ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for HKR1

Gene summary

Gene information	Gene symbol	HKR1
	Gene ID	284459
	Gene name	HKR1, GLI-Kruppel zinc finger family member
	Synonyms	ZNF875
	Cytomap	19q13.12
	Type of gene	protein-coding
	Description	Krueppel-related zinc finger protein 1oncogene HKR1zinc finger protein 875
	Modification date	20180523
	UniProtAcc	P10072
	Context	PubMed: HKR1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

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

Gene

GO ID

GO term

PubMed ID

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Exon skipping events across known transcript of Ensembl for HKR1 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 HKR1

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 HKR1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_306273	19	37808940:37809088:37813086:37813134:37814434:37814472	37813086:37813134	ENSG00000181666.13	ENST00000589801.1,ENST00000591485.1,ENST00000587829.1,ENST00000589218.1,ENST00000544914.1,ENST00000592362.1
exon_skip_306285	19	37815109:37815167:37815697:37815838:37838091:37838098	37815697:37815838	ENSG00000181666.13	ENST00000592362.1,ENST00000591471.1
exon_skip_306302	19	37815109:37815167:37835835:37835923:37838091:37838098	37835835:37835923	ENSG00000181666.13	ENST00000587829.1
exon_skip_306305	19	37815109:37815167:37838091:37838218:37838678:37838709	37838091:37838218	ENSG00000181666.13	ENST00000589188.1
exon_skip_306310	19	37815109:37815167:37838678:37838774:37853010:37853048	37838678:37838774	ENSG00000181666.13	ENST00000544914.1
exon_skip_306317	19	37815697:37815838:37838091:37838218:37838678:37838709	37838091:37838218	ENSG00000181666.13	ENST00000591471.1
exon_skip_306320	19	37825613:37825684:37826070:37826159:37837324:37837394	37826070:37826159	ENSG00000181666.13	ENST00000585623.1
exon_skip_306321	19	37825613:37825684:37826070:37826159:37838091:37838098	37826070:37826159	ENSG00000181666.13	ENST00000392153.3,ENST00000591259.1
exon_skip_306322	19	37825613:37825684:37826070:37826159:37838133:37838218	37826070:37826159	ENSG00000181666.13	ENST00000591391.1
exon_skip_306325	19	37825613:37825684:37826101:37826159:37838091:37838098	37826101:37826159	ENSG00000181666.13	ENST00000589392.1
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENSG00000181666.13	ENST00000592168.1
exon_skip_306330	19	37825613:37825684:37838091:37838218:37838678:37838709	37838091:37838218	ENSG00000181666.13	ENST00000592768.1,ENST00000591417.1
exon_skip_306333	19	37826101:37826159:37835511:37835676:37838091:37838098	37835511:37835676	ENSG00000181666.13	ENST00000324411.4
exon_skip_306334	19	37826101:37826159:37835835:37835923:37837324:37837394	37835835:37835923	ENSG00000181666.13	ENST00000590386.1
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENSG00000181666.13	ENST00000585623.1
exon_skip_306338	19	37826070:37826159:37837789:37837954:37838091:37838218	37837789:37837954	ENSG00000181666.13	ENST00000587437.1
exon_skip_306340	19	37826101:37826159:37838091:37838218:37838678:37838709	37838091:37838218	ENSG00000181666.13	ENST00000392153.3,ENST00000591259.1,ENST00000589392.1
exon_skip_306341	19	37826101:37826159:37838133:37838218:37838678:37838709	37838133:37838218	ENSG00000181666.13	ENST00000591391.1
exon_skip_306347	19	37838678:37838774:37848863:37848941:37849442:37849563	37848863:37848941	ENSG00000181666.13	ENST00000591471.1
exon_skip_306350	19	37838678:37838774:37848863:37848941:37853007:37853076	37848863:37848941	ENSG00000181666.13	ENST00000592168.1,ENST00000590570.1
exon_skip_306354	19	37838678:37838774:37849442:37849563:37853010:37853048	37849442:37849563	ENSG00000181666.13	ENST00000586897.1
exon_skip_306357	19	37838678:37838774:37850327:37850448:37853010:37853048	37850327:37850448	ENSG00000181666.13	ENST00000591417.1
exon_skip_306360	19	37848863:37848941:37849442:37849563:37853010:37853048	37849442:37849563	ENSG00000181666.13	ENST00000591471.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for HKR1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_306273	19	37808940:37809088:37813086:37813134:37814434:37814472	37813086:37813134	ENSG00000181666.13	ENST00000589218.1,ENST00000592362.1,ENST00000544914.1,ENST00000587829.1,ENST00000591485.1,ENST00000589801.1
exon_skip_306285	19	37815109:37815167:37815697:37815838:37838091:37838098	37815697:37815838	ENSG00000181666.13	ENST00000591471.1,ENST00000592362.1
exon_skip_306302	19	37815109:37815167:37835835:37835923:37838091:37838098	37835835:37835923	ENSG00000181666.13	ENST00000587829.1
exon_skip_306305	19	37815109:37815167:37838091:37838218:37838678:37838709	37838091:37838218	ENSG00000181666.13	ENST00000589188.1
exon_skip_306310	19	37815109:37815167:37838678:37838774:37853010:37853048	37838678:37838774	ENSG00000181666.13	ENST00000544914.1
exon_skip_306317	19	37815697:37815838:37838091:37838218:37838678:37838709	37838091:37838218	ENSG00000181666.13	ENST00000591471.1
exon_skip_306320	19	37825613:37825684:37826070:37826159:37837324:37837394	37826070:37826159	ENSG00000181666.13	ENST00000585623.1
exon_skip_306321	19	37825613:37825684:37826070:37826159:37838091:37838098	37826070:37826159	ENSG00000181666.13	ENST00000392153.3,ENST00000591259.1
exon_skip_306322	19	37825613:37825684:37826070:37826159:37838133:37838218	37826070:37826159	ENSG00000181666.13	ENST00000591391.1
exon_skip_306325	19	37825613:37825684:37826101:37826159:37838091:37838098	37826101:37826159	ENSG00000181666.13	ENST00000589392.1
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENSG00000181666.13	ENST00000592168.1
exon_skip_306330	19	37825613:37825684:37838091:37838218:37838678:37838709	37838091:37838218	ENSG00000181666.13	ENST00000592768.1,ENST00000591417.1
exon_skip_306333	19	37826101:37826159:37835511:37835676:37838091:37838098	37835511:37835676	ENSG00000181666.13	ENST00000324411.4
exon_skip_306334	19	37826101:37826159:37835835:37835923:37837324:37837394	37835835:37835923	ENSG00000181666.13	ENST00000590386.1
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENSG00000181666.13	ENST00000585623.1
exon_skip_306338	19	37826070:37826159:37837789:37837954:37838091:37838218	37837789:37837954	ENSG00000181666.13	ENST00000587437.1
exon_skip_306340	19	37826101:37826159:37838091:37838218:37838678:37838709	37838091:37838218	ENSG00000181666.13	ENST00000392153.3,ENST00000589392.1,ENST00000591259.1
exon_skip_306341	19	37826101:37826159:37838133:37838218:37838678:37838709	37838133:37838218	ENSG00000181666.13	ENST00000591391.1
exon_skip_306347	19	37838678:37838774:37848863:37848941:37849442:37849563	37848863:37848941	ENSG00000181666.13	ENST00000591471.1
exon_skip_306350	19	37838678:37838774:37848863:37848941:37853007:37853076	37848863:37848941	ENSG00000181666.13	ENST00000592168.1,ENST00000590570.1
exon_skip_306354	19	37838678:37838774:37849442:37849563:37853010:37853048	37849442:37849563	ENSG00000181666.13	ENST00000586897.1
exon_skip_306357	19	37838678:37838774:37850327:37850448:37853010:37853048	37850327:37850448	ENSG00000181666.13	ENST00000591417.1
exon_skip_306360	19	37848863:37848941:37849442:37849563:37853010:37853048	37849442:37849563	ENSG00000181666.13	ENST00000591471.1

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 HKR1

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
ENST00000324411	37835511	37835676	5CDS-5UTR

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
ENST00000324411	37835511	37835676	5CDS-5UTR

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Infer the effects of exon skipping event on protein functional features for HKR1

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

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

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

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

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SNVs in the skipped exons for HKR1

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
SKCM	TCGA-WE-A8K5-06	exon_skip_306310	37838679	37838774	37838737	37838737	Nonsense_Mutation	G	A	p.W92*

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

Depth of coverage in three exons

Mutation description

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
SW1271_LUNG	37838092	37838218	37838165	37838165	Frame_Shift_Del	G	-	p.R55fs
SW1271_LUNG	37838134	37838218	37838165	37838165	Frame_Shift_Del	G	-	p.R55fs
ML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	37838679	37838774	37838693	37838693	Frame_Shift_Del	A	-	p.K78fs
SNU245_BILIARY_TRACT	37835512	37835676	37835621	37835621	Missense_Mutation	C	A	p.P12H
SISO_CERVIX	37838092	37838218	37838098	37838098	Missense_Mutation	G	A	p.V33M
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	37838092	37838218	37838098	37838098	Missense_Mutation	G	A	p.V33M
NCIH2444_LUNG	37838092	37838218	37838165	37838165	Missense_Mutation	G	T	p.R55M
NCIH2444_LUNG	37838134	37838218	37838165	37838165	Missense_Mutation	G	T	p.R55M
NCIH727_LUNG	37838092	37838218	37838187	37838187	Missense_Mutation	G	C	p.M62I
NCIH727_LUNG	37838134	37838218	37838187	37838187	Missense_Mutation	G	C	p.M62I
JHUEM7_ENDOMETRIUM	37838092	37838218	37838188	37838188	Missense_Mutation	C	A	p.L63M
JHUEM7_ENDOMETRIUM	37838134	37838218	37838188	37838188	Missense_Mutation	C	A	p.L63M
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	37838679	37838774	37838697	37838697	Missense_Mutation	C	A	p.P79Q
EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	37835512	37835676	37835628	37835628	Nonsense_Mutation	C	A	p.C14*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HKR1

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_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	COAD	rs73025481	chr19:37837339	G/A	5.52e-04
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	HNSC	rs73025481	chr19:37837339	G/A	2.45e-03
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	BRCA	rs73025481	chr19:37837339	G/A	1.99e-11
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	BRCA	rs73025481	chr19:37837339	G/A	7.21e-07
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	BRCA	rs73025481	chr19:37837339	G/A	3.83e-03
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	LGG	rs73025481	chr19:37837339	G/A	3.71e-05
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	LGG	rs73025481	chr19:37837339	G/A	1.90e-03
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	KIRC	rs73025481	chr19:37837339	G/A	4.84e-11
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	KIRC	rs73025481	chr19:37837339	G/A	4.89e-05
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	LUAD	rs73025481	chr19:37837339	G/A	5.93e-05
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	LUAD	rs73025481	chr19:37837339	G/A	6.03e-04
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	OV	rs73025481	chr19:37837339	G/A	2.56e-05
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	OV	rs73025481	chr19:37837339	G/A	9.68e-05
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	PRAD	rs73025481	chr19:37837339	G/A	1.13e-07
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	PRAD	rs73025481	chr19:37837339	G/A	1.57e-05
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	THCA	rs73025481	chr19:37837339	G/A	2.45e-07
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	THCA	rs73025481	chr19:37837339	G/A	8.82e-05
exon_skip_306337	19	37826101:37826159:37837324:37837394:37838133:37838218	37837324:37837394	ENST00000585623.1	THCA	rs73025481	chr19:37837339	G/A	1.26e-03
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	COAD	rs73025481	chr19:37837339	G/A	5.52e-04
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	HNSC	rs73025481	chr19:37837339	G/A	2.45e-03
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	BRCA	rs73025481	chr19:37837339	G/A	1.99e-11
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	BRCA	rs73025481	chr19:37837339	G/A	7.21e-07
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	BRCA	rs73025481	chr19:37837339	G/A	3.83e-03
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	LGG	rs73025481	chr19:37837339	G/A	3.71e-05
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	LGG	rs73025481	chr19:37837339	G/A	1.90e-03
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	KIRC	rs73025481	chr19:37837339	G/A	4.84e-11
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	KIRC	rs73025481	chr19:37837339	G/A	4.89e-05
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	LUAD	rs73025481	chr19:37837339	G/A	5.93e-05
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	LUAD	rs73025481	chr19:37837339	G/A	6.03e-04
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	OV	rs73025481	chr19:37837339	G/A	2.56e-05
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	OV	rs73025481	chr19:37837339	G/A	9.68e-05
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	PRAD	rs73025481	chr19:37837339	G/A	1.13e-07
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	PRAD	rs73025481	chr19:37837339	G/A	1.57e-05
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	THCA	rs73025481	chr19:37837339	G/A	2.45e-07
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	THCA	rs73025481	chr19:37837339	G/A	8.82e-05
exon_skip_306328	19	37825613:37825684:37837324:37837394:37838091:37838098	37837324:37837394	ENST00000592168.1	THCA	rs73025481	chr19:37837339	G/A	1.26e-03
exon_skip_306333	19	37826101:37826159:37835511:37835676:37838091:37838098	37835511:37835676	ENST00000324411.4	UCEC	rs2305115	chr19:37835658	C/T	7.75e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HKR1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HKR1

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RelatedDrugs for HKR1

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 HKR1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

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

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Gene summary for HKR1

Exon skipping events across known transcript of Ensembl for HKR1 from UCSC genome browser

Gene isoform structures and expression levels for HKR1

Exon skipping events with PSIs in TCGA for HKR1

Exon skipping events with PSIs in GTEx for HKR1

Open reading frame (ORF) annotation in the exon skipping event for HKR1

Infer the effects of exon skipping event on protein functional features for HKR1

SNVs in the skipped exons for HKR1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HKR1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HKR1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HKR1

RelatedDrugs for HKR1

RelatedDiseases for HKR1