ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for FSIP2

Gene summary

Gene information	Gene symbol	FSIP2
	Gene ID	401024
	Gene name	fibrous sheath interacting protein 2
	Synonyms	-
	Cytomap	2q32.1
	Type of gene	protein-coding
	Description	fibrous sheath-interacting protein 2
	Modification date	20180519
	UniProtAcc	Q5CZC0
	Context	PubMed: FSIP2 [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 FSIP2 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 FSIP2

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 FSIP2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_331585	2	186625714:186625830:186626698:186626744:186627909:186628016	186626698:186626744	ENSG00000188738.9	ENST00000343098.5,ENST00000546113.1,ENST00000429412.1,ENST00000424728.1
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENSG00000188738.9	ENST00000343098.5,ENST00000424728.1
exon_skip_331588	2	186678271:186678769:186680097:186680198:186689160:186689207	186680097:186680198	ENSG00000188738.9	ENST00000343098.5,ENST00000415915.1,ENST00000424728.1
exon_skip_331590	2	186692882:186692926:186696539:186696609:186697816:186698016	186696539:186696609	ENSG00000188738.9	ENST00000343098.5,ENST00000415915.1,ENST00000424728.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for FSIP2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_331580	2	186612039:186612150:186618448:186618575:186625714:186625830	186618448:186618575	ENSG00000188738.9	ENST00000429412.1,ENST00000546113.1
exon_skip_331585	2	186625714:186625830:186626698:186626744:186627909:186628016	186626698:186626744	ENSG00000188738.9	ENST00000343098.5,ENST00000424728.1,ENST00000429412.1,ENST00000546113.1
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENSG00000188738.9	ENST00000343098.5,ENST00000424728.1
exon_skip_331588	2	186678271:186678769:186680097:186680198:186689160:186689207	186680097:186680198	ENSG00000188738.9	ENST00000343098.5,ENST00000424728.1,ENST00000415915.1
exon_skip_331590	2	186692882:186692926:186696539:186696609:186697816:186698016	186696539:186696609	ENSG00000188738.9	ENST00000343098.5,ENST00000424728.1,ENST00000415915.1

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 FSIP2

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
ENST00000424728	186626698	186626744	Frame-shift
ENST00000424728	186664423	186673860	Frame-shift
ENST00000424728	186680097	186680198	Frame-shift
ENST00000424728	186696539	186696609	Frame-shift

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
ENST00000424728	186626698	186626744	Frame-shift
ENST00000424728	186664423	186673860	Frame-shift
ENST00000424728	186680097	186680198	Frame-shift
ENST00000424728	186696539	186696609	Frame-shift

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Infer the effects of exon skipping event on protein functional features for FSIP2

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 FSIP2

- 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
LUAD	TCGA-17-Z037-01	exon_skip_331586	186664424	186673860	186665039	186665039	Frame_Shift_Del	A	-	p.Q3758fs
LIHC	TCGA-DD-A1EG-01	exon_skip_331586	186664424	186673860	186670139	186670139	Frame_Shift_Del	A	-	p.Q5458fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_331586	186664424	186673860	186670858	186670858	Frame_Shift_Del	A	-	p.K5700fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_331586	186664424	186673860	186670864	186670864	Frame_Shift_Del	A	-	p.K5700fs
ESCA	TCGA-L5-A43J-01	exon_skip_331586	186664424	186673860	186671157	186671157	Frame_Shift_Del	C	-	p.P5799fs
ESCA	TCGA-L5-A43J-01	exon_skip_331586	186664424	186673860	186671157	186671157	Frame_Shift_Del	C	-	p.S5797fs
LIHC	TCGA-DD-A1EG-01	exon_skip_331586	186664424	186673860	186671157	186671157	Frame_Shift_Del	C	-	p.S5797fs
COAD	TCGA-D5-6540-01	exon_skip_331586	186664424	186673860	186671226	186671226	Frame_Shift_Del	A	-	p.T5820fs
LIHC	TCGA-DD-A1EG-01	exon_skip_331586	186664424	186673860	186671521	186671521	Frame_Shift_Del	A	-	p.K5919fs
LIHC	TCGA-DD-A39Y-01	exon_skip_331586	186664424	186673860	186671929	186671929	Frame_Shift_Del	T	-	p.F6055fs
LIHC	TCGA-DD-A39Y-01	exon_skip_331586	186664424	186673860	186671986	186671986	Frame_Shift_Del	A	-	p.K6075fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_331586	186664424	186673860	186672503	186672503	Frame_Shift_Del	T	-	p.V6246fs
LIHC	TCGA-DD-A1EG-01	exon_skip_331586	186664424	186673860	186672782	186672782	Frame_Shift_Del	A	-	p.E6339fs
LIHC	TCGA-DD-A39Y-01	exon_skip_331586	186664424	186673860	186672847	186672847	Frame_Shift_Del	A	-	p.K6361fs
COAD	TCGA-CK-5913-01	exon_skip_331586	186664424	186673860	186672992	186672992	Frame_Shift_Del	A	-	p.E6409fs
LIHC	TCGA-DD-A1EG-01	exon_skip_331586	186664424	186673860	186673142	186673142	Frame_Shift_Del	A	-	p.E6459fs
LUAD	TCGA-NJ-A4YQ-01	exon_skip_331586	186664424	186673860	186673508	186673508	Frame_Shift_Del	C	-	p.A6581fs
LIHC	TCGA-DD-A39Y-01	exon_skip_331586	186664424	186673860	186673611	186673611	Frame_Shift_Del	A	-	p.G6615fs
STAD	TCGA-CG-5728-01	exon_skip_331586	186664424	186673860	186673611	186673611	Frame_Shift_Del	A	-	p.G6615fs
STAD	TCGA-BR-4257-01	exon_skip_331586	186664424	186673860	186673635	186673635	Frame_Shift_Del	A	-	p.P6623fs
STAD	TCGA-D7-A4YV-01	exon_skip_331586	186664424	186673860	186673640	186673640	Frame_Shift_Del	T	-	p.I6625fs
LIHC	TCGA-DD-A1EG-01	exon_skip_331586	186664424	186673860	186673671	186673671	Frame_Shift_Del	A	-	p.I6635fs
SKCM	TCGA-D3-A8GL-06	exon_skip_331586	186664424	186673860	186673671	186673671	Frame_Shift_Del	A	-	p.I6635fs
LIHC	TCGA-DD-A1EG-01	exon_skip_331586	186664424	186673860	186673694	186673694	Frame_Shift_Del	T	-	p.L6643fs
LIHC	TCGA-DD-A3A0-01	exon_skip_331586	186664424	186673860	186673793	186673793	Frame_Shift_Del	A	-	p.E6676fs
LIHC	TCGA-DD-A39Y-01	exon_skip_331588	186680098	186680198	186680105	186680105	Frame_Shift_Del	A	-	p.E6867fs
ESCA	TCGA-XP-A8T7-01	exon_skip_331586	186664424	186673860	186665038	186665039	Frame_Shift_Ins	-	A	p.K3758fs
ESCA	TCGA-XP-A8T7-01	exon_skip_331586	186664424	186673860	186665038	186665039	Frame_Shift_Ins	-	A	p.N3760fs
ESCA	TCGA-XP-A8T7-01	exon_skip_331586	186664424	186673860	186665038	186665039	Frame_Shift_Ins	-	A	p.Q3758fs
THYM	TCGA-ZB-A966-01	exon_skip_331586	186664424	186673860	186665038	186665039	Frame_Shift_Ins	-	A	p.N3760fs
STAD	TCGA-VQ-A8P2-01	exon_skip_331586	186664424	186673860	186670036	186670037	Frame_Shift_Ins	-	A	p.E5424fs
STAD	TCGA-VQ-A8P2-01	exon_skip_331586	186664424	186673860	186670036	186670037	Frame_Shift_Ins	-	A	p.K5424fs
HNSC	TCGA-CV-6935-01	exon_skip_331586	186664424	186673860	186670222	186670223	Frame_Shift_Ins	-	T	p.F5486fs
SKCM	TCGA-EB-A44P-01	exon_skip_331586	186664424	186673860	186670303	186670304	Frame_Shift_Ins	-	A	p.K5513fs
LIHC	TCGA-BC-A112-01	exon_skip_331586	186664424	186673860	186672588	186672589	Frame_Shift_Ins	-	T	p.NF6274fs
LIHC	TCGA-BC-A112-01	exon_skip_331586	186664424	186673860	186673386	186673387	Frame_Shift_Ins	-	A	p.P6540fs
LIHC	TCGA-BC-A112-01	exon_skip_331586	186664424	186673860	186673386	186673387	Frame_Shift_Ins	-	A	p.PK6540fs
ESCA	TCGA-JY-A93C-01	exon_skip_331586	186664424	186673860	186664503	186664503	Nonsense_Mutation	C	G	p.Y3579*
ESCA	TCGA-JY-A93C-01	exon_skip_331586	186664424	186673860	186664503	186664503	Nonsense_Mutation	C	G	p.Y3579X
ESCA	TCGA-L5-A8NV-01	exon_skip_331586	186664424	186673860	186666039	186666039	Nonsense_Mutation	G	A	p.W4091*
ESCA	TCGA-L5-A8NV-01	exon_skip_331586	186664424	186673860	186666039	186666039	Nonsense_Mutation	G	A	p.W4091X
UCEC	TCGA-AP-A056-01	exon_skip_331586	186664424	186673860	186669721	186669721	Nonsense_Mutation	G	T	p.E5230*
SKCM	TCGA-EE-A2M5-06	exon_skip_331586	186664424	186673860	186669973	186669973	Nonsense_Mutation	A	T	p.K5403*
LIHC	TCGA-RC-A6M4-01	exon_skip_331586	186664424	186673860	186670102	186670102	Nonsense_Mutation	G	T	p.E5446*
LIHC	TCGA-RC-A6M4-01	exon_skip_331586	186664424	186673860	186670102	186670102	Nonsense_Mutation	G	T	p.E5446X
COAD	TCGA-DM-A1D4-01	exon_skip_331586	186664424	186673860	186670150	186670150	Nonsense_Mutation	G	T	p.E5462X
BRCA	TCGA-A8-A07L-01	exon_skip_331586	186664424	186673860	186670216	186670216	Nonsense_Mutation	C	T	p.Q5395*
LUAD	TCGA-MP-A4TI-01	exon_skip_331586	186664424	186673860	186670643	186670643	Nonsense_Mutation	C	G	p.S5626*
COAD	TCGA-A6-6653-01	exon_skip_331586	186664424	186673860	186670981	186670981	Nonsense_Mutation	C	T	p.R5739X
UCEC	TCGA-AP-A059-01	exon_skip_331586	186664424	186673860	186671119	186671119	Nonsense_Mutation	G	T	p.E5696*
READ	TCGA-F5-6814-01	exon_skip_331586	186664424	186673860	186671130	186671130	Nonsense_Mutation	T	G	p.Y5788X
SKCM	TCGA-FR-A7U9-06	exon_skip_331586	186664424	186673860	186671243	186671243	Nonsense_Mutation	C	A	p.S5826*
KIRP	TCGA-BQ-5878-01	exon_skip_331586	186664424	186673860	186671552	186671552	Nonsense_Mutation	C	G	p.S5929*
KIRP	TCGA-A4-A5Y1-01	exon_skip_331586	186664424	186673860	186671593	186671593	Nonsense_Mutation	C	T	p.Q5943*
KIRP	TCGA-A4-A5Y1-01	exon_skip_331586	186664424	186673860	186671593	186671593	Nonsense_Mutation	C	T	p.Q5943X
UCEC	TCGA-AP-A056-01	exon_skip_331586	186664424	186673860	186671860	186671860	Nonsense_Mutation	G	T	p.E5943*
UCEC	TCGA-BS-A0UV-01	exon_skip_331586	186664424	186673860	186672403	186672403	Nonsense_Mutation	G	T	p.E6124*
PAAD	TCGA-IB-7651-01	exon_skip_331586	186664424	186673860	186672574	186672574	Nonsense_Mutation	G	T	p.E6181*
PAAD	TCGA-IB-7651-01	exon_skip_331586	186664424	186673860	186672574	186672574	Nonsense_Mutation	G	T	p.E6270*
PAAD	TCGA-IB-7651-01	exon_skip_331586	186664424	186673860	186672574	186672574	Nonsense_Mutation	G	T	p.E6270X
LUAD	TCGA-95-7039-01	exon_skip_331586	186664424	186673860	186673154	186673154	Nonsense_Mutation	C	A	p.S6463*
BLCA	TCGA-YF-AA3M-01	exon_skip_331586	186664424	186673860	186673331	186673331	Nonsense_Mutation	C	G	p.S6522*
LUAD	TCGA-95-8039-01	exon_skip_331588	186680098	186680198	186680101	186680101	Nonsense_Mutation	G	T	p.E6866*

- 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
TE11_OESOPHAGUS	186664424	186673860	186665227	186665230	Frame_Shift_Del	AATG	-	p.NE3732fs
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	186664424	186673860	186665406	186665406	Frame_Shift_Del	A	-	p.L3791fs
MFE319_ENDOMETRIUM	186664424	186673860	186668032	186668032	Frame_Shift_Del	G	-	p.G4667fs
KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	186664424	186673860	186668423	186668426	Frame_Shift_Del	TAGT	-	p.IV4797fs
SNUC2A_LARGE_INTESTINE	186664424	186673860	186669659	186669659	Frame_Shift_Del	A	-	p.Q5209fs
SNUC2B_LARGE_INTESTINE	186664424	186673860	186669659	186669659	Frame_Shift_Del	A	-	p.Q5209fs
LOVO_LARGE_INTESTINE	186664424	186673860	186670756	186670756	Frame_Shift_Del	A	-	p.K5576fs
SW48_LARGE_INTESTINE	186664424	186673860	186670756	186670756	Frame_Shift_Del	A	-	p.K5576fs
HCC1428_BREAST	186664424	186673860	186670902	186670918	Frame_Shift_Del	TGACAAGCTCTTTCAGT	-	p.DKLFQL5624fs
HEC6_ENDOMETRIUM	186664424	186673860	186671226	186671226	Frame_Shift_Del	A	-	p.T5731fs
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	186664424	186673860	186671226	186671226	Frame_Shift_Del	A	-	p.T5731fs
LIM1215_LARGE_INTESTINE	186664424	186673860	186673611	186673611	Frame_Shift_Del	A	-	p.G6526fs
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	186664424	186673860	186673611	186673611	Frame_Shift_Del	A	-	p.G6526fs
TE11_OESOPHAGUS	186664424	186673860	186665234	186665235	Frame_Shift_Ins	-	T	p.QP3734fs
NCIH1048_LUNG	186664424	186673860	186665348	186665349	Frame_Shift_Ins	-	T	p.AF3772fs
SNU1040_LARGE_INTESTINE	186664424	186673860	186668416	186668417	Frame_Shift_Ins	-	AA	p.E4795fs
CAL51_BREAST	186664424	186673860	186669672	186669673	Frame_Shift_Ins	-	A	p.K5214fs
EFO27_OVARY	186664424	186673860	186672661	186672662	Frame_Shift_Ins	-	A	p.Q6210fs
CCK81_LARGE_INTESTINE	186664424	186673860	186673141	186673142	Frame_Shift_Ins	-	A	p.E6370fs
RVH421_SKIN	186664424	186673860	186673292	186673293	Frame_Shift_Ins	-	T	p.QV6420fs
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	186664424	186673860	186673610	186673611	Frame_Shift_Ins	-	A	p.GK6526fs
GP2D_LARGE_INTESTINE	186664424	186673860	186664549	186664549	Missense_Mutation	G	A	p.V3506I
MIAPACA2_PANCREAS	186664424	186673860	186664556	186664556	Missense_Mutation	A	C	p.Y3508S
SKMEL2_SKIN	186664424	186673860	186664694	186664694	Missense_Mutation	G	A	p.G3554E
MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	186664424	186673860	186664966	186664966	Missense_Mutation	T	C	p.C3645R
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	186664424	186673860	186665075	186665075	Missense_Mutation	A	G	p.N3681S
SH10TC_STOMACH	186664424	186673860	186665120	186665120	Missense_Mutation	T	C	p.V3696A
SH10TC_STOMACH	186664424	186673860	186665401	186665401	Missense_Mutation	C	G	p.L3790V
MCC13_SKIN	186664424	186673860	186665446	186665446	Missense_Mutation	C	T	p.R3805C
KYSE450_OESOPHAGUS	186664424	186673860	186665529	186665529	Missense_Mutation	C	A	p.D3832E
SARC9371_BONE	186664424	186673860	186665564	186665564	Missense_Mutation	C	T	p.S3844F
TTC442_SOFT_TISSUE	186664424	186673860	186665599	186665599	Missense_Mutation	T	C	p.S3856P
REC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	186664424	186673860	186665673	186665673	Missense_Mutation	A	G	p.I3880M
HT115_LARGE_INTESTINE	186664424	186673860	186665815	186665815	Missense_Mutation	G	T	p.A3928S
MUGCHOR1_BONE	186664424	186673860	186665828	186665828	Missense_Mutation	A	G	p.K3932R
HCC2108_LUNG	186664424	186673860	186665951	186665951	Missense_Mutation	C	A	p.A3973D
DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	186664424	186673860	186666371	186666371	Missense_Mutation	T	G	p.I4113R
SNU475_LIVER	186664424	186673860	186666931	186666931	Missense_Mutation	C	T	p.P4300S
MIAPACA2_PANCREAS	186664424	186673860	186667166	186667166	Missense_Mutation	A	C	p.Y4378S
NCIH1355_LUNG	186664424	186673860	186667625	186667625	Missense_Mutation	C	A	p.T4531N
NCIH1930_LUNG	186664424	186673860	186667807	186667807	Missense_Mutation	T	A	p.F4592I
NCIH661_LUNG	186664424	186673860	186668053	186668053	Missense_Mutation	G	C	p.V4674L
NB1643_AUTONOMIC_GANGLIA	186664424	186673860	186668096	186668096	Missense_Mutation	C	T	p.P4688L
KYSE410_OESOPHAGUS	186664424	186673860	186668691	186668691	Missense_Mutation	C	G	p.S4886R
RH36_SOFT_TISSUE	186664424	186673860	186668806	186668806	Missense_Mutation	C	G	p.Q4925E
NCIH650_LUNG	186664424	186673860	186669088	186669088	Missense_Mutation	G	C	p.E5019Q
HCT15_LARGE_INTESTINE	186664424	186673860	186669448	186669448	Missense_Mutation	C	A	p.L5139I
HCC2450_LUNG	186664424	186673860	186669638	186669638	Missense_Mutation	C	A	p.S5202Y
SF268_CENTRAL_NERVOUS_SYSTEM	186664424	186673860	186669733	186669733	Missense_Mutation	C	A	p.H5234N
NCIH1105_LUNG	186664424	186673860	186669757	186669757	Missense_Mutation	G	A	p.G5242S
CAOV3_OVARY	186664424	186673860	186669797	186669797	Missense_Mutation	A	G	p.H5255R
M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	186664424	186673860	186669971	186669971	Missense_Mutation	T	G	p.L5313R
NCIH1838_LUNG	186664424	186673860	186669977	186669977	Missense_Mutation	T	G	p.L5315R
HCC2998_LARGE_INTESTINE	186664424	186673860	186670018	186670018	Missense_Mutation	A	C	p.K5329Q
NCIH1435_LUNG	186664424	186673860	186670055	186670055	Missense_Mutation	C	A	p.P5341Q
NCIH2887_LUNG	186664424	186673860	186670150	186670150	Missense_Mutation	G	A	p.E5373K
SCLC22H_LUNG	186664424	186673860	186670190	186670190	Missense_Mutation	A	G	p.Q5386R
JHUEM7_ENDOMETRIUM	186664424	186673860	186670251	186670251	Missense_Mutation	C	A	p.F5406L
MEWO_SKIN	186664424	186673860	186670256	186670256	Missense_Mutation	C	T	p.S5408L
LCLC97TM1_LUNG	186664424	186673860	186670297	186670297	Missense_Mutation	C	A	p.L5422I
JHUEM7_ENDOMETRIUM	186664424	186673860	186670352	186670352	Missense_Mutation	C	A	p.S5440Y
NCIH1793_LUNG	186664424	186673860	186670360	186670360	Missense_Mutation	G	T	p.D5443Y
A549_LUNG	186664424	186673860	186670384	186670384	Missense_Mutation	T	A	p.S5451T
HEC251_ENDOMETRIUM	186664424	186673860	186670406	186670406	Missense_Mutation	T	C	p.M5458T
SISO_CERVIX	186664424	186673860	186670412	186670412	Missense_Mutation	G	A	p.S5460N
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	186664424	186673860	186670412	186670412	Missense_Mutation	G	A	p.S5460N
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	186664424	186673860	186670490	186670490	Missense_Mutation	A	G	p.D5486G
NCIH2122_LUNG	186664424	186673860	186670517	186670517	Missense_Mutation	T	C	p.I5495T
NCIBL2122_MATCHED_NORMAL_TISSUE	186664424	186673860	186670517	186670517	Missense_Mutation	T	C	p.I5495T
MCC13_SKIN	186664424	186673860	186670720	186670720	Missense_Mutation	G	A	p.E5563K
MRKNU1_BREAST	186664424	186673860	186670731	186670731	Missense_Mutation	G	T	p.K5566N
SKOV3_OVARY	186664424	186673860	186670804	186670804	Missense_Mutation	G	C	p.D5591H
MKN7_STOMACH	186664424	186673860	186670825	186670825	Missense_Mutation	G	A	p.E5598K
SNUC5_LARGE_INTESTINE	186664424	186673860	186670826	186670826	Missense_Mutation	A	T	p.E5598V
NCIH2023_LUNG	186664424	186673860	186670850	186670850	Missense_Mutation	T	C	p.I5606T
BB65EBV_MATCHED_NORMAL_TISSUE	186664424	186673860	186670898	186670898	Missense_Mutation	A	C	p.K5622T
BB65RCC_KIDNEY	186664424	186673860	186670898	186670898	Missense_Mutation	A	C	p.K5622T
SNU81_LARGE_INTESTINE	186664424	186673860	186670982	186670982	Missense_Mutation	G	A	p.R5650Q
MCC13_SKIN	186664424	186673860	186671000	186671000	Missense_Mutation	G	A	p.G5656E
NCIH1618_LUNG	186664424	186673860	186671134	186671134	Missense_Mutation	T	A	p.S5701T
NUDUL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	186664424	186673860	186671134	186671134	Missense_Mutation	T	A	p.S5701T
ES6_BONE	186664424	186673860	186671215	186671215	Missense_Mutation	T	C	p.S5728P
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	186664424	186673860	186671245	186671245	Missense_Mutation	A	G	p.T5738A
NCIH2172_LUNG	186664424	186673860	186671284	186671284	Missense_Mutation	G	C	p.E5751Q
TGBC24TKB_BILIARY_TRACT	186664424	186673860	186671284	186671284	Missense_Mutation	G	A	p.E5751K
PECAPJ15_UPPER_AERODIGESTIVE_TRACT	186664424	186673860	186671288	186671288	Missense_Mutation	G	C	p.R5752T
GP2D_LARGE_INTESTINE	186664424	186673860	186671300	186671300	Missense_Mutation	A	T	p.K5756I
GP5D_LARGE_INTESTINE	186664424	186673860	186671300	186671300	Missense_Mutation	A	T	p.K5756I
HEC108_ENDOMETRIUM	186664424	186673860	186671414	186671414	Missense_Mutation	T	C	p.M5794T
WM88_SKIN	186664424	186673860	186671444	186671444	Missense_Mutation	C	T	p.P5804L
NCIH2172_LUNG	186664424	186673860	186671465	186671465	Missense_Mutation	G	C	p.R5811T
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	186664424	186673860	186671486	186671486	Missense_Mutation	A	T	p.K5818M
451LU_SKIN	186664424	186673860	186671551	186671551	Missense_Mutation	T	A	p.S5840T
COLO792_SKIN	186664424	186673860	186671600	186671600	Missense_Mutation	C	T	p.P5856L
AGS_STOMACH	186664424	186673860	186671648	186671648	Missense_Mutation	A	G	p.E5872G
NCIH520_LUNG	186664424	186673860	186671693	186671693	Missense_Mutation	C	T	p.A5887V
ECC10_STOMACH	186664424	186673860	186671707	186671707	Missense_Mutation	C	T	p.P5892S
SBC3_LUNG	186664424	186673860	186671815	186671815	Missense_Mutation	T	C	p.Y5928H
SN12C_KIDNEY	186664424	186673860	186671858	186671858	Missense_Mutation	G	C	p.G5942A
CW9019_SOFT_TISSUE	186664424	186673860	186671868	186671868	Missense_Mutation	A	C	p.L5945F
HEC1A_ENDOMETRIUM	186664424	186673860	186672067	186672067	Missense_Mutation	T	C	p.F6012L
HEC1_ENDOMETRIUM	186664424	186673860	186672067	186672067	Missense_Mutation	T	C	p.F6012L
MELJUSO_SKIN	186664424	186673860	186672068	186672068	Missense_Mutation	T	A	p.F6012Y
LS411N_LARGE_INTESTINE	186664424	186673860	186672103	186672103	Missense_Mutation	A	T	p.I6024F
GB1_CENTRAL_NERVOUS_SYSTEM	186664424	186673860	186672144	186672144	Missense_Mutation	G	C	p.E6037D
C10_LARGE_INTESTINE	186664424	186673860	186672161	186672161	Missense_Mutation	A	T	p.E6043V
LS411N_LARGE_INTESTINE	186664424	186673860	186672205	186672205	Missense_Mutation	G	C	p.E6058Q
HCC2108_LUNG	186664424	186673860	186672443	186672443	Missense_Mutation	A	G	p.E6137G
MORCPR_LUNG	186664424	186673860	186672443	186672443	Missense_Mutation	A	G	p.E6137G
LNCAPCLONEFGC_PROSTATE	186664424	186673860	186672470	186672470	Missense_Mutation	T	C	p.V6146A
SW684_SOFT_TISSUE	186664424	186673860	186672472	186672472	Missense_Mutation	G	A	p.E6147K
CW2_LARGE_INTESTINE	186664424	186673860	186672500	186672500	Missense_Mutation	A	G	p.D6156G
SQ1_LUNG	186664424	186673860	186672518	186672518	Missense_Mutation	A	T	p.D6162V
SW684_SOFT_TISSUE	186664424	186673860	186672596	186672596	Missense_Mutation	C	T	p.S6188L
EGI1_BILIARY_TRACT	186664424	186673860	186672610	186672610	Missense_Mutation	A	C	p.I6193L
MCC13_SKIN	186664424	186673860	186672644	186672644	Missense_Mutation	C	T	p.S6204F
NALM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	186664424	186673860	186672659	186672659	Missense_Mutation	T	C	p.M6209T
IGROV1_OVARY	186664424	186673860	186672661	186672661	Missense_Mutation	C	A	p.Q6210K
SW684_SOFT_TISSUE	186664424	186673860	186672741	186672742	Missense_Mutation	GG	AC	p.E6237Q
KYSE510_OESOPHAGUS	186664424	186673860	186672859	186672859	Missense_Mutation	G	C	p.G6276R
JHUEM7_ENDOMETRIUM	186664424	186673860	186672914	186672914	Missense_Mutation	C	T	p.S6294L
COLO792_SKIN	186664424	186673860	186673030	186673030	Missense_Mutation	G	A	p.E6333K
BT20_BREAST	186664424	186673860	186673063	186673063	Missense_Mutation	G	C	p.D6344H
NCIH446_LUNG	186664424	186673860	186673199	186673199	Missense_Mutation	T	A	p.V6389E
GP2D_LARGE_INTESTINE	186664424	186673860	186673211	186673211	Missense_Mutation	T	A	p.I6393N
GP5D_LARGE_INTESTINE	186664424	186673860	186673211	186673211	Missense_Mutation	T	A	p.I6393N
JHUEM7_ENDOMETRIUM	186664424	186673860	186673276	186673276	Missense_Mutation	A	G	p.T6415A
SNGM_ENDOMETRIUM	186664424	186673860	186673301	186673301	Missense_Mutation	A	G	p.D6423G
NCIH460_LUNG	186664424	186673860	186673337	186673337	Missense_Mutation	C	G	p.T6435S
KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	186664424	186673860	186673553	186673553	Missense_Mutation	A	C	p.K6507T
MM370_SKIN	186664424	186673860	186673583	186673583	Missense_Mutation	C	T	p.S6517F
KHYG_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	186664424	186673860	186673604	186673604	Missense_Mutation	A	T	p.H6524L
FU97_STOMACH	186664424	186673860	186673642	186673642	Missense_Mutation	A	T	p.I6537F
LXF289_LUNG	186664424	186673860	186673670	186673670	Missense_Mutation	T	C	p.I6546T
SAT_UPPER_AERODIGESTIVE_TRACT	186664424	186673860	186673693	186673693	Missense_Mutation	C	G	p.L6554V
HEC59_ENDOMETRIUM	186664424	186673860	186673732	186673732	Missense_Mutation	G	T	p.A6567S
SNU1040_LARGE_INTESTINE	186664424	186673860	186673747	186673747	Missense_Mutation	G	A	p.A6572T
C75_LARGE_INTESTINE	186680098	186680198	186680134	186680134	Missense_Mutation	T	A	p.Y6788N
LK2_LUNG	186680098	186680198	186680173	186680173	Missense_Mutation	C	A	p.Q6801K
LU99_LUNG	186680098	186680198	186680173	186680173	Missense_Mutation	C	A	p.Q6801K
BHY_UPPER_AERODIGESTIVE_TRACT	186680098	186680198	186680173	186680173	Missense_Mutation	C	A	p.Q6801K
NCIH1373_LUNG	186680098	186680198	186680182	186680182	Missense_Mutation	C	A	p.L6804I
HEC108_ENDOMETRIUM	186696540	186696609	186696565	186696565	Missense_Mutation	A	G	p.K6848R
CORL321_PLEURA	186696540	186696609	186696567	186696567	Missense_Mutation	G	T	p.D6849Y
SW948_LARGE_INTESTINE	186664424	186673860	186665051	186665051	Nonsense_Mutation	T	G	p.L3673*
LN464_CENTRAL_NERVOUS_SYSTEM	186664424	186673860	186665472	186665472	Nonsense_Mutation	C	A	p.C3813*
NCIH1435_LUNG	186664424	186673860	186669742	186669742	Nonsense_Mutation	C	T	p.Q5237*
NUGC2_STOMACH	186664424	186673860	186670229	186670229	Nonsense_Mutation	C	G	p.S5399*
GP2D_LARGE_INTESTINE	186664424	186673860	186671356	186671356	Nonsense_Mutation	C	T	p.R5775*
TGBC24TKB_BILIARY_TRACT	186664424	186673860	186671552	186671552	Nonsense_Mutation	C	G	p.S5840*
NCIH1793_LUNG	186664424	186673860	186671818	186671818	Nonsense_Mutation	G	T	p.G5929*
LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM	186664424	186673860	186673105	186673105	Nonsense_Mutation	A	T	p.K6358*
NCIH513_PLEURA	186664424	186673860	186673130	186673130	Nonsense_Mutation	C	G	p.S6366*
HT115_LARGE_INTESTINE	186664424	186673860	186673345	186673345	Nonsense_Mutation	G	T	p.E6438*
MDAMB453_BREAST	186664424	186673860	186673646	186673646	Nonsense_Mutation	C	G	p.S6538*
CHAGOK1_LUNG	186664424	186673860	186673678	186673678	Nonsense_Mutation	C	T	p.Q6549*

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FSIP2

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_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LGG	rs13003744	chr2:186668935	A/G	4.38e-04
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LGG	rs13003744	chr2:186668935	A/G	4.38e-04
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LGG	rs4666690	chr2:186672897	C/T	5.21e-04
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LGG	rs4666690	chr2:186672897	C/T	5.21e-04
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	KIRC	rs4666690	chr2:186672897	C/T	3.53e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	KIRC	rs4666690	chr2:186672897	C/T	3.53e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs4666690	chr2:186672897	C/T	1.25e-05
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs4666690	chr2:186672897	C/T	1.25e-05
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs13003744	chr2:186668935	A/G	2.44e-05
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs13003744	chr2:186668935	A/G	2.44e-05
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs1862066	chr2:186671912	C/T	1.00e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs1862066	chr2:186671912	C/T	1.00e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs36004074	chr2:186665432	A/G	1.13e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs36004074	chr2:186665432	A/G	1.13e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs11695215	chr2:186665824	C/T	1.37e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs11695215	chr2:186665824	C/T	1.37e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs11686997	chr2:186664473	T/C	1.51e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs10931200	chr2:186664963	C/A	1.51e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs11686997	chr2:186664473	T/C	1.51e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs10931200	chr2:186664963	C/A	1.51e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs17826534	chr2:186671357	G/A	1.80e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs17826534	chr2:186671357	G/A	1.80e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs7605884	chr2:186667121	T/C	1.80e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	LUAD	rs7605884	chr2:186667121	T/C	1.80e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	PRAD	rs4666690	chr2:186672897	C/T	4.91e-05
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	PRAD	rs4666690	chr2:186672897	C/T	4.91e-05
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	PRAD	rs13003744	chr2:186668935	A/G	6.63e-05
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	PRAD	rs13003744	chr2:186668935	A/G	6.63e-05
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs4666690	chr2:186672897	C/T	7.17e-04
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs4666690	chr2:186672897	C/T	7.17e-04
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs36004074	chr2:186665432	A/G	1.02e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs36004074	chr2:186665432	A/G	1.02e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs11695215	chr2:186665824	C/T	1.09e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs11695215	chr2:186665824	C/T	1.09e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs10931200	chr2:186664963	C/A	1.23e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs7605884	chr2:186667121	T/C	1.23e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs10931200	chr2:186664963	C/A	1.23e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs7605884	chr2:186667121	T/C	1.23e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs17826534	chr2:186671357	G/A	1.29e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs17826534	chr2:186671357	G/A	1.29e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs1862066	chr2:186671912	C/T	1.36e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs1862066	chr2:186671912	C/T	1.36e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs11686997	chr2:186664473	T/C	1.42e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs11686997	chr2:186664473	T/C	1.42e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs13003744	chr2:186668935	A/G	1.58e-03
exon_skip_331586	2	186659344:186662253:186664423:186673860:186678271:186678769	186664423:186673860	ENST00000343098.5,ENST00000424728.1	THCA	rs13003744	chr2:186668935	A/G	1.58e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FSIP2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FSIP2

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RelatedDrugs for FSIP2

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 FSIP2

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 FSIP2

Exon skipping events across known transcript of Ensembl for FSIP2 from UCSC genome browser

Gene isoform structures and expression levels for FSIP2

Exon skipping events with PSIs in TCGA for FSIP2

Exon skipping events with PSIs in GTEx for FSIP2

Open reading frame (ORF) annotation in the exon skipping event for FSIP2

Infer the effects of exon skipping event on protein functional features for FSIP2

SNVs in the skipped exons for FSIP2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FSIP2

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FSIP2

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FSIP2

RelatedDrugs for FSIP2

RelatedDiseases for FSIP2