ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NF2

Gene summary

Gene information	Gene symbol	NF2
	Gene ID	4771
	Gene name	neurofibromin 2
	Synonyms	ACN\|BANF\|SCH
	Cytomap	22q12.2
	Type of gene	protein-coding
	Description	merlinmoesin-ezrin-radixin likemoesin-ezrin-radixin-like proteinmoesin-ezrin-radizin-like proteinneurofibromin 2 (bilateral acoustic neuroma)schwannomerlinschwannomin
	Modification date	20180519
	UniProtAcc	P35240
	Context	PubMed: NF2 [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
NF2	GO:0008285	negative regulation of cell proliferation	12444102\|20178741
NF2	GO:0022408	negative regulation of cell-cell adhesion	17210637
NF2	GO:0042532	negative regulation of tyrosine phosphorylation of STAT protein	12444102
NF2	GO:0046426	negative regulation of JAK-STAT cascade	12444102

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Exon skipping events across known transcript of Ensembl for NF2 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 NF2

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 NF2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_364319	22	29999987:30000101:30032739:30032865:30035078:30035201	30032739:30032865	ENSG00000186575.13	ENST00000361166.4,ENST00000397789.3,ENST00000403435.1,ENST00000338641.4,ENST00000403999.3
exon_skip_364320	22	29999987:30000101:30032739:30032865:30038190:30038274	30032739:30032865	ENSG00000186575.13	ENST00000361452.4
exon_skip_364321	22	29999987:30000101:30035078:30035201:30038190:30038274	30035078:30035201	ENSG00000186575.13	ENST00000361676.4
exon_skip_364323	22	29999987:30000101:30038190:30038274:30050645:30050714	30038190:30038274	ENSG00000186575.13	ENST00000334961.7,ENST00000353887.4
exon_skip_364324	22	30032739:30032865:30035078:30035201:30038190:30038274	30035078:30035201	ENSG00000186575.13	ENST00000361166.4,ENST00000397789.3,ENST00000413209.2,ENST00000403435.1,ENST00000338641.4,ENST00000403999.3
exon_skip_364325	22	30035078:30035201:30038190:30038274:30050645:30050714	30038190:30038274	ENSG00000186575.13	ENST00000361166.4,ENST00000397789.3,ENST00000361676.4,ENST00000403435.1,ENST00000338641.4,ENST00000403999.3
exon_skip_364327	22	30054177:30054253:30057193:30057328:30060978:30061053	30057193:30057328	ENSG00000186575.13	ENST00000361166.4,ENST00000397789.3,ENST00000361676.4,ENST00000403435.1,ENST00000334961.7,ENST00000353887.4,ENST00000361452.4,ENST00000338641.4,ENST00000403999.3
exon_skip_364329	22	30057193:30057328:30060978:30061053:30064321:30064435	30060978:30061053	ENSG00000186575.13	ENST00000361166.4,ENST00000397789.3,ENST00000361676.4,ENST00000403435.1,ENST00000334961.7,ENST00000353887.4,ENST00000361452.4,ENST00000347330.5,ENST00000338641.4,ENST00000403999.3,ENST00000432151.1
exon_skip_364330	22	30060978:30061053:30064321:30064435:30067814:30067937	30064321:30064435	ENSG00000186575.13	ENST00000361166.4,ENST00000397789.3,ENST00000361676.4,ENST00000334961.7,ENST00000353887.4,ENST00000361452.4,ENST00000338641.4,ENST00000403999.3
exon_skip_364331	22	30064321:30064435:30067814:30067937:30069257:30069475	30067814:30067937	ENSG00000186575.13	ENST00000361166.4,ENST00000397789.3,ENST00000361676.4,ENST00000334961.7,ENST00000353887.4,ENST00000361452.4,ENST00000338641.4,ENST00000403999.3
exon_skip_364332	22	30064321:30064435:30067901:30067937:30069257:30069475	30067901:30067937	ENSG00000186575.13	ENST00000403435.1
exon_skip_364334	22	30074184:30074312:30077427:30077590:30090740:30090795	30077427:30077590	ENSG00000186575.13	ENST00000338641.4
exon_skip_364336	22	30077427:30077590:30079008:30079053:30090740:30090795	30079008:30079053	ENSG00000186575.13	ENST00000361166.4,ENST00000361676.4,ENST00000353887.4,ENST00000361452.4,ENST00000347330.5
exon_skip_364338	22	30077427:30077590:30079008:30079068:30090740:30090795	30079008:30079068	ENSG00000186575.13	ENST00000397789.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for NF2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_364319	22	29999987:30000101:30032739:30032865:30035078:30035201	30032739:30032865	ENSG00000186575.13	ENST00000338641.4,ENST00000403435.1,ENST00000403999.3,ENST00000361166.4,ENST00000397789.3
exon_skip_364320	22	29999987:30000101:30032739:30032865:30038190:30038274	30032739:30032865	ENSG00000186575.13	ENST00000361452.4
exon_skip_364321	22	29999987:30000101:30035078:30035201:30038190:30038274	30035078:30035201	ENSG00000186575.13	ENST00000361676.4
exon_skip_364323	22	29999987:30000101:30038190:30038274:30050645:30050714	30038190:30038274	ENSG00000186575.13	ENST00000334961.7,ENST00000353887.4
exon_skip_364324	22	30032739:30032865:30035078:30035201:30038190:30038274	30035078:30035201	ENSG00000186575.13	ENST00000413209.2,ENST00000338641.4,ENST00000403435.1,ENST00000403999.3,ENST00000361166.4,ENST00000397789.3
exon_skip_364325	22	30035078:30035201:30038190:30038274:30050645:30050714	30038190:30038274	ENSG00000186575.13	ENST00000338641.4,ENST00000403435.1,ENST00000403999.3,ENST00000361166.4,ENST00000361676.4,ENST00000397789.3
exon_skip_364327	22	30054177:30054253:30057193:30057328:30060978:30061053	30057193:30057328	ENSG00000186575.13	ENST00000338641.4,ENST00000403435.1,ENST00000361452.4,ENST00000403999.3,ENST00000334961.7,ENST00000353887.4,ENST00000361166.4,ENST00000361676.4,ENST00000397789.3
exon_skip_364329	22	30057193:30057328:30060978:30061053:30064321:30064435	30060978:30061053	ENSG00000186575.13	ENST00000347330.5,ENST00000338641.4,ENST00000403435.1,ENST00000361452.4,ENST00000403999.3,ENST00000334961.7,ENST00000353887.4,ENST00000432151.1,ENST00000361166.4,ENST00000361676.4,ENST00000397789.3
exon_skip_364330	22	30060978:30061053:30064321:30064435:30067814:30067937	30064321:30064435	ENSG00000186575.13	ENST00000338641.4,ENST00000361452.4,ENST00000403999.3,ENST00000334961.7,ENST00000353887.4,ENST00000361166.4,ENST00000361676.4,ENST00000397789.3
exon_skip_364331	22	30064321:30064435:30067814:30067937:30069257:30069475	30067814:30067937	ENSG00000186575.13	ENST00000338641.4,ENST00000361452.4,ENST00000403999.3,ENST00000334961.7,ENST00000353887.4,ENST00000361166.4,ENST00000361676.4,ENST00000397789.3
exon_skip_364332	22	30064321:30064435:30067901:30067937:30069257:30069475	30067901:30067937	ENSG00000186575.13	ENST00000403435.1
exon_skip_364334	22	30074184:30074312:30077427:30077590:30090740:30090795	30077427:30077590	ENSG00000186575.13	ENST00000338641.4
exon_skip_364336	22	30077427:30077590:30079008:30079053:30090740:30090795	30079008:30079053	ENSG00000186575.13	ENST00000347330.5,ENST00000361452.4,ENST00000353887.4,ENST00000361166.4,ENST00000361676.4
exon_skip_364338	22	30077427:30077590:30079008:30079068:30090740:30090795	30079008:30079068	ENSG00000186575.13	ENST00000397789.3

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 NF2

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
ENST00000338641	30077427	30077590	Frame-shift
ENST00000338641	30032739	30032865	In-frame
ENST00000338641	30035078	30035201	In-frame
ENST00000338641	30038190	30038274	In-frame
ENST00000338641	30057193	30057328	In-frame
ENST00000338641	30060978	30061053	In-frame
ENST00000338641	30064321	30064435	In-frame
ENST00000338641	30067814	30067937	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
ENST00000338641	30077427	30077590	Frame-shift
ENST00000338641	30032739	30032865	In-frame
ENST00000338641	30035078	30035201	In-frame
ENST00000338641	30038190	30038274	In-frame
ENST00000338641	30057193	30057328	In-frame
ENST00000338641	30060978	30061053	In-frame
ENST00000338641	30064321	30064435	In-frame
ENST00000338641	30067814	30067937	In-frame

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Infer the effects of exon skipping event on protein functional features for NF2

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
ENST00000338641	6042	595	30032739	30032865	556	681	38	80
ENST00000338641	6042	595	30035078	30035201	682	804	80	121
ENST00000338641	6042	595	30038190	30038274	805	888	121	149
ENST00000338641	6042	595	30057193	30057328	1117	1251	225	270
ENST00000338641	6042	595	30060978	30061053	1252	1326	270	295
ENST00000338641	6042	595	30064321	30064435	1327	1440	295	333
ENST00000338641	6042	595	30067814	30067937	1441	1563	333	374

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
ENST00000338641	6042	595	30032739	30032865	556	681	38	80
ENST00000338641	6042	595	30035078	30035201	682	804	80	121
ENST00000338641	6042	595	30038190	30038274	805	888	121	149
ENST00000338641	6042	595	30057193	30057328	1117	1251	225	270
ENST00000338641	6042	595	30060978	30061053	1252	1326	270	295
ENST00000338641	6042	595	30064321	30064435	1327	1440	295	333
ENST00000338641	6042	595	30067814	30067937	1441	1563	333	374

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 NF2

- 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.

NF2_CHOL_exon_skip_364330_psi_boxplot.png
boxplot

- 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-DD-A3A0-01	exon_skip_364319 exon_skip_364320	30032740	30032865	30032752	30032752	Frame_Shift_Del	G	-	p.G43fs
MESO	TCGA-MQ-A6BR-01	exon_skip_364324 exon_skip_364321	30035079	30035201	30035096	30035100	Frame_Shift_Del	TTCAA	-	p.VSK86fs
KIRP	TCGA-GL-7966-01	exon_skip_364329	30060979	30061053	30061052	30061052	Frame_Shift_Del	T	-	p.L295X
KIRP	TCGA-EV-5902-01	exon_skip_364331	30067815	30067937	30067890	30067905	Frame_Shift_Del	AGGCTGCTGCAGATGA	-	p.358_363del
KIRP	TCGA-EV-5902-01	exon_skip_364331	30067815	30067937	30067890	30067905	Frame_Shift_Del	AGGCTGCTGCAGATGA	-	p.R359fs
KIRP	TCGA-EV-5902-01	exon_skip_364331	30067815	30067937	30067890	30067905	Frame_Shift_Del	AGGCTGCTGCAGATGA	-	p.RLLQMK359fs
KIRP	TCGA-EV-5902-01	exon_skip_364332	30067902	30067937	30067890	30067905	Frame_Shift_Del	AGGCTGCTGCAGATGA	-	p.358_363del
KIRP	TCGA-EV-5902-01	exon_skip_364332	30067902	30067937	30067890	30067905	Frame_Shift_Del	AGGCTGCTGCAGATGA	-	p.R359fs
KIRP	TCGA-EV-5902-01	exon_skip_364332	30067902	30067937	30067890	30067905	Frame_Shift_Del	AGGCTGCTGCAGATGA	-	p.RLLQMK359fs
LIHC	TCGA-DD-A3A6-01	exon_skip_364325 exon_skip_364323	30038191	30038274	30038257	30038258	Frame_Shift_Ins	-	A	p.R144fs
LIHC	TCGA-DD-A3A6-01	exon_skip_364325 exon_skip_364323	30038191	30038274	30038257	30038258	Frame_Shift_Ins	-	A	p.Y144_A145delinsX
MESO	TCGA-LK-A4NZ-01	exon_skip_364325 exon_skip_364323	30038191	30038274	30038257	30038258	Frame_Shift_Ins	-	A	p.R144fs
HNSC	TCGA-CN-5365-01	exon_skip_364327	30057194	30057328	30057317	30057318	Frame_Shift_Ins	-	GT	p.*267fs
HNSC	TCGA-CN-5365-01	exon_skip_364327	30057194	30057328	30057317	30057318	Frame_Shift_Ins	-	GT	p.S267fs
KIRP	TCGA-Y8-A896-01	exon_skip_364329	30060979	30061053	30060995	30060996	Frame_Shift_Ins	-	GG	p.L276fs
MESO	TCGA-3H-AB3K-01	exon_skip_364319 exon_skip_364320	30032740	30032865	30032794	30032794	Nonsense_Mutation	C	T	p.R57*
UCEC	TCGA-B5-A0JY-01	exon_skip_364319 exon_skip_364320	30032740	30032865	30032797	30032797	Nonsense_Mutation	G	T	p.E58*
SARC	TCGA-DX-A6YQ-01	exon_skip_364319 exon_skip_364320	30032740	30032865	30032860	30032860	Nonsense_Mutation	A	T	p.K79*
LUSC	TCGA-46-3769-01	exon_skip_364324 exon_skip_364321	30035079	30035201	30035098	30035098	Nonsense_Mutation	C	G	p.S87*
LIHC	TCGA-DD-AADS-01	exon_skip_364324 exon_skip_364321	30035079	30035201	30035160	30035160	Nonsense_Mutation	G	T	p.E108X
LUAD	TCGA-05-4434-01	exon_skip_364324 exon_skip_364321	30035079	30035201	30035169	30035169	Nonsense_Mutation	C	T	p.Q111*
KIRP	TCGA-BQ-5875-01	exon_skip_364325 exon_skip_364323	30038191	30038274	30038223	30038223	Nonsense_Mutation	C	A	p.Y132*
KIRP	TCGA-BQ-5875-01	exon_skip_364325 exon_skip_364323	30038191	30038274	30038223	30038223	Nonsense_Mutation	C	A	p.Y132X
THYM	TCGA-XM-A8RL-01	exon_skip_364327	30057194	30057328	30057209	30057209	Nonsense_Mutation	G	T	p.E231X
BLCA	TCGA-FD-A3SO-01	exon_skip_364327	30057194	30057328	30057257	30057257	Nonsense_Mutation	G	T	p.E247*
ESCA	TCGA-R6-A6L6-01	exon_skip_364327	30057194	30057328	30057296	30057296	Nonsense_Mutation	G	T	p.E260*
ESCA	TCGA-R6-A6L6-01	exon_skip_364327	30057194	30057328	30057296	30057296	Nonsense_Mutation	G	T	p.E260X
BRCA	TCGA-AR-A0TU-01	exon_skip_364327	30057194	30057328	30057312	30057312	Nonsense_Mutation	C	A	p.S265*
HNSC	TCGA-IQ-7630-01	exon_skip_364329	30060979	30061053	30061031	30061031	Nonsense_Mutation	C	G	p.S288*
LUAD	TCGA-91-6830-01	exon_skip_364329	30060979	30061053	30061031	30061031	Nonsense_Mutation	C	G	p.S288*
MESO	TCGA-ZN-A9VO-01	exon_skip_364331	30067815	30067937	30067824	30067824	Nonsense_Mutation	C	T	p.Q337*
KIRC	TCGA-CJ-4901-01	exon_skip_364331	30067815	30067937	30067836	30067836	Nonsense_Mutation	C	T	p.R341*
KIRC	TCGA-CJ-4901-01	exon_skip_364331	30067815	30067937	30067836	30067836	Nonsense_Mutation	C	T	p.R341X
KIRC	TCGA-B0-4698-01	exon_skip_364324 exon_skip_364321	30035079	30035201	30035077	30035077	Splice_Site	A	G	.
KIRP	TCGA-P4-A5EA-01	exon_skip_364327	30057194	30057328	30057329	30057329	Splice_Site	G	A	.
KIRP	TCGA-P4-A5EA-01	exon_skip_364327	30057194	30057328	30057329	30057329	Splice_Site	G	A	p.E270_splice
CHOL	TCGA-W6-AA0S-01	exon_skip_364330	30064322	30064435	30064437	30064437	Splice_Site	T	G	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-W6-AA0S-01
	Cancer type: CHOL
	ESID: exon_skip_364330
	Skipped exon start: 30064322
	Skipped exon end: 30064435
	Mutation start: 30064437
	Mutation end: 30064437
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: G
	AAchange: .
exon_skip_364330_CHOL_TCGA-W6-AA0S-01.png
	Sample: TCGA-B0-4698-01
	Cancer type: KIRC
	ESID: exon_skip_364321
	Skipped exon start: 30035079
	Skipped exon end: 30035201
	Mutation start: 30035077
	Mutation end: 30035077
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: .
exon_skip_364321_KIRC_TCGA-B0-4698-01.png
exon_skip_364324_KIRC_TCGA-B0-4698-01.png
	Sample: TCGA-B0-4698-01
	Cancer type: KIRC
	ESID: exon_skip_364321
	Skipped exon start: 30035079
	Skipped exon end: 30035201
	Mutation start: 30035077
	Mutation end: 30035077
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: .
exon_skip_364321_KIRC_TCGA-B0-4698-01.png
exon_skip_364324_KIRC_TCGA-B0-4698-01.png

- 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
LB996RCC_KIDNEY	30035079	30035201	30035150	30035163	Frame_Shift_Del	TGCTGAAGAGGAGC	-	p.AEEEL105fs
NUGC3_STOMACH	30057194	30057328	30057197	30057197	Frame_Shift_Del	A	-	p.K228fs
LOUNH91_LUNG	30057194	30057328	30057286	30057286	Frame_Shift_Del	C	-	p.F256fs
RKO_LARGE_INTESTINE	30060979	30061053	30060991	30060991	Frame_Shift_Del	C	-	p.P275fs
NCIH2731_PLEURA	30060979	30061053	30061032	30061032	Frame_Shift_Del	A	-	p.S288fs
MS751_CERVIX	30067815	30067937	30067930	30067930	Frame_Shift_Del	A	-	p.E372fs
MS751_CERVIX	30067902	30067937	30067930	30067930	Frame_Shift_Del	A	-	p.E372fs
YD8_UPPER_AERODIGESTIVE_TRACT	30032740	30032865	30032798	30032798	Missense_Mutation	A	G	p.E58G
HCC2998_LARGE_INTESTINE	30035079	30035201	30035134	30035134	Missense_Mutation	A	C	p.K99T
MFE319_ENDOMETRIUM	30038191	30038274	30038222	30038222	Missense_Mutation	A	G	p.Y132C
BEN_LUNG	30057194	30057328	30057261	30057261	Missense_Mutation	A	G	p.N248S
SKHEP1_LIVER	30057194	30057328	30057308	30057308	Missense_Mutation	A	G	p.I264V
SNUC2A_LARGE_INTESTINE	30067815	30067937	30067866	30067866	Missense_Mutation	C	T	p.R351C
SNUC2B_LARGE_INTESTINE	30067815	30067937	30067866	30067866	Missense_Mutation	C	T	p.R351C
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	30067815	30067937	30067870	30067870	Missense_Mutation	C	T	p.T352M
JHUEM7_ENDOMETRIUM	30067815	30067937	30067929	30067929	Missense_Mutation	G	A	p.E372K
JHUEM7_ENDOMETRIUM	30067902	30067937	30067929	30067929	Missense_Mutation	G	A	p.E372K
GP2D_LARGE_INTESTINE	30077428	30077590	30077436	30077436	Missense_Mutation	A	G	p.Y528C
ACHN_KIDNEY	30032740	30032865	30032794	30032794	Nonsense_Mutation	C	T	p.R57*
S117_SOFT_TISSUE	30032740	30032865	30032846	30032846	Nonsense_Mutation	G	A	p.W74*
VAESBJ_SOFT_TISSUE	30035079	30035201	30035098	30035098	Nonsense_Mutation	C	A	p.S87*
8505C_THYROID	30038191	30038274	30038212	30038212	Nonsense_Mutation	G	T	p.E129*
SNU410_PANCREAS	30038191	30038274	30038259	30038259	Nonsense_Mutation	C	A	p.Y144*
MDAMB231_BREAST	30057194	30057328	30057209	30057209	Nonsense_Mutation	G	T	p.E231*
NCIH2722_PLEURA	30057194	30057328	30057302	30057302	Nonsense_Mutation	C	T	p.R262*
MFHINO_SOFT_TISSUE	30057194	30057328	30057302	30057302	Nonsense_Mutation	C	T	p.R262*
RCCAB_KIDNEY	30060979	30061053	30061048	30061048	Nonsense_Mutation	A	T	p.K294*
HEC1_ENDOMETRIUM	30064322	30064435	30064394	30064394	Nonsense_Mutation	C	T	p.Q320*
NCIH2052_PLEURA	30067815	30067937	30067836	30067836	Nonsense_Mutation	C	T	p.R341*
RL952_ENDOMETRIUM	30067815	30067937	30067899	30067899	Nonsense_Mutation	C	T	p.Q362*
RL952_ENDOMETRIUM	30067902	30067937	30067899	30067899	Nonsense_Mutation	C	T	p.Q362*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NF2

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 NF2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NF2

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RelatedDrugs for NF2

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 NF2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
NF2	C0027832	Neurofibromatosis 2	9	CTD_human;ORPHANET;UNIPROT
NF2	C0025500	Mesothelioma	6	CTD_human
NF2	C0345967	Malignant mesothelioma	4	CTD_human
NF2	C0007134	Renal Cell Carcinoma	1	CTD_human
NF2	C0025286	Meningioma	1	CTD_human;HPO
NF2	C0032229	Pleural Neoplasms	1	CTD_human

	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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