ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for HDAC7

Gene summary

Gene information	Gene symbol	HDAC7
	Gene ID	51564
	Gene name	histone deacetylase 7
	Synonyms	HD7\|HD7A\|HDAC7A
	Cytomap	12q13.11
	Type of gene	protein-coding
	Description	histone deacetylase 7histone deacetylase 7A
	Modification date	20180522
	UniProtAcc	Q8WUI4
	Context	PubMed: HDAC7 [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
HDAC7	GO:0032703	negative regulation of interleukin-2 production	17360565

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Exon skipping events across known transcript of Ensembl for HDAC7 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 HDAC7

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 HDAC7

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_91450	12	48177623:48177669:48177861:48178000:48179169:48179254	48177861:48178000	ENSG00000061273.13	ENST00000470668.1,ENST00000548080.1,ENST00000548938.1,ENST00000547259.1,ENST00000427332.2,ENST00000552960.1,ENST00000354334.3,ENST00000477203.2,ENST00000080059.7
exon_skip_91455	12	48177861:48178000:48178477:48178584:48179169:48179254	48178477:48178584	ENSG00000061273.13	ENST00000380610.4
exon_skip_91458	12	48179534:48179668:48180367:48180486:48181494:48181592	48180367:48180486	ENSG00000061273.13	ENST00000470668.1,ENST00000548080.1,ENST00000548938.1,ENST00000380610.4,ENST00000459625.1,ENST00000427332.2,ENST00000552960.1,ENST00000354334.3,ENST00000477203.2,ENST00000471235.1,ENST00000080059.7
exon_skip_91459	12	48180367:48180486:48181494:48181592:48181827:48181947	48181494:48181592	ENSG00000061273.13	ENST00000470668.1,ENST00000548080.1,ENST00000548938.1,ENST00000380610.4,ENST00000459625.1,ENST00000427332.2,ENST00000552960.1,ENST00000354334.3,ENST00000477203.2,ENST00000080059.7
exon_skip_91465	12	48183305:48183361:48183595:48183703:48185041:48185091	48183595:48183703	ENSG00000061273.13	ENST00000488927.1,ENST00000470668.1,ENST00000548938.1,ENST00000380610.4,ENST00000427332.2,ENST00000552960.1,ENST00000354334.3,ENST00000477203.2,ENST00000080059.7
exon_skip_91473	12	48183305:48183361:48183595:48185091:48185368:48185489	48183595:48185091	ENSG00000061273.13	ENST00000459625.1
exon_skip_91489	12	48183595:48183703:48185041:48185091:48185368:48185489	48185041:48185091	ENSG00000061273.13	ENST00000488927.1,ENST00000470668.1,ENST00000548080.1,ENST00000548938.1,ENST00000380610.4,ENST00000427332.2,ENST00000552960.1,ENST00000354334.3,ENST00000477203.2,ENST00000080059.7
exon_skip_91495	12	48185653:48185787:48186320:48186452:48187151:48187169	48186320:48186452	ENSG00000061273.13	ENST00000548938.1
exon_skip_91498	12	48187151:48187371:48188542:48188716:48188966:48189163	48188542:48188716	ENSG00000061273.13	ENST00000470668.1,ENST00000380610.4,ENST00000427332.2,ENST00000552960.1,ENST00000354334.3,ENST00000477203.2,ENST00000080059.7
exon_skip_91503	12	48188651:48188716:48188966:48189163:48189369:48189393	48188966:48189163	ENSG00000061273.13	ENST00000463732.1,ENST00000470668.1,ENST00000380610.4,ENST00000485796.1,ENST00000427332.2,ENST00000552960.1,ENST00000354334.3,ENST00000477203.2,ENST00000080059.7
exon_skip_91507	12	48189449:48189550:48189688:48189799:48189989:48190081	48189688:48189799	ENSG00000061273.13	ENST00000380610.4,ENST00000427332.2,ENST00000552960.1,ENST00000080059.7
exon_skip_91508	12	48189449:48189550:48189989:48190081:48190799:48190925	48189989:48190081	ENSG00000061273.13	ENST00000470668.1,ENST00000430670.1,ENST00000354334.3
exon_skip_91510	12	48189369:48189550:48189997:48190081:48190799:48190925	48189997:48190081	ENSG00000061273.13	ENST00000477203.2
exon_skip_91513	12	48189997:48190081:48190799:48190925:48191166:48191210	48190799:48190925	ENSG00000061273.13	ENST00000470668.1,ENST00000380610.4,ENST00000430670.1,ENST00000485796.1,ENST00000427332.2,ENST00000552960.1,ENST00000354334.3,ENST00000477203.2,ENST00000080059.7
exon_skip_91515	12	48192422:48192435:48192567:48192755:48196006:48196057	48192567:48192755	ENSG00000061273.13	ENST00000445237.2,ENST00000380610.4,ENST00000430670.1,ENST00000450805.1,ENST00000427332.2,ENST00000354334.3,ENST00000434070.1,ENST00000417107.1,ENST00000080059.7
exon_skip_91516	12	48192422:48192435:48192567:48192755:48213549:48213568	48192567:48192755	ENSG00000061273.13	ENST00000440293.1,ENST00000417902.1,ENST00000552960.1
exon_skip_91523	12	48192567:48192755:48196006:48196057:48212902:48212925	48196006:48196057	ENSG00000061273.13	ENST00000450805.1,ENST00000417107.1
exon_skip_91524	12	48192567:48192755:48196006:48196057:48213549:48213568	48196006:48196057	ENSG00000061273.13	ENST00000430670.1,ENST00000354334.3
exon_skip_91527	12	48192567:48192755:48196006:48196057:48214336:48214384	48196006:48196057	ENSG00000061273.13	ENST00000427332.2
exon_skip_91529	12	48192567:48192755:48196006:48196057:48226828:48226915	48196006:48196057	ENSG00000061273.13	ENST00000434070.1
exon_skip_91533	12	48196006:48196057:48212902:48212925:48213549:48213568	48212902:48212925	ENSG00000061273.13	ENST00000417107.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for HDAC7

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_91450	12	48177623:48177669:48177861:48178000:48179169:48179254	48177861:48178000	ENSG00000061273.13	ENST00000080059.7,ENST00000354334.3,ENST00000548938.1,ENST00000470668.1,ENST00000548080.1,ENST00000552960.1,ENST00000477203.2,ENST00000547259.1,ENST00000427332.2
exon_skip_91455	12	48177861:48178000:48178477:48178584:48179169:48179254	48178477:48178584	ENSG00000061273.13	ENST00000380610.4
exon_skip_91458	12	48179534:48179668:48180367:48180486:48181494:48181592	48180367:48180486	ENSG00000061273.13	ENST00000080059.7,ENST00000354334.3,ENST00000459625.1,ENST00000548938.1,ENST00000470668.1,ENST00000548080.1,ENST00000552960.1,ENST00000477203.2,ENST00000380610.4,ENST00000427332.2,ENST00000471235.1
exon_skip_91459	12	48180367:48180486:48181494:48181592:48181827:48181947	48181494:48181592	ENSG00000061273.13	ENST00000080059.7,ENST00000354334.3,ENST00000459625.1,ENST00000548938.1,ENST00000470668.1,ENST00000548080.1,ENST00000552960.1,ENST00000477203.2,ENST00000380610.4,ENST00000427332.2
exon_skip_91465	12	48183305:48183361:48183595:48183703:48185041:48185091	48183595:48183703	ENSG00000061273.13	ENST00000080059.7,ENST00000354334.3,ENST00000548938.1,ENST00000470668.1,ENST00000552960.1,ENST00000477203.2,ENST00000380610.4,ENST00000427332.2,ENST00000488927.1
exon_skip_91473	12	48183305:48183361:48183595:48185091:48185368:48185489	48183595:48185091	ENSG00000061273.13	ENST00000459625.1
exon_skip_91489	12	48183595:48183703:48185041:48185091:48185368:48185489	48185041:48185091	ENSG00000061273.13	ENST00000080059.7,ENST00000354334.3,ENST00000548938.1,ENST00000470668.1,ENST00000548080.1,ENST00000552960.1,ENST00000477203.2,ENST00000380610.4,ENST00000427332.2,ENST00000488927.1
exon_skip_91495	12	48185653:48185787:48186320:48186452:48187151:48187169	48186320:48186452	ENSG00000061273.13	ENST00000548938.1
exon_skip_91498	12	48187151:48187371:48188542:48188716:48188966:48189163	48188542:48188716	ENSG00000061273.13	ENST00000080059.7,ENST00000354334.3,ENST00000470668.1,ENST00000552960.1,ENST00000477203.2,ENST00000380610.4,ENST00000427332.2
exon_skip_91503	12	48188651:48188716:48188966:48189163:48189369:48189393	48188966:48189163	ENSG00000061273.13	ENST00000080059.7,ENST00000354334.3,ENST00000470668.1,ENST00000552960.1,ENST00000477203.2,ENST00000380610.4,ENST00000427332.2,ENST00000463732.1,ENST00000485796.1
exon_skip_91507	12	48189449:48189550:48189688:48189799:48189989:48190081	48189688:48189799	ENSG00000061273.13	ENST00000080059.7,ENST00000552960.1,ENST00000380610.4,ENST00000427332.2
exon_skip_91508	12	48189449:48189550:48189989:48190081:48190799:48190925	48189989:48190081	ENSG00000061273.13	ENST00000354334.3,ENST00000470668.1,ENST00000430670.1
exon_skip_91510	12	48189369:48189550:48189997:48190081:48190799:48190925	48189997:48190081	ENSG00000061273.13	ENST00000477203.2
exon_skip_91513	12	48189997:48190081:48190799:48190925:48191166:48191210	48190799:48190925	ENSG00000061273.13	ENST00000080059.7,ENST00000354334.3,ENST00000470668.1,ENST00000552960.1,ENST00000477203.2,ENST00000380610.4,ENST00000427332.2,ENST00000485796.1,ENST00000430670.1
exon_skip_91515	12	48192422:48192435:48192567:48192755:48196006:48196057	48192567:48192755	ENSG00000061273.13	ENST00000080059.7,ENST00000354334.3,ENST00000380610.4,ENST00000427332.2,ENST00000430670.1,ENST00000434070.1,ENST00000450805.1,ENST00000417107.1,ENST00000445237.2
exon_skip_91516	12	48192422:48192435:48192567:48192755:48213549:48213568	48192567:48192755	ENSG00000061273.13	ENST00000552960.1,ENST00000440293.1,ENST00000417902.1
exon_skip_91523	12	48192567:48192755:48196006:48196057:48212902:48212925	48196006:48196057	ENSG00000061273.13	ENST00000450805.1,ENST00000417107.1
exon_skip_91524	12	48192567:48192755:48196006:48196057:48213549:48213568	48196006:48196057	ENSG00000061273.13	ENST00000354334.3,ENST00000430670.1
exon_skip_91527	12	48192567:48192755:48196006:48196057:48214336:48214384	48196006:48196057	ENSG00000061273.13	ENST00000427332.2
exon_skip_91533	12	48196006:48196057:48212902:48212925:48213549:48213568	48212902:48212925	ENSG00000061273.13	ENST00000417107.1

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 HDAC7

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
ENST00000427332	48192567	48192755	3UTR-3CDS
ENST00000427332	48196006	48196057	3UTR-3UTR
ENST00000427332	48177861	48178000	Frame-shift
ENST00000427332	48180367	48180486	Frame-shift
ENST00000427332	48181494	48181592	Frame-shift
ENST00000427332	48185041	48185091	Frame-shift
ENST00000427332	48188966	48189163	Frame-shift
ENST00000427332	48183595	48183703	In-frame
ENST00000427332	48188542	48188716	In-frame
ENST00000427332	48189688	48189799	In-frame
ENST00000427332	48190799	48190925	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
ENST00000427332	48192567	48192755	3UTR-3CDS
ENST00000427332	48196006	48196057	3UTR-3UTR
ENST00000427332	48177861	48178000	Frame-shift
ENST00000427332	48180367	48180486	Frame-shift
ENST00000427332	48181494	48181592	Frame-shift
ENST00000427332	48185041	48185091	Frame-shift
ENST00000427332	48188966	48189163	Frame-shift
ENST00000427332	48183595	48183703	In-frame
ENST00000427332	48188542	48188716	In-frame
ENST00000427332	48189688	48189799	In-frame
ENST00000427332	48190799	48190925	In-frame

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Infer the effects of exon skipping event on protein functional features for HDAC7

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
ENST00000427332	3033	952	48190799	48190925	618	743	153	195
ENST00000427332	3033	952	48189688	48189799	836	946	226	263
ENST00000427332	3033	952	48188542	48188716	1325	1498	389	447
ENST00000427332	3033	952	48183595	48183703	2024	2131	622	658

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
ENST00000427332	3033	952	48190799	48190925	618	743	153	195
ENST00000427332	3033	952	48189688	48189799	836	946	226	263
ENST00000427332	3033	952	48188542	48188716	1325	1498	389	447
ENST00000427332	3033	952	48183595	48183703	2024	2131	622	658

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 HDAC7

- 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
LIHC	TCGA-G3-A3CJ-01	exon_skip_91450	48177862	48178000	48177946	48177946	Frame_Shift_Del	G	-	p.P949fs
STAD	TCGA-BR-4280-01	exon_skip_91459	48181495	48181592	48181527	48181527	Frame_Shift_Del	G	-	p.P807fs
UCS	TCGA-N7-A4Y0-01	exon_skip_91459	48181495	48181592	48181527	48181527	Frame_Shift_Del	G	-	p.M808fs
UCS	TCGA-N7-A4Y0-01	exon_skip_91459	48181495	48181592	48181527	48181527	Frame_Shift_Del	G	-	p.P807fs
LIHC	TCGA-DD-A3A0-01	exon_skip_91473	48183596	48185091	48185047	48185047	Frame_Shift_Del	C	-	p.V660fs
LIHC	TCGA-DD-A3A0-01	exon_skip_91489	48185042	48185091	48185047	48185047	Frame_Shift_Del	C	-	p.V660fs
LIHC	TCGA-DD-A3A0-01	exon_skip_91510 exon_skip_91508	48189990	48190081	48190032	48190032	Frame_Shift_Del	G	-	p.P251fs
LIHC	TCGA-DD-A3A0-01	exon_skip_91510 exon_skip_91508	48189998	48190081	48190032	48190032	Frame_Shift_Del	G	-	p.P251fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_91510 exon_skip_91508	48189990	48190081	48190032	48190032	Frame_Shift_Del	G	-	p.P251fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_91510 exon_skip_91508	48189998	48190081	48190032	48190032	Frame_Shift_Del	G	-	p.P251fs
LIHC	TCGA-DD-A39Y-01	exon_skip_91510 exon_skip_91508	48189990	48190081	48190072	48190072	Frame_Shift_Del	G	-	p.P238fs
LIHC	TCGA-DD-A39Y-01	exon_skip_91510 exon_skip_91508	48189998	48190081	48190072	48190072	Frame_Shift_Del	G	-	p.P238fs
BLCA	TCGA-PQ-A6FI-01	exon_skip_91516 exon_skip_91515	48192568	48192755	48192604	48192604	Frame_Shift_Del	T	-	p.A74fs
LIHC	TCGA-DD-A1EG-01	exon_skip_91516 exon_skip_91515	48192568	48192755	48192633	48192633	Frame_Shift_Del	G	-	p.Q65fs
LIHC	TCGA-DD-A39Y-01	exon_skip_91516 exon_skip_91515	48192568	48192755	48192633	48192633	Frame_Shift_Del	G	-	p.Q65fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_91516 exon_skip_91515	48192568	48192755	48192633	48192633	Frame_Shift_Del	G	-	p.Q65fs
STAD	TCGA-BR-7197-01	exon_skip_91516 exon_skip_91515	48192568	48192755	48192633	48192633	Frame_Shift_Del	G	-	p.Q26fs
LUAD	TCGA-55-8506-01	exon_skip_91503	48188967	48189163	48189044	48189045	Frame_Shift_Ins	-	G	p.C403fs
STAD	TCGA-BR-8078-01	exon_skip_91503	48188967	48189163	48189044	48189045	Frame_Shift_Ins	-	G	p.P402fs
STAD	TCGA-BR-8078-01	exon_skip_91503	48188967	48189163	48189044	48189045	Frame_Shift_Ins	-	G	p.S403fs
STAD	TCGA-BR-8078-01	exon_skip_91503	48188967	48189163	48189045	48189046	Frame_Shift_Ins	-	G	p.P402fs
UCEC	TCGA-B5-A11E-01	exon_skip_91450	48177862	48178000	48177971	48177971	Nonsense_Mutation	C	T	p.W993*
ESCA	TCGA-R6-A6XG-01	exon_skip_91510 exon_skip_91508	48189990	48190081	48190041	48190041	Nonsense_Mutation	G	T	p.C248X
ESCA	TCGA-R6-A6XG-01	exon_skip_91510 exon_skip_91508	48189998	48190081	48190041	48190041	Nonsense_Mutation	G	T	p.C248X

- 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
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48181495	48181592	48181527	48181527	Frame_Shift_Del	G	-	p.P768fs
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48181495	48181592	48181527	48181527	Frame_Shift_Del	G	-	p.P768fs
HCT116_LARGE_INTESTINE	48181495	48181592	48181527	48181527	Frame_Shift_Del	G	-	p.P768fs
SNU1_STOMACH	48181495	48181592	48181527	48181527	Frame_Shift_Del	G	-	p.P768fs
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	48181495	48181592	48181527	48181527	Frame_Shift_Del	G	-	p.P768fs
LS411N_LARGE_INTESTINE	48181495	48181592	48181527	48181527	Frame_Shift_Del	G	-	p.P768fs
TGBC11TKB_STOMACH	48181495	48181592	48181527	48181527	Frame_Shift_Del	G	-	p.P768fs
HEC151_ENDOMETRIUM	48181495	48181592	48181527	48181527	Frame_Shift_Del	G	-	p.P768fs
IGROV1_OVARY	48188967	48189163	48189045	48189045	Frame_Shift_Del	G	-	p.P363fs
2313287_STOMACH	48190800	48190925	48190834	48190834	Frame_Shift_Del	G	-	p.P184fs
SNU175_LARGE_INTESTINE	48181495	48181592	48181526	48181527	Frame_Shift_Ins	-	G	p.M769fs
CCK81_LARGE_INTESTINE	48188967	48189163	48189044	48189045	Frame_Shift_Ins	-	G	p.S364fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48177862	48178000	48177871	48177871	Missense_Mutation	G	A	p.A935V
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48177862	48178000	48177889	48177889	Missense_Mutation	A	G	p.L929P
CP67MEL_SKIN	48180368	48180486	48180427	48180427	Missense_Mutation	C	T	p.G799E
SLR24_KIDNEY	48181495	48181592	48181528	48181528	Missense_Mutation	G	T	p.P768H
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48181495	48181592	48181585	48181585	Missense_Mutation	G	C	p.A749G
SKUT1_SOFT_TISSUE	48183596	48183703	48183625	48183625	Missense_Mutation	C	T	p.A649T
SKUT1_SOFT_TISSUE	48183596	48185091	48183625	48183625	Missense_Mutation	C	T	p.A649T
HS445_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48183596	48183703	48183663	48183663	Missense_Mutation	T	C	p.N636S
HS445_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48183596	48185091	48183663	48183663	Missense_Mutation	T	C	p.N636S
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48188543	48188716	48188670	48188670	Missense_Mutation	G	A	p.S405L
G361_SKIN	48188967	48189163	48189022	48189022	Missense_Mutation	G	A	p.P371L
KU1919_URINARY_TRACT	48188967	48189163	48189119	48189119	Missense_Mutation	T	C	p.M339V
BICR18_UPPER_AERODIGESTIVE_TRACT	48188967	48189163	48189119	48189119	Missense_Mutation	T	G	p.M339L
BICR18_UPPER_AERODIGESTIVE_TRACT	48188967	48189163	48189125	48189125	Missense_Mutation	A	G	p.S337P
MRKNU1_BREAST	48189689	48189799	48189741	48189741	Missense_Mutation	G	C	p.P246R
BICR18_UPPER_AERODIGESTIVE_TRACT	48189689	48189799	48189760	48189760	Missense_Mutation	C	G	p.V240L
COGN305_AUTONOMIC_GANGLIA	48189689	48189799	48189770	48189770	Missense_Mutation	C	G	p.Q236H
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48189998	48190081	48190015	48190015	Missense_Mutation	C	T	p.G218D
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48189990	48190081	48190015	48190015	Missense_Mutation	C	T	p.G218D
QGP1_PANCREAS	48190800	48190925	48190806	48190806	Missense_Mutation	G	A	p.L194F
HCC1937_BREAST	48192568	48192755	48192582	48192582	Missense_Mutation	C	T	p.V43M
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48188543	48188716	48188680	48188680	Nonsense_Mutation	G	A	p.Q402*
SNU5_STOMACH	48189689	48189799	48189798	48189798	Splice_Site	G	C	p.A227G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HDAC7

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_91450	12	48177623:48177669:48177861:48178000:48179169:48179254	48177861:48178000	ENST00000470668.1,ENST00000548080.1,ENST00000548938.1,ENST00000547259.1,ENST00000427332.2,ENST00000552960.1,ENST00000354334.3,ENST00000477203.2,ENST00000080059.7	HNSC	rs7306788	chr12:48177906	C/T	1.37e-03
exon_skip_91450	12	48177623:48177669:48177861:48178000:48179169:48179254	48177861:48178000	ENST00000470668.1,ENST00000548080.1,ENST00000548938.1,ENST00000547259.1,ENST00000427332.2,ENST00000552960.1,ENST00000354334.3,ENST00000477203.2,ENST00000080059.7	KIRP	rs7306788	chr12:48177906	C/T	4.53e-06
exon_skip_91450	12	48177623:48177669:48177861:48178000:48179169:48179254	48177861:48178000	ENST00000470668.1,ENST00000548080.1,ENST00000548938.1,ENST00000547259.1,ENST00000427332.2,ENST00000552960.1,ENST00000354334.3,ENST00000477203.2,ENST00000080059.7	LGG	rs7306788	chr12:48177906	C/T	3.16e-07
exon_skip_91450	12	48177623:48177669:48177861:48178000:48179169:48179254	48177861:48178000	ENST00000470668.1,ENST00000548080.1,ENST00000548938.1,ENST00000547259.1,ENST00000427332.2,ENST00000552960.1,ENST00000354334.3,ENST00000477203.2,ENST00000080059.7	LGG	rs7306788	chr12:48177906	C/T	3.40e-03
exon_skip_91450	12	48177623:48177669:48177861:48178000:48179169:48179254	48177861:48178000	ENST00000470668.1,ENST00000548080.1,ENST00000548938.1,ENST00000547259.1,ENST00000427332.2,ENST00000552960.1,ENST00000354334.3,ENST00000477203.2,ENST00000080059.7	LUSC	rs7306788	chr12:48177906	C/T	4.43e-04
exon_skip_91450	12	48177623:48177669:48177861:48178000:48179169:48179254	48177861:48178000	ENST00000470668.1,ENST00000548080.1,ENST00000548938.1,ENST00000547259.1,ENST00000427332.2,ENST00000552960.1,ENST00000354334.3,ENST00000477203.2,ENST00000080059.7	OV	rs7306788	chr12:48177906	C/T	3.81e-05
exon_skip_91450	12	48177623:48177669:48177861:48178000:48179169:48179254	48177861:48178000	ENST00000470668.1,ENST00000548080.1,ENST00000548938.1,ENST00000547259.1,ENST00000427332.2,ENST00000552960.1,ENST00000354334.3,ENST00000477203.2,ENST00000080059.7	PCPG	rs7306788	chr12:48177906	C/T	2.70e-05
exon_skip_91450	12	48177623:48177669:48177861:48178000:48179169:48179254	48177861:48178000	ENST00000470668.1,ENST00000548080.1,ENST00000548938.1,ENST00000547259.1,ENST00000427332.2,ENST00000552960.1,ENST00000354334.3,ENST00000477203.2,ENST00000080059.7	PRAD	rs7306788	chr12:48177906	C/T	6.54e-07
exon_skip_91450	12	48177623:48177669:48177861:48178000:48179169:48179254	48177861:48178000	ENST00000470668.1,ENST00000548080.1,ENST00000548938.1,ENST00000547259.1,ENST00000427332.2,ENST00000552960.1,ENST00000354334.3,ENST00000477203.2,ENST00000080059.7	THCA	rs7306788	chr12:48177906	C/T	8.30e-08
exon_skip_91455	12	48177861:48178000:48178477:48178584:48179169:48179254	48178477:48178584	ENST00000380610.4	LGG	rs7972177	chr12:48178513	A/G	2.48e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HDAC7

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HDAC7

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RelatedDrugs for HDAC7

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 HDAC7

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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