ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for FBRSL1

Gene summary

Gene information	Gene symbol	FBRSL1
	Gene ID	57666
	Gene name	fibrosin like 1
	Synonyms	-
	Cytomap	12q24.33
	Type of gene	protein-coding
	Description	fibrosin-1-like proteinAUTS2-like proteinHBV X-transactivated gene 9 proteinHBV XAg-transactivated protein 9
	Modification date	20180519
	UniProtAcc	Q9HCM7
	Context	PubMed: FBRSL1 [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 FBRSL1 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 FBRSL1

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 FBRSL1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_88842	12	133067387:133067447:133084738:133084936:133102319:133102409	133084738:133084936	ENSG00000112787.8	ENST00000261673.6
exon_skip_88848	12	133084741:133084936:133102319:133102409:133104538:133104574	133102319:133102409	ENSG00000112787.8	ENST00000261673.6,ENST00000434748.2
exon_skip_88857	12	133102319:133102409:133104538:133104574:133124588:133124618	133104538:133104574	ENSG00000112787.8	ENST00000261673.6,ENST00000434748.2
exon_skip_88861	12	133104538:133104574:133124588:133124618:133144066:133144112	133124588:133124618	ENSG00000112787.8	ENST00000261673.6,ENST00000434748.2
exon_skip_88864	12	133146511:133146827:133146920:133147126:133147892:133147908	133146920:133147126	ENSG00000112787.8	ENST00000261673.6,ENST00000434748.2
exon_skip_88899	12	133146923:133147126:133147892:133148110:133148873:133148924	133147892:133148110	ENSG00000112787.8	ENST00000261673.6,ENST00000434748.2
exon_skip_88915	12	133148024:133148110:133148873:133148930:133149112:133149180	133148873:133148930	ENSG00000112787.8	ENST00000261673.6,ENST00000434748.2
exon_skip_88918	12	133148873:133148924:133149112:133149208:133150675:133150744	133149112:133149208	ENSG00000112787.8	ENST00000542306.1
exon_skip_88926	12	133148873:133148930:133149112:133149208:133150904:133150934	133149112:133149208	ENSG00000112787.8	ENST00000261673.6,ENST00000434748.2
exon_skip_88930	12	133149190:133149208:133150675:133150744:133150904:133150934	133150675:133150744	ENSG00000112787.8	ENST00000542306.1
exon_skip_88931	12	133149112:133149208:133150904:133150934:133151078:133151150	133150904:133150934	ENSG00000112787.8	ENST00000537804.1
exon_skip_88938	12	133151081:133151150:133153384:133153517:133158024:133158102	133153384:133153517	ENSG00000112787.8	ENST00000542306.1,ENST00000261673.6,ENST00000434748.2
exon_skip_88959	12	133153384:133153517:133158024:133158102:133158326:133158410	133158024:133158102	ENSG00000112787.8	ENST00000542306.1,ENST00000261673.6,ENST00000434748.2
exon_skip_88967	12	133158024:133158102:133158326:133158410:133158647:133158852	133158326:133158410	ENSG00000112787.8	ENST00000542306.1,ENST00000261673.6,ENST00000434748.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for FBRSL1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_88842	12	133067387:133067447:133084738:133084936:133102319:133102409	133084738:133084936	ENSG00000112787.8	ENST00000261673.6
exon_skip_88848	12	133084741:133084936:133102319:133102409:133104538:133104574	133102319:133102409	ENSG00000112787.8	ENST00000434748.2,ENST00000261673.6
exon_skip_88857	12	133102319:133102409:133104538:133104574:133124588:133124618	133104538:133104574	ENSG00000112787.8	ENST00000434748.2,ENST00000261673.6
exon_skip_88861	12	133104538:133104574:133124588:133124618:133144066:133144112	133124588:133124618	ENSG00000112787.8	ENST00000434748.2,ENST00000261673.6
exon_skip_88864	12	133146511:133146827:133146920:133147126:133147892:133147908	133146920:133147126	ENSG00000112787.8	ENST00000434748.2,ENST00000261673.6
exon_skip_88899	12	133146923:133147126:133147892:133148110:133148873:133148924	133147892:133148110	ENSG00000112787.8	ENST00000434748.2,ENST00000261673.6
exon_skip_88915	12	133148024:133148110:133148873:133148930:133149112:133149180	133148873:133148930	ENSG00000112787.8	ENST00000434748.2,ENST00000261673.6
exon_skip_88918	12	133148873:133148924:133149112:133149208:133150675:133150744	133149112:133149208	ENSG00000112787.8	ENST00000542306.1
exon_skip_88926	12	133148873:133148930:133149112:133149208:133150904:133150934	133149112:133149208	ENSG00000112787.8	ENST00000434748.2,ENST00000261673.6
exon_skip_88930	12	133149190:133149208:133150675:133150744:133150904:133150934	133150675:133150744	ENSG00000112787.8	ENST00000542306.1
exon_skip_88931	12	133149112:133149208:133150904:133150934:133151078:133151150	133150904:133150934	ENSG00000112787.8	ENST00000537804.1
exon_skip_88938	12	133151081:133151150:133153384:133153517:133158024:133158102	133153384:133153517	ENSG00000112787.8	ENST00000434748.2,ENST00000261673.6,ENST00000542306.1
exon_skip_88959	12	133153384:133153517:133158024:133158102:133158326:133158410	133158024:133158102	ENSG00000112787.8	ENST00000434748.2,ENST00000261673.6,ENST00000542306.1
exon_skip_88967	12	133158024:133158102:133158326:133158410:133158647:133158852	133158326:133158410	ENSG00000112787.8	ENST00000434748.2,ENST00000261673.6,ENST00000542306.1

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 FBRSL1

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
ENST00000434748	133146920	133147126	Frame-shift
ENST00000434748	133147892	133148110	Frame-shift
ENST00000434748	133153384	133153517	Frame-shift
ENST00000434748	133102319	133102409	In-frame
ENST00000434748	133104538	133104574	In-frame
ENST00000434748	133124588	133124618	In-frame
ENST00000434748	133148873	133148930	In-frame
ENST00000434748	133149112	133149208	In-frame
ENST00000434748	133158024	133158102	In-frame
ENST00000434748	133158326	133158410	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
ENST00000434748	133146920	133147126	Frame-shift
ENST00000434748	133147892	133148110	Frame-shift
ENST00000434748	133153384	133153517	Frame-shift
ENST00000434748	133102319	133102409	In-frame
ENST00000434748	133104538	133104574	In-frame
ENST00000434748	133124588	133124618	In-frame
ENST00000434748	133148873	133148930	In-frame
ENST00000434748	133149112	133149208	In-frame
ENST00000434748	133158024	133158102	In-frame
ENST00000434748	133158326	133158410	In-frame

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Infer the effects of exon skipping event on protein functional features for FBRSL1

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
ENST00000434748	5585	1045	133102319	133102409	1510	1599	163	193
ENST00000434748	5585	1045	133104538	133104574	1600	1635	193	205
ENST00000434748	5585	1045	133124588	133124618	1636	1665	205	215
ENST00000434748	5585	1045	133148873	133148930	2452	2508	477	496
ENST00000434748	5585	1045	133149112	133149208	2509	2604	496	528
ENST00000434748	5585	1045	133158024	133158102	2984	3061	654	680
ENST00000434748	5585	1045	133158326	133158410	3062	3145	680	708

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
ENST00000434748	5585	1045	133102319	133102409	1510	1599	163	193
ENST00000434748	5585	1045	133104538	133104574	1600	1635	193	205
ENST00000434748	5585	1045	133124588	133124618	1636	1665	205	215
ENST00000434748	5585	1045	133148873	133148930	2452	2508	477	496
ENST00000434748	5585	1045	133149112	133149208	2509	2604	496	528
ENST00000434748	5585	1045	133158024	133158102	2984	3061	654	680
ENST00000434748	5585	1045	133158326	133158410	3062	3145	680	708

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
Q9HCM7	163	193	1	1045	Chain	ID=PRO_0000321962;Note=Fibrosin-1-like protein
Q9HCM7	193	205	1	1045	Chain	ID=PRO_0000321962;Note=Fibrosin-1-like protein
Q9HCM7	205	215	1	1045	Chain	ID=PRO_0000321962;Note=Fibrosin-1-like protein
Q9HCM7	477	496	1	1045	Chain	ID=PRO_0000321962;Note=Fibrosin-1-like protein
Q9HCM7	477	496	263	517	Compositional bias	Note=Pro-rich
Q9HCM7	496	528	1	1045	Chain	ID=PRO_0000321962;Note=Fibrosin-1-like protein
Q9HCM7	496	528	263	517	Compositional bias	Note=Pro-rich
Q9HCM7	654	680	1	1045	Chain	ID=PRO_0000321962;Note=Fibrosin-1-like protein
Q9HCM7	680	708	1	1045	Chain	ID=PRO_0000321962;Note=Fibrosin-1-like protein

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
Q9HCM7	163	193	1	1045	Chain	ID=PRO_0000321962;Note=Fibrosin-1-like protein
Q9HCM7	193	205	1	1045	Chain	ID=PRO_0000321962;Note=Fibrosin-1-like protein
Q9HCM7	205	215	1	1045	Chain	ID=PRO_0000321962;Note=Fibrosin-1-like protein
Q9HCM7	477	496	1	1045	Chain	ID=PRO_0000321962;Note=Fibrosin-1-like protein
Q9HCM7	477	496	263	517	Compositional bias	Note=Pro-rich
Q9HCM7	496	528	1	1045	Chain	ID=PRO_0000321962;Note=Fibrosin-1-like protein
Q9HCM7	496	528	263	517	Compositional bias	Note=Pro-rich
Q9HCM7	654	680	1	1045	Chain	ID=PRO_0000321962;Note=Fibrosin-1-like protein
Q9HCM7	680	708	1	1045	Chain	ID=PRO_0000321962;Note=Fibrosin-1-like protein

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SNVs in the skipped exons for FBRSL1

- 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
COAD	TCGA-AA-3663-01	exon_skip_88842	133084739	133084936	133084822	133084822	Frame_Shift_Del	C	-	p.C125fs
LIHC	TCGA-DD-A1EG-01	exon_skip_88842	133084739	133084936	133084822	133084822	Frame_Shift_Del	C	-	p.C125fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_88848	133102320	133102409	133102341	133102341	Frame_Shift_Del	G	-	p.G172fs
CHOL	TCGA-ZH-A8Y2-01	exon_skip_88848	133102320	133102409	133102390	133102396	Frame_Shift_Del	CCCGGGA	-	p.187_189del
CHOL	TCGA-ZH-A8Y2-01	exon_skip_88848	133102320	133102409	133102390	133102396	Frame_Shift_Del	CCCGGGA	-	p.SRD187fs
LIHC	TCGA-DD-A3A1-01	exon_skip_88848	133102320	133102409	133102393	133102393	Frame_Shift_Del	G	-	p.R188fs
COAD	TCGA-CM-6171-01	exon_skip_88899	133147893	133148110	133148061	133148061	Frame_Shift_Del	C	-	p.A461fs
LIHC	TCGA-DD-A1EG-01	exon_skip_88938	133153385	133153517	133153399	133153399	Frame_Shift_Del	C	-	p.D615fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_88938	133153385	133153517	133153399	133153399	Frame_Shift_Del	C	-	p.D615fs
LIHC	TCGA-DD-A39Y-01	exon_skip_88938	133153385	133153517	133153494	133153494	Frame_Shift_Del	C	-	p.A647fs
LIHC	TCGA-BC-A112-01	exon_skip_88899	133147893	133148110	133148060	133148061	Frame_Shift_Ins	-	C	p.P461fs
UCEC	TCGA-D1-A17B-01	exon_skip_88918 exon_skip_88926	133149113	133149208	133149188	133149188	Nonsense_Mutation	C	T	p.Q522*
UCEC	TCGA-AP-A059-01	exon_skip_88915	133148874	133148930	133148873	133148873	Splice_Site	G	A	e10-1

- 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
CW2_LARGE_INTESTINE	133146921	133147126	133146935	133146935	Frame_Shift_Del	C	-	p.A341fs
SNUC2A_LARGE_INTESTINE	133146921	133147126	133146935	133146935	Frame_Shift_Del	C	-	p.A341fs
BICR18_UPPER_AERODIGESTIVE_TRACT	133147893	133148110	133148001	133148002	In_Frame_Ins	-	GCACAC	p.442_443insTH
HCC1937_BREAST	133084739	133084936	133084785	133084785	Missense_Mutation	G	A	p.R113H
SNU1040_LARGE_INTESTINE	133084739	133084936	133084806	133084806	Missense_Mutation	G	A	p.R120Q
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133084739	133084936	133084830	133084830	Missense_Mutation	C	T	p.A128V
YD10B_UPPER_AERODIGESTIVE_TRACT	133084739	133084936	133084880	133084880	Missense_Mutation	G	A	p.D145N
EPLC272H_LUNG	133084739	133084936	133084901	133084901	Missense_Mutation	G	A	p.G152R
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133102320	133102409	133102332	133102332	Missense_Mutation	G	C	p.V168L
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133102320	133102409	133102365	133102365	Missense_Mutation	G	A	p.D179N
CAMA1_BREAST	133146921	133147126	133146938	133146938	Missense_Mutation	C	T	p.P342L
NCIH650_LUNG	133146921	133147126	133146976	133146976	Missense_Mutation	G	A	p.G355R
OVCAR8_OVARY	133146921	133147126	133147023	133147023	Missense_Mutation	G	T	p.Q370H
HCT116_LARGE_INTESTINE	133146921	133147126	133147043	133147043	Missense_Mutation	C	T	p.A377V
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133146921	133147126	133147072	133147072	Missense_Mutation	C	T	p.P387S
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133146921	133147126	133147072	133147072	Missense_Mutation	C	T	p.P387S
MFE319_ENDOMETRIUM	133146921	133147126	133147076	133147076	Missense_Mutation	C	A	p.P388Q
SNU201_CENTRAL_NERVOUS_SYSTEM	133146921	133147126	133147085	133147085	Missense_Mutation	C	T	p.A391V
BFTC909_KIDNEY	133147893	133148110	133147926	133147926	Missense_Mutation	G	A	p.R416Q
MDAMB361_BREAST	133147893	133148110	133147931	133147931	Missense_Mutation	C	G	p.L418V
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133147893	133148110	133147941	133147941	Missense_Mutation	G	A	p.S421N
BICR18_UPPER_AERODIGESTIVE_TRACT	133147893	133148110	133147941	133147941	Missense_Mutation	G	A	p.S421N
PACADD165_PANCREAS	133147893	133148110	133148051	133148051	Missense_Mutation	C	T	p.H458Y
MFE319_ENDOMETRIUM	133147893	133148110	133148064	133148064	Missense_Mutation	C	T	p.P462L
SNUC4_LARGE_INTESTINE	133147893	133148110	133148072	133148072	Missense_Mutation	G	A	p.A465T
KYSE140_OESOPHAGUS	133147893	133148110	133148084	133148084	Missense_Mutation	C	T	p.P469S
MFHINO_SOFT_TISSUE	133148874	133148930	133148889	133148889	Missense_Mutation	C	T	p.P483S
NCIH1836_LUNG	133148874	133148930	133148898	133148898	Missense_Mutation	G	A	p.D486N
SNGM_ENDOMETRIUM	133149113	133149208	133149155	133149155	Missense_Mutation	C	A	p.L511M
A253_SALIVARY_GLAND	133150905	133150934	133150915	133150915	Missense_Mutation	C	A	p.P532Q
SISO_CERVIX	133150905	133150934	133150920	133150920	Missense_Mutation	C	T	p.R534W
2313287_STOMACH	133153385	133153517	133153439	133153439	Missense_Mutation	G	A	p.G629S
SNU175_LARGE_INTESTINE	133158025	133158102	133158091	133158091	Missense_Mutation	G	C	p.G677A
VMRCMELG_SKIN	133158025	133158102	133158096	133158097	Missense_Mutation	CT	GC	p.L679A
PANC0203_PANCREAS	133158327	133158410	133158329	133158329	Missense_Mutation	C	T	p.P682S
COLO783_SKIN	133158327	133158410	133158330	133158330	Missense_Mutation	C	T	p.P682L
CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133158327	133158410	133158335	133158335	Missense_Mutation	A	G	p.S684G
KU812_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133158327	133158410	133158335	133158335	Missense_Mutation	A	G	p.S684G
SNU869_BILIARY_TRACT	133158327	133158410	133158335	133158335	Missense_Mutation	A	G	p.S684G
NCIH358_LUNG	133158327	133158410	133158362	133158362	Missense_Mutation	G	T	p.G693C
JHOS2_OVARY	133158327	133158410	133158387	133158387	Missense_Mutation	G	A	p.G701E
JHH7_LIVER	133158327	133158410	133158387	133158387	Missense_Mutation	G	A	p.G701E
LI7_LIVER	133158327	133158410	133158387	133158387	Missense_Mutation	G	A	p.G701E
MOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133158327	133158410	133158387	133158387	Missense_Mutation	G	A	p.G701E
MDAMB175VII_BREAST	133147893	133148110	133147893	133147893	Splice_Site	A	T	p.D405V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FBRSL1

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 FBRSL1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FBRSL1

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RelatedDrugs for FBRSL1

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 FBRSL1

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 FBRSL1

Exon skipping events across known transcript of Ensembl for FBRSL1 from UCSC genome browser

Gene isoform structures and expression levels for FBRSL1

Exon skipping events with PSIs in TCGA for FBRSL1

Exon skipping events with PSIs in GTEx for FBRSL1

Open reading frame (ORF) annotation in the exon skipping event for FBRSL1

Infer the effects of exon skipping event on protein functional features for FBRSL1

SNVs in the skipped exons for FBRSL1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FBRSL1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FBRSL1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FBRSL1

RelatedDrugs for FBRSL1

RelatedDiseases for FBRSL1