ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for FUZ

Gene summary

Gene information	Gene symbol	FUZ
	Gene ID	80199
	Gene name	fuzzy planar cell polarity protein
	Synonyms	CPLANE3\|FY\|NTD
	Cytomap	19q13.33
	Type of gene	protein-coding
	Description	protein fuzzy homologciliogenesis and planar polarity effector 3fuzzy homolog
	Modification date	20180525
	UniProtAcc	Q9BT04
	Context	PubMed: FUZ [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 FUZ 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 FUZ

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 FUZ

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_320911	19	50310561:50310631:50311371:50311416:50311670:50311745	50311371:50311416	ENSG00000010361.9	ENST00000529634.2
exon_skip_320914	19	50311875:50311895:50311973:50312080:50312419:50312515	50311973:50312080	ENSG00000010361.9	ENST00000528094.1,ENST00000445575.2,ENST00000525130.1,ENST00000527973.1,ENST00000313777.4,ENST00000533418.1,ENST00000377092.4,ENST00000525370.1
exon_skip_320915	19	50311973:50312080:50312419:50312515:50312634:50312832	50312419:50312515	ENSG00000010361.9	ENST00000528094.1,ENST00000445575.2,ENST00000525130.1,ENST00000527973.1,ENST00000313777.4,ENST00000533418.1,ENST00000377092.4,ENST00000525370.1
exon_skip_320920	19	50312419:50312515:50312634:50312832:50314619:50314701	50312634:50312832	ENSG00000010361.9	ENST00000528094.1,ENST00000445575.2,ENST00000525130.1,ENST00000313777.4,ENST00000533418.1,ENST00000377092.4,ENST00000525370.1
exon_skip_320923	19	50314954:50314956:50315507:50315592:50315703:50315942	50315507:50315592	ENSG00000010361.9	ENST00000525800.1,ENST00000527111.1
exon_skip_320925	19	50314954:50314956:50315507:50315592:50315871:50315993	50315507:50315592	ENSG00000010361.9	ENST00000445575.2,ENST00000534008.1,ENST00000528043.1,ENST00000531017.1,ENST00000313777.4,ENST00000533418.1
exon_skip_320927	19	50314954:50314956:50315507:50315592:50315894:50315993	50315507:50315592	ENSG00000010361.9	ENST00000529302.1,ENST00000377092.4
exon_skip_320929	19	50314954:50314956:50315507:50315592:50316252:50316413	50315507:50315592	ENSG00000010361.9	ENST00000527585.1
exon_skip_320934	19	50314954:50314956:50315871:50315993:50316252:50316413	50315871:50315993	ENSG00000010361.9	ENST00000526575.1,ENST00000525370.1
exon_skip_320936	19	50314954:50314956:50315894:50315993:50316252:50316413	50315894:50315993	ENSG00000010361.9	ENST00000528094.1
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENSG00000010361.9	ENST00000526435.1
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENSG00000010361.9	ENST00000527111.1
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENSG00000010361.9	ENST00000525800.1
exon_skip_320945	19	50315536:50315592:50315871:50315993:50316252:50316413	50315871:50315993	ENSG00000010361.9	ENST00000445575.2,ENST00000534008.1,ENST00000531017.1,ENST00000313777.4
exon_skip_320947	19	50315536:50315592:50315871:50315993:50316389:50316492	50315871:50315993	ENSG00000010361.9	ENST00000528043.1,ENST00000533418.1
exon_skip_320950	19	50315536:50315592:50315894:50315993:50316252:50316413	50315894:50315993	ENSG00000010361.9	ENST00000377092.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for FUZ

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_320911	19	50310561:50310631:50311371:50311416:50311670:50311745	50311371:50311416	ENSG00000010361.9	ENST00000529634.2
exon_skip_320914	19	50311875:50311895:50311973:50312080:50312419:50312515	50311973:50312080	ENSG00000010361.9	ENST00000525130.1,ENST00000528094.1,ENST00000533418.1,ENST00000525370.1,ENST00000313777.4,ENST00000377092.4,ENST00000445575.2,ENST00000527973.1
exon_skip_320915	19	50311973:50312080:50312419:50312515:50312634:50312832	50312419:50312515	ENSG00000010361.9	ENST00000525130.1,ENST00000528094.1,ENST00000533418.1,ENST00000525370.1,ENST00000313777.4,ENST00000377092.4,ENST00000445575.2,ENST00000527973.1
exon_skip_320920	19	50312419:50312515:50312634:50312832:50314619:50314701	50312634:50312832	ENSG00000010361.9	ENST00000525130.1,ENST00000528094.1,ENST00000533418.1,ENST00000525370.1,ENST00000313777.4,ENST00000377092.4,ENST00000445575.2
exon_skip_320923	19	50314954:50314956:50315507:50315592:50315703:50315942	50315507:50315592	ENSG00000010361.9	ENST00000525800.1,ENST00000527111.1
exon_skip_320925	19	50314954:50314956:50315507:50315592:50315871:50315993	50315507:50315592	ENSG00000010361.9	ENST00000533418.1,ENST00000313777.4,ENST00000445575.2,ENST00000528043.1,ENST00000531017.1,ENST00000534008.1
exon_skip_320927	19	50314954:50314956:50315507:50315592:50315894:50315993	50315507:50315592	ENSG00000010361.9	ENST00000377092.4,ENST00000529302.1
exon_skip_320929	19	50314954:50314956:50315507:50315592:50316252:50316413	50315507:50315592	ENSG00000010361.9	ENST00000527585.1
exon_skip_320934	19	50314954:50314956:50315871:50315993:50316252:50316413	50315871:50315993	ENSG00000010361.9	ENST00000525370.1,ENST00000526575.1
exon_skip_320936	19	50314954:50314956:50315894:50315993:50316252:50316413	50315894:50315993	ENSG00000010361.9	ENST00000528094.1
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENSG00000010361.9	ENST00000526435.1
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENSG00000010361.9	ENST00000527111.1
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENSG00000010361.9	ENST00000525800.1
exon_skip_320945	19	50315536:50315592:50315871:50315993:50316252:50316413	50315871:50315993	ENSG00000010361.9	ENST00000313777.4,ENST00000445575.2,ENST00000531017.1,ENST00000534008.1
exon_skip_320947	19	50315536:50315592:50315871:50315993:50316389:50316492	50315871:50315993	ENSG00000010361.9	ENST00000533418.1,ENST00000528043.1
exon_skip_320950	19	50315536:50315592:50315894:50315993:50316252:50316413	50315894:50315993	ENSG00000010361.9	ENST00000377092.4

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 FUZ

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
ENST00000313777	50311973	50312080	Frame-shift
ENST00000313777	50315507	50315592	Frame-shift
ENST00000313777	50315871	50315993	Frame-shift
ENST00000313777	50312419	50312515	In-frame
ENST00000313777	50312634	50312832	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
ENST00000313777	50311973	50312080	Frame-shift
ENST00000313777	50315507	50315592	Frame-shift
ENST00000313777	50315871	50315993	Frame-shift
ENST00000313777	50312419	50312515	In-frame
ENST00000313777	50312634	50312832	In-frame

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

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
ENST00000313777	1692	418	50312634	50312832	657	854	164	230
ENST00000313777	1692	418	50312419	50312515	855	950	230	262

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
ENST00000313777	1692	418	50312634	50312832	657	854	164	230
ENST00000313777	1692	418	50312419	50312515	855	950	230	262

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
Q9BT04	164	230	1	418	Chain	ID=PRO_0000312920;Note=Protein fuzzy homolog
Q9BT04	164	230	175	175	Natural variant	ID=VAR_037616;Note=G->D;Dbxref=dbSNP:rs35002951
Q9BT04	230	262	1	418	Chain	ID=PRO_0000312920;Note=Protein fuzzy homolog
Q9BT04	230	262	235	418	Compositional bias	Note=Leu-rich

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
Q9BT04	164	230	1	418	Chain	ID=PRO_0000312920;Note=Protein fuzzy homolog
Q9BT04	164	230	175	175	Natural variant	ID=VAR_037616;Note=G->D;Dbxref=dbSNP:rs35002951
Q9BT04	230	262	1	418	Chain	ID=PRO_0000312920;Note=Protein fuzzy homolog
Q9BT04	230	262	235	418	Compositional bias	Note=Leu-rich

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SNVs in the skipped exons for FUZ

- 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_320915	50312420	50312515	50312445	50312445	Frame_Shift_Del	G	-	p.P255fs
KICH	TCGA-KO-8409-01	exon_skip_320915	50312420	50312515	50312460	50312461	Frame_Shift_Ins	-	G	p.L249fs

- 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
HMCB_SKIN	50311974	50312080	50312023	50312023	Missense_Mutation	C	T	p.G282R
PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	50311974	50312080	50312028	50312028	Missense_Mutation	G	A	p.P280L
SNU1040_LARGE_INTESTINE	50312635	50312832	50312720	50312720	Missense_Mutation	G	A	p.A202V
RERFGC1B_STOMACH	50312635	50312832	50312816	50312816	Missense_Mutation	A	C	p.F170C
CAL27_UPPER_AERODIGESTIVE_TRACT	50315508	50315592	50315554	50315554	Missense_Mutation	G	C	p.S91C
SW1088_CENTRAL_NERVOUS_SYSTEM	50315508	50315592	50315569	50315569	Missense_Mutation	G	A	p.S86F
MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	50315704	50315993	50315902	50315902	Missense_Mutation	G	A	p.T68M
MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	50315704	50315942	50315902	50315902	Missense_Mutation	G	A	p.T68M
MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	50315872	50315993	50315902	50315902	Missense_Mutation	G	A	p.T68M
MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	50315895	50315993	50315902	50315902	Missense_Mutation	G	A	p.T68M
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	50311974	50312080	50312067	50312067	Nonsense_Mutation	C	T	p.W267*
LAN6_AUTONOMIC_GANGLIA	50315704	50315993	50315872	50315872	Splice_Site	C	T	p.S78N
LAN6_AUTONOMIC_GANGLIA	50315704	50315942	50315872	50315872	Splice_Site	C	T	p.S78N
LAN6_AUTONOMIC_GANGLIA	50315872	50315993	50315872	50315872	Splice_Site	C	T	p.S78N

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

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_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	ACC	rs2305919	chr19:50315698	A/C	2.09e-09
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	ACC	rs2305918	chr19:50315773	T/A	1.71e-08
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	GBM	rs2305919	chr19:50315698	A/C	1.86e-27
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	GBM	rs2305918	chr19:50315773	T/A	6.52e-22
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	GBM	rs2305919	chr19:50315698	A/C	2.79e-04
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	GBM	rs2305918	chr19:50315773	T/A	7.59e-04
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	CESC	rs2305918	chr19:50315773	T/A	4.11e-12
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	BLCA	rs2305918	chr19:50315773	T/A	2.62e-28
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	BRCA	rs2305918	chr19:50315773	T/A	3.93e-98
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	KICH	rs2305919	chr19:50315698	A/C	5.11e-10
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	KICH	rs2305918	chr19:50315773	T/A	5.71e-10
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	KIRP	rs2305918	chr19:50315773	T/A	2.40e-29
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	KIRC	rs2305919	chr19:50315698	A/C	5.67e-62
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	KIRC	rs2305918	chr19:50315773	T/A	7.11e-57
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	KIRC	rs2305918	chr19:50315773	T/A	5.58e-04
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	KIRC	rs2305919	chr19:50315698	A/C	1.08e-03
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	KIRC	rs2305919	chr19:50315698	A/C	3.18e-03
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	LUAD	rs2305919	chr19:50315698	A/C	1.29e-49
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	LUAD	rs2305918	chr19:50315773	T/A	2.78e-34
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	LUAD	rs2305918	chr19:50315773	T/A	1.66e-06
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	LUAD	rs2305919	chr19:50315698	A/C	1.93e-06
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	MESO	rs2305919	chr19:50315698	A/C	2.98e-10
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	MESO	rs2305918	chr19:50315773	T/A	9.12e-09
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	LUSC	rs2305918	chr19:50315773	T/A	1.87e-48
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	OV	rs2305919	chr19:50315698	A/C	1.03e-56
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	OV	rs2305918	chr19:50315773	T/A	1.44e-43
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	OV	rs2305919	chr19:50315698	A/C	9.65e-05
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	OV	rs2305918	chr19:50315773	T/A	1.47e-04
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	OV	rs2305919	chr19:50315698	A/C	6.06e-04
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	PCPG	rs2305919	chr19:50315698	A/C	4.83e-27
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	PCPG	rs2305918	chr19:50315773	T/A	3.88e-19
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	PAAD	rs2305918	chr19:50315773	T/A	9.60e-17
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	PRAD	rs2305919	chr19:50315698	A/C	2.47e-65
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	PRAD	rs2305918	chr19:50315773	T/A	8.73e-55
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	PRAD	rs2305919	chr19:50315698	A/C	4.92e-07
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	PRAD	rs2305918	chr19:50315773	T/A	1.83e-06
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	PRAD	rs2305918	chr19:50315773	T/A	2.88e-05
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	PRAD	rs2305919	chr19:50315698	A/C	6.66e-05
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	SARC	rs2305918	chr19:50315773	T/A	1.77e-27
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	SARC	rs2305918	chr19:50315773	T/A	6.74e-04
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	THYM	rs2305919	chr19:50315698	A/C	2.90e-16
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	THYM	rs2305918	chr19:50315773	T/A	3.29e-13
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	TGCT	rs2305918	chr19:50315773	T/A	4.38e-11
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	SKCM	rs2305919	chr19:50315698	A/C	9.44e-11
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	SKCM	rs2305918	chr19:50315773	T/A	1.65e-08
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	THCA	rs2305919	chr19:50315698	A/C	2.75e-89
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	THCA	rs2305918	chr19:50315773	T/A	1.15e-62
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	UVM	rs2305918	chr19:50315773	T/A	6.67e-11
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	UCS	rs2305918	chr19:50315773	T/A	1.31e-06
exon_skip_320942	19	50315536:50315592:50315703:50315993:50316389:50316492	50315703:50315993	ENST00000525800.1	UCEC	rs2305918	chr19:50315773	T/A	1.05e-10
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	ACC	rs2305919	chr19:50315698	A/C	2.09e-09
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	ACC	rs2305918	chr19:50315773	T/A	1.71e-08
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	GBM	rs2305919	chr19:50315698	A/C	1.86e-27
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	GBM	rs2305918	chr19:50315773	T/A	6.52e-22
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	GBM	rs2305919	chr19:50315698	A/C	2.79e-04
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	GBM	rs2305918	chr19:50315773	T/A	7.59e-04
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	CESC	rs2305918	chr19:50315773	T/A	4.11e-12
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	BLCA	rs2305918	chr19:50315773	T/A	2.62e-28
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	BRCA	rs2305918	chr19:50315773	T/A	3.93e-98
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	KICH	rs2305919	chr19:50315698	A/C	5.11e-10
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	KICH	rs2305918	chr19:50315773	T/A	5.71e-10
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	KIRP	rs2305918	chr19:50315773	T/A	2.40e-29
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	KIRC	rs2305919	chr19:50315698	A/C	5.67e-62
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	KIRC	rs2305918	chr19:50315773	T/A	7.11e-57
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	KIRC	rs2305918	chr19:50315773	T/A	5.58e-04
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	KIRC	rs2305919	chr19:50315698	A/C	1.08e-03
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	KIRC	rs2305919	chr19:50315698	A/C	3.18e-03
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	LUAD	rs2305919	chr19:50315698	A/C	1.29e-49
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	LUAD	rs2305918	chr19:50315773	T/A	2.78e-34
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	LUAD	rs2305918	chr19:50315773	T/A	1.66e-06
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	LUAD	rs2305919	chr19:50315698	A/C	1.93e-06
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	MESO	rs2305919	chr19:50315698	A/C	2.98e-10
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	MESO	rs2305918	chr19:50315773	T/A	9.12e-09
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	LUSC	rs2305918	chr19:50315773	T/A	1.87e-48
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	OV	rs2305919	chr19:50315698	A/C	1.03e-56
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	OV	rs2305918	chr19:50315773	T/A	1.44e-43
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	OV	rs2305919	chr19:50315698	A/C	9.65e-05
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	OV	rs2305918	chr19:50315773	T/A	1.47e-04
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	OV	rs2305919	chr19:50315698	A/C	6.06e-04
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	PCPG	rs2305919	chr19:50315698	A/C	4.83e-27
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	PCPG	rs2305918	chr19:50315773	T/A	3.88e-19
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	PAAD	rs2305918	chr19:50315773	T/A	9.60e-17
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	PRAD	rs2305919	chr19:50315698	A/C	2.47e-65
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	PRAD	rs2305918	chr19:50315773	T/A	8.73e-55
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	PRAD	rs2305919	chr19:50315698	A/C	4.92e-07
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	PRAD	rs2305918	chr19:50315773	T/A	1.83e-06
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	PRAD	rs2305918	chr19:50315773	T/A	2.88e-05
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	PRAD	rs2305919	chr19:50315698	A/C	6.66e-05
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	SARC	rs2305918	chr19:50315773	T/A	1.77e-27
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	SARC	rs2305918	chr19:50315773	T/A	6.74e-04
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	THYM	rs2305919	chr19:50315698	A/C	2.90e-16
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	THYM	rs2305918	chr19:50315773	T/A	3.29e-13
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	TGCT	rs2305918	chr19:50315773	T/A	4.38e-11
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	SKCM	rs2305919	chr19:50315698	A/C	9.44e-11
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	SKCM	rs2305918	chr19:50315773	T/A	1.65e-08
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	THCA	rs2305919	chr19:50315698	A/C	2.75e-89
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	THCA	rs2305918	chr19:50315773	T/A	1.15e-62
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	UVM	rs2305918	chr19:50315773	T/A	6.67e-11
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	UCS	rs2305918	chr19:50315773	T/A	1.31e-06
exon_skip_320938	19	50315536:50315592:50315703:50315942:50316252:50316413	50315703:50315942	ENST00000526435.1	UCEC	rs2305918	chr19:50315773	T/A	1.05e-10
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	ACC	rs2305919	chr19:50315698	A/C	2.09e-09
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	ACC	rs2305918	chr19:50315773	T/A	1.71e-08
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	GBM	rs2305919	chr19:50315698	A/C	1.86e-27
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	GBM	rs2305918	chr19:50315773	T/A	6.52e-22
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	GBM	rs2305919	chr19:50315698	A/C	2.79e-04
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	GBM	rs2305918	chr19:50315773	T/A	7.59e-04
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	CESC	rs2305918	chr19:50315773	T/A	4.11e-12
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	BLCA	rs2305918	chr19:50315773	T/A	2.62e-28
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	BRCA	rs2305918	chr19:50315773	T/A	3.93e-98
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	KICH	rs2305919	chr19:50315698	A/C	5.11e-10
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	KICH	rs2305918	chr19:50315773	T/A	5.71e-10
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	KIRP	rs2305918	chr19:50315773	T/A	2.40e-29
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	KIRC	rs2305919	chr19:50315698	A/C	5.67e-62
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	KIRC	rs2305918	chr19:50315773	T/A	7.11e-57
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	KIRC	rs2305918	chr19:50315773	T/A	5.58e-04
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	KIRC	rs2305919	chr19:50315698	A/C	1.08e-03
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	KIRC	rs2305919	chr19:50315698	A/C	3.18e-03
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	LUAD	rs2305919	chr19:50315698	A/C	1.29e-49
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	LUAD	rs2305918	chr19:50315773	T/A	2.78e-34
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	LUAD	rs2305918	chr19:50315773	T/A	1.66e-06
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	LUAD	rs2305919	chr19:50315698	A/C	1.93e-06
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	MESO	rs2305919	chr19:50315698	A/C	2.98e-10
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	MESO	rs2305918	chr19:50315773	T/A	9.12e-09
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	LUSC	rs2305918	chr19:50315773	T/A	1.87e-48
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	OV	rs2305919	chr19:50315698	A/C	1.03e-56
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	OV	rs2305918	chr19:50315773	T/A	1.44e-43
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	OV	rs2305919	chr19:50315698	A/C	9.65e-05
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	OV	rs2305918	chr19:50315773	T/A	1.47e-04
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	OV	rs2305919	chr19:50315698	A/C	6.06e-04
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	PCPG	rs2305919	chr19:50315698	A/C	4.83e-27
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	PCPG	rs2305918	chr19:50315773	T/A	3.88e-19
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	PAAD	rs2305918	chr19:50315773	T/A	9.60e-17
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	PRAD	rs2305919	chr19:50315698	A/C	2.47e-65
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	PRAD	rs2305918	chr19:50315773	T/A	8.73e-55
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	PRAD	rs2305919	chr19:50315698	A/C	4.92e-07
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	PRAD	rs2305918	chr19:50315773	T/A	1.83e-06
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	PRAD	rs2305918	chr19:50315773	T/A	2.88e-05
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	PRAD	rs2305919	chr19:50315698	A/C	6.66e-05
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	SARC	rs2305918	chr19:50315773	T/A	1.77e-27
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	SARC	rs2305918	chr19:50315773	T/A	6.74e-04
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	THYM	rs2305919	chr19:50315698	A/C	2.90e-16
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	THYM	rs2305918	chr19:50315773	T/A	3.29e-13
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	TGCT	rs2305918	chr19:50315773	T/A	4.38e-11
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	SKCM	rs2305919	chr19:50315698	A/C	9.44e-11
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	SKCM	rs2305918	chr19:50315773	T/A	1.65e-08
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	THCA	rs2305919	chr19:50315698	A/C	2.75e-89
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	THCA	rs2305918	chr19:50315773	T/A	1.15e-62
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	UVM	rs2305918	chr19:50315773	T/A	6.67e-11
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	UCS	rs2305918	chr19:50315773	T/A	1.31e-06
exon_skip_320940	19	50315536:50315592:50315703:50315993:50316252:50316413	50315703:50315993	ENST00000527111.1	UCEC	rs2305918	chr19:50315773	T/A	1.05e-10

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

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

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RelatedDrugs for FUZ

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 FUZ

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 FUZ

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

Gene isoform structures and expression levels for FUZ

Exon skipping events with PSIs in TCGA for FUZ

Exon skipping events with PSIs in GTEx for FUZ

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

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

SNVs in the skipped exons for FUZ

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

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

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

RelatedDrugs for FUZ

RelatedDiseases for FUZ