10758161;Dbxref=PMID:10758161
Q16665	512	553	401	603	Region	Note=ODD
Q16665	512	553	531	575	Region	Note=NTAD

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SNVs in the skipped exons for HIF1A

- 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.

HIF1A_COAD_exon_skip_107202_psi_boxplot.png
boxplot

HIF1A_STAD_exon_skip_107215_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
LUAD	TCGA-MP-A5C7-01	exon_skip_107187 exon_skip_107188	62187097	62187290	62187197	62187197	Frame_Shift_Del	C	-	p.P46fs
LUAD	TCGA-MP-A5C7-01		62187100	62187290	62187197	62187197	Frame_Shift_Del	C	-	p.P46fs
KIRP	TCGA-P4-A5E8-01	exon_skip_107198	62194171	62194373	62194216	62194223	Frame_Shift_Del	AACCAACC	-	p.205_208del
KIRP	TCGA-P4-A5E8-01	exon_skip_107198	62194171	62194373	62194216	62194223	Frame_Shift_Del	AACCAACC	-	p.229_232del
KIRP	TCGA-P4-A5E8-01	exon_skip_107198	62194171	62194373	62194216	62194223	Frame_Shift_Del	AACCAACC	-	p.N206fs
KIRP	TCGA-P4-A5E8-01	exon_skip_107198	62194171	62194373	62194216	62194225	Frame_Shift_Del	AACCAACCTC	-	p.205_208del
KIRP	TCGA-P4-A5E8-01	exon_skip_107198	62194171	62194373	62194216	62194225	Frame_Shift_Del	AACCAACCTC	-	p.229_232del
KIRP	TCGA-P4-A5E8-01	exon_skip_107198	62194171	62194373	62194225	62194225	Frame_Shift_Del	C	-	p.P208fs
KIRP	TCGA-P4-A5E8-01	exon_skip_107198	62194171	62194373	62194225	62194225	Frame_Shift_Del	C	-	p.P232fs
KIRP	TCGA-P4-A5E8-01	exon_skip_107198	62194171	62194373	62194225	62194225	Frame_Shift_Del	C	-	p.Q209fs
LIHC	TCGA-DD-A39Y-01	exon_skip_107200	62199136	62199242	62199205	62199205	Frame_Shift_Del	T	-	p.A282fs
LIHC	TCGA-DD-A39Y-01	exon_skip_107230	62207473	62207906	62207855	62207855	Frame_Shift_Del	A	-	p.E682fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_107230	62207473	62207906	62207855	62207855	Frame_Shift_Del	A	-	p.E682fs
LIHC	TCGA-DD-A1EG-01	exon_skip_107234 exon_skip_107235	62211423	62211531	62211489	62211489	Frame_Shift_Del	A	-	p.R721fs
LIHC	TCGA-DD-A39Y-01	exon_skip_107234 exon_skip_107235	62211423	62211531	62211512	62211512	Frame_Shift_Del	T	-	p.L729fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_107240	62212409	62212535	62212455	62212455	Frame_Shift_Del	T	-	p.L751fs
KIRC	TCGA-BP-4986-01	exon_skip_107240	62212409	62212535	62212466	62212466	Frame_Shift_Del	C	-	p.K777fs
KIRC	TCGA-BP-4986-01	exon_skip_107240	62212409	62212535	62212466	62212466	Frame_Shift_Del	C	-	p.R755fs
LIHC	TCGA-DD-A39Y-01	exon_skip_107240	62212409	62212535	62212471	62212471	Frame_Shift_Del	A	-	p.V756fs
COAD	TCGA-CM-6674-01	exon_skip_107187 exon_skip_107188	62187097	62187290	62187170	62187171	Frame_Shift_Ins	-	T	p.V36fs
COAD	TCGA-CM-6674-01		62187100	62187290	62187170	62187171	Frame_Shift_Ins	-	T	p.V36fs
READ	TCGA-EI-6917-01	exon_skip_107187 exon_skip_107188	62187097	62187290	62187122	62187122	Nonsense_Mutation	G	T	p.E20X
READ	TCGA-EI-6917-01		62187100	62187290	62187122	62187122	Nonsense_Mutation	G	T	p.E20X
UCEC	TCGA-D1-A101-01	exon_skip_107187 exon_skip_107188	62187097	62187290	62187131	62187131	Nonsense_Mutation	C	T	p.R23*
UCEC	TCGA-D1-A101-01		62187100	62187290	62187131	62187131	Nonsense_Mutation	C	T	p.R23*
READ	TCGA-AG-A002-01	exon_skip_107187 exon_skip_107188	62187097	62187290	62187161	62187161	Nonsense_Mutation	G	T	p.E57X
READ	TCGA-AG-A002-01		62187100	62187290	62187161	62187161	Nonsense_Mutation	G	T	p.E57X
THYM	TCGA-XM-A8R8-01	exon_skip_107192	62188457	62188541	62188460	62188460	Nonsense_Mutation	G	T	p.E150X
COAD	TCGA-CA-6718-01	exon_skip_107200	62199136	62199242	62199167	62199167	Nonsense_Mutation	G	T	p.E269X
LUAD	TCGA-50-5933-01	exon_skip_107200	62199136	62199242	62199167	62199167	Nonsense_Mutation	G	T	p.E269*
LUAD	TCGA-50-5933-01	exon_skip_107200	62199136	62199242	62199167	62199167	Nonsense_Mutation	G	T	p.E270*
COAD	TCGA-CA-6717-01	exon_skip_107202	62204805	62205091	62204876	62204876	Nonsense_Mutation	G	T	p.E441X
BLCA	TCGA-KQ-A41P-01	exon_skip_107202	62204805	62205091	62204942	62204942	Nonsense_Mutation	C	T	p.R464*
UCEC	TCGA-D1-A17Q-01	exon_skip_107234 exon_skip_107235	62211423	62211531	62211442	62211442	Nonsense_Mutation	G	T	p.E705*
SKCM	TCGA-D9-A3Z4-01	exon_skip_107234 exon_skip_107235	62211423	62211531	62211509	62211509	Nonsense_Mutation	C	G	p.S727X
STAD	TCGA-BR-8680-01	exon_skip_107215 exon_skip_107211	62207223	62207345	62207347	62207347	Splice_Site	T	C	.
STAD	TCGA-BR-8680-01	exon_skip_107215 exon_skip_107211	62207223	62207345	62207347	62207347	Splice_Site	T	C	p.Q553_splice
STAD	TCGA-BR-8680-01	exon_skip_107215 exon_skip_107211	62207261	62207345	62207347	62207347	Splice_Site	T	C	.
STAD	TCGA-BR-8680-01	exon_skip_107215 exon_skip_107211	62207261	62207345	62207347	62207347	Splice_Site	T	C	p.Q553_splice
KIRC	TCGA-CJ-4918-01	exon_skip_107234 exon_skip_107235	62211423	62211531	62211422	62211422	Splice_Site	G	C	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-BR-8680-01
	Cancer type: STAD
	ESID: exon_skip_107211
	Skipped exon start: 62207223
	Skipped exon end: 62207345
	Mutation start: 62207347
	Mutation end: 62207347
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: C
	AAchange: .
	Sample: TCGA-BR-8680-01
	Cancer type: STAD
	ESID: exon_skip_107211
	Skipped exon start: 62207261
	Skipped exon end: 62207345
	Mutation start: 62207347
	Mutation end: 62207347
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: C
	AAchange: .
	Sample: TCGA-BR-8680-01
	Cancer type: STAD
	ESID: exon_skip_107211
	Skipped exon start: 62207223
	Skipped exon end: 62207345
	Mutation start: 62207347
	Mutation end: 62207347
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: C
	AAchange: p.Q553_splice
	Sample: TCGA-BR-8680-01
	Cancer type: STAD
	ESID: exon_skip_107211
	Skipped exon start: 62207261
	Skipped exon end: 62207345
	Mutation start: 62207347
	Mutation end: 62207347
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: C
	AAchange: p.Q553_splice
exon_skip_106946_STAD_TCGA-BR-8680-01.png
exon_skip_107215_STAD_TCGA-BR-8680-01.png
exon_skip_122567_STAD_TCGA-BR-8680-01.png
exon_skip_122573_STAD_TCGA-BR-8680-01.png
exon_skip_144294_STAD_TCGA-BR-8680-01.png
exon_skip_26878_STAD_TCGA-BR-8680-01.png
exon_skip_30156_STAD_TCGA-BR-8680-01.png
exon_skip_324648_STAD_TCGA-BR-8680-01.png
exon_skip_326437_STAD_TCGA-BR-8680-01.png
exon_skip_326558_STAD_TCGA-BR-8680-01.png
exon_skip_326569_STAD_TCGA-BR-8680-01.png
exon_skip_328488_STAD_TCGA-BR-8680-01.png
exon_skip_335090_STAD_TCGA-BR-8680-01.png
exon_skip_389166_STAD_TCGA-BR-8680-01.png
exon_skip_40432_STAD_TCGA-BR-8680-01.png
exon_skip_40460_STAD_TCGA-BR-8680-01.png
exon_skip_40461_STAD_TCGA-BR-8680-01.png
exon_skip_436498_STAD_TCGA-BR-8680-01.png
exon_skip_466512_STAD_TCGA-BR-8680-01.png
exon_skip_478774_STAD_TCGA-BR-8680-01.png
exon_skip_484956_STAD_TCGA-BR-8680-01.png
exon_skip_64135_STAD_TCGA-BR-8680-01.png
exon_skip_64136_STAD_TCGA-BR-8680-01.png
exon_skip_64137_STAD_TCGA-BR-8680-01.png
exon_skip_69365_STAD_TCGA-BR-8680-01.png
exon_skip_69375_STAD_TCGA-BR-8680-01.png
exon_skip_75101_STAD_TCGA-BR-8680-01.png
	Sample: TCGA-CA-6717-01
	Cancer type: COAD
	ESID: exon_skip_107202
	Skipped exon start: 62204805
	Skipped exon end: 62205091
	Mutation start: 62204876
	Mutation end: 62204876
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.E441X
exon_skip_107202_COAD_TCGA-CA-6717-01.png
exon_skip_135085_COAD_TCGA-CA-6717-01.png
exon_skip_284772_COAD_TCGA-CA-6717-01.png
exon_skip_28826_COAD_TCGA-CA-6717-01.png
exon_skip_304901_COAD_TCGA-CA-6717-01.png
exon_skip_430052_COAD_TCGA-CA-6717-01.png
exon_skip_430053_COAD_TCGA-CA-6717-01.png
exon_skip_433462_COAD_TCGA-CA-6717-01.png
exon_skip_439050_COAD_TCGA-CA-6717-01.png
exon_skip_482455_COAD_TCGA-CA-6717-01.png
exon_skip_503414_COAD_TCGA-CA-6717-01.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
HEC59_ENDOMETRIUM	62187097	62187290	62187171	62187171	Frame_Shift_Del	T	-	p.V36fs
HEC59_ENDOMETRIUM	62187100	62187290	62187171	62187171	Frame_Shift_Del	T	-	p.V36fs
NCIH1092_LUNG	62207473	62207906	62207796	62207796	Frame_Shift_Del	T	-	p.D661fs
BICR18_UPPER_AERODIGESTIVE_TRACT	62187097	62187290	62187103	62187103	Missense_Mutation	A	G	p.I13M
BICR18_UPPER_AERODIGESTIVE_TRACT	62187100	62187290	62187103	62187103	Missense_Mutation	A	G	p.I13M
KYSE140_OESOPHAGUS	62187097	62187290	62187147	62187147	Missense_Mutation	C	A	p.S28Y
KYSE140_OESOPHAGUS	62187100	62187290	62187147	62187147	Missense_Mutation	C	A	p.S28Y
MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62187097	62187290	62187147	62187147	Missense_Mutation	C	A	p.S28Y
MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62187100	62187290	62187147	62187147	Missense_Mutation	C	A	p.S28Y
KYSE450_OESOPHAGUS	62187097	62187290	62187147	62187147	Missense_Mutation	C	A	p.S28Y
KYSE450_OESOPHAGUS	62187100	62187290	62187147	62187147	Missense_Mutation	C	A	p.S28Y
GB1_CENTRAL_NERVOUS_SYSTEM	62187097	62187290	62187147	62187147	Missense_Mutation	C	A	p.S28Y
GB1_CENTRAL_NERVOUS_SYSTEM	62187100	62187290	62187147	62187147	Missense_Mutation	C	A	p.S28Y
NCIH524_LUNG	62187097	62187290	62187165	62187165	Missense_Mutation	C	A	p.S34Y
NCIH524_LUNG	62187100	62187290	62187165	62187165	Missense_Mutation	C	A	p.S34Y
FTC133_THYROID	62187097	62187290	62187198	62187198	Missense_Mutation	C	A	p.P45Q
FTC133_THYROID	62187100	62187290	62187198	62187198	Missense_Mutation	C	A	p.P45Q
OVK18_OVARY	62187097	62187290	62187237	62187237	Missense_Mutation	C	T	p.S58F
OVK18_OVARY	62187100	62187290	62187237	62187237	Missense_Mutation	C	T	p.S58F
SH4_SKIN	62194171	62194373	62194193	62194193	Missense_Mutation	T	A	p.I198N
COLO679_SKIN	62194171	62194373	62194306	62194306	Missense_Mutation	C	T	p.P236S
SNU1040_LARGE_INTESTINE	62199136	62199242	62199143	62199143	Missense_Mutation	G	A	p.E261K
HEC108_ENDOMETRIUM	62199136	62199242	62199156	62199156	Missense_Mutation	A	G	p.Y265C
LB1047EBV_MATCHED_NORMAL_TISSUE	62199136	62199242	62199180	62199180	Missense_Mutation	G	A	p.R273H
LB1047RCC_KIDNEY	62199136	62199242	62199180	62199180	Missense_Mutation	G	A	p.R273H
OVTOKO_OVARY	62199136	62199242	62199185	62199185	Missense_Mutation	A	G	p.I275V
CAL27_UPPER_AERODIGESTIVE_TRACT	62199136	62199242	62199209	62199209	Missense_Mutation	G	C	p.D283H
MFE319_ENDOMETRIUM	62204805	62205091	62204844	62204844	Missense_Mutation	T	C	p.L430S
EN_ENDOMETRIUM	62204805	62205091	62204883	62204883	Missense_Mutation	T	C	p.L443S
SNU478_BILIARY_TRACT	62204805	62205091	62204909	62204909	Missense_Mutation	C	T	p.P452S
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62204805	62205091	62204943	62204943	Missense_Mutation	G	A	p.R463Q
RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62204805	62205091	62204949	62204949	Missense_Mutation	G	C	p.S465T
SNU1040_LARGE_INTESTINE	62204805	62205091	62204961	62204961	Missense_Mutation	C	T	p.A469V
EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62207223	62207345	62207266	62207266	Missense_Mutation	T	C	p.M527T
EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62207261	62207345	62207266	62207266	Missense_Mutation	T	C	p.M527T
GP2D_LARGE_INTESTINE	62207223	62207345	62207293	62207293	Missense_Mutation	T	C	p.V536A
GP2D_LARGE_INTESTINE	62207261	62207345	62207293	62207293	Missense_Mutation	T	C	p.V536A
GP5D_LARGE_INTESTINE	62207223	62207345	62207293	62207293	Missense_Mutation	T	C	p.V536A
GP5D_LARGE_INTESTINE	62207261	62207345	62207293	62207293	Missense_Mutation	T	C	p.V536A
ESS1_ENDOMETRIUM	62207223	62207345	62207302	62207302	Missense_Mutation	T	G	p.L539R
ESS1_ENDOMETRIUM	62207261	62207345	62207302	62207302	Missense_Mutation	T	G	p.L539R
HEC251_ENDOMETRIUM	62207223	62207345	62207327	62207327	Missense_Mutation	G	T	p.K547N
HEC251_ENDOMETRIUM	62207261	62207345	62207327	62207327	Missense_Mutation	G	T	p.K547N
MFHINO_SOFT_TISSUE	62207473	62207906	62207590	62207590	Missense_Mutation	G	C	p.A593P
NB17_AUTONOMIC_GANGLIA	62207473	62207906	62207679	62207679	Missense_Mutation	T	G	p.D622E
KMH2_THYROID	62207473	62207906	62207704	62207705	Missense_Mutation	CG	TC	p.R631S
SNU283_LARGE_INTESTINE	62207473	62207906	62207705	62207705	Missense_Mutation	G	A	p.R631H
NCIH187_LUNG	62207473	62207906	62207705	62207705	Missense_Mutation	G	A	p.R631H
SNU1040_LARGE_INTESTINE	62207473	62207906	62207709	62207709	Missense_Mutation	G	A	p.M632I
PC3_PROSTATE	62207473	62207906	62207788	62207788	Missense_Mutation	T	A	p.Y659N
PC3JPC3_LUNG	62207473	62207906	62207788	62207788	Missense_Mutation	T	A	p.Y659N
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62207473	62207906	62207825	62207825	Missense_Mutation	G	A	p.R671K
HN_UPPER_AERODIGESTIVE_TRACT	62207473	62207906	62207835	62207835	Missense_Mutation	A	T	p.K674N
NCIH446_LUNG	62207473	62207906	62207842	62207842	Missense_Mutation	A	G	p.I677V
NCIH1304_LUNG	62207473	62207906	62207866	62207866	Missense_Mutation	C	T	p.P685S
NCIH2009_LUNG	62207473	62207906	62207902	62207902	Missense_Mutation	C	G	p.Q697E
647V_URINARY_TRACT	62211423	62211531	62211433	62211433	Missense_Mutation	C	A	p.P702T
MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62211423	62211531	62211506	62211506	Missense_Mutation	G	A	p.G726D
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62212409	62212535	62212437	62212437	Missense_Mutation	A	G	p.H744R
HEC6_ENDOMETRIUM	62212409	62212535	62212466	62212466	Missense_Mutation	C	T	p.R754C
HEC251_ENDOMETRIUM	62212409	62212535	62212467	62212467	Missense_Mutation	G	A	p.R754H
2313287_STOMACH	62212409	62212535	62212482	62212482	Missense_Mutation	A	C	p.K759T
RERFLCAD2_LUNG	62212409	62212535	62212520	62212520	Missense_Mutation	A	G	p.I772V
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62188457	62188541	62188510	62188511	Nonsense_Mutation	GG	TT	p.142_143EE>D*
NCIH441_LUNG	62194171	62194373	62194292	62194292	Nonsense_Mutation	C	G	p.S231*
SUIT2_PANCREAS	62204805	62205091	62204942	62204942	Nonsense_Mutation	C	T	p.R463*
WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62204805	62205091	62205077	62205077	Nonsense_Mutation	C	T	p.Q508*
HCC2998_LARGE_INTESTINE	62207473	62207906	62207638	62207638	Nonsense_Mutation	G	T	p.E609*
HT55_LARGE_INTESTINE	62204805	62205091	62205090	62205090	Splice_Site	A	T	p.E512V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HIF1A

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 HIF1A

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HIF1A

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RelatedDrugs for HIF1A

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
	Q16665	DB01136	Carvedilol	Hypoxia-inducible factor 1-alpha {ECO:0000303\|PubMed:7539918}	small molecule	approved\|investigational

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RelatedDiseases for HIF1A

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
HIF1A	C0027055	Myocardial Reperfusion Injury	2	CTD_human
HIF1A	C0002793	Anaplasia	1	CTD_human
HIF1A	C0004114	Astrocytoma	1	CTD_human
HIF1A	C0005586	Bipolar Disorder	1	PSYGENET
HIF1A	C0007124	Noninfiltrating Intraductal Carcinoma	1	CTD_human
HIF1A	C0007786	Brain Ischemia	1	CTD_human
HIF1A	C0008313	Cholangitis, Sclerosing	1	CTD_human
HIF1A	C0011570	Mental Depression	1	PSYGENET
HIF1A	C0017636	Glioblastoma	1	CTD_human
HIF1A	C0018798	Congenital Heart Defects	1	CTD_human
HIF1A	C0018800	Cardiomegaly	1	CTD_human
HIF1A	C0018801	Heart failure	1	CTD_human
HIF1A	C0020507	Hyperplasia	1	CTD_human
HIF1A	C0020538	Hypertensive disease	1	CTD_human
HIF1A	C0020542	Pulmonary Hypertension	1	CTD_human
HIF1A	C0023892	Biliary cirrhosis	1	CTD_human
HIF1A	C0024115	Lung diseases	1	CTD_human
HIF1A	C0027626	Neoplasm Invasiveness	1	CTD_human
HIF1A	C0030297	Pancreatic Neoplasm	1	CTD_human
HIF1A	C0033578	Prostatic Neoplasms	1	CTD_human
HIF1A	C0037286	Skin Neoplasms	1	CTD_human
HIF1A	C0040136	Thyroid Neoplasm	1	CTD_human
HIF1A	C0041696	Unipolar Depression	1	PSYGENET
HIF1A	C0206734	Hemangioblastoma	1	CTD_human
HIF1A	C0279626	Squamous cell carcinoma of esophagus	1	CTD_human
HIF1A	C0342257	Complications of Diabetes Mellitus	1	CTD_human
HIF1A	C0525045	Mood Disorders	1	PSYGENET
HIF1A	C0752308	Hypoxia-Ischemia, Brain	1	CTD_human
HIF1A	C1176475	Ductal Carcinoma	1	CTD_human
HIF1A	C1269683	Major Depressive Disorder	1	PSYGENET
HIF1A	C1449861	Micronuclei, Chromosome-Defective	1	CTD_human
HIF1A	C1458155	Mammary Neoplasms	1	CTD_human

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

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