ExonSkipAD: 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	20200322
	UniProtAcc	A0A024R1D9, A0A024R1F6, A0A024R1I0, A0A024R1J8, A0A024R1J9, A0A286SD19, A0A286SD20, A0A286SD34, A0A5F9ZHA0, A0A5F9ZHD8, A0A5K1VW66, A5A158, P35240, Q16230, Q16231, Q16232, Q16233, Q16276, Q7KZ66, Q9NRW8,
	Context

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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Gene structures and expression levels for NF2

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000186575

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
PG	UP	ENST00000338641.9	NF2-202:protein_coding:NF2	2.468912e+02	1.037406e+00	4.258343e-04	7.869829e-03
CB	DOWN	ENST00000481338.1	INF2-208:lncRNA:INF2	7.077611e+01	-1.898523e+00	2.260896e-14	6.818156e-12
CB	DOWN	ENST00000560019.5	TINF2-213:protein_coding:TINF2	7.882490e+01	-1.014558e+00	1.325773e-09	5.492479e-08
CB	DOWN	ENST00000558703.1	TINF2-209:retained_intron:TINF2	1.256701e+01	-1.650753e+00	8.887165e-09	2.716912e-07
CB	DOWN	ENST00000413209.6	NF2-210:protein_coding:NF2	3.246942e+02	-2.158985e+00	6.548680e-08	1.483327e-06
CB	UP	ENST00000557921.2	TINF2-205:protein_coding:TINF2	1.324425e+01	8.127589e-01	5.153796e-05	4.219574e-04
CB	UP	ENST00000367509.8	RNF2-201:protein_coding:RNF2	3.308948e+01	9.664367e-01	7.707289e-05	5.949976e-04
CB	UP	ENST00000353887.8	NF2-203:protein_coding:NF2	1.912878e+01	1.381811e+00	1.059094e-04	7.773642e-04
CB	UP	ENST00000672461.1	NF2-212:nonsense_mediated_decay:NF2	2.706865e+00	1.611008e+00	1.242043e-02	4.145055e-02
TC	DOWN	ENST00000481338.1	INF2-208:lncRNA:INF2	4.348025e+02	-1.400020e+00	2.179088e-14	1.312128e-11
TC	DOWN	ENST00000558703.1	TINF2-209:retained_intron:TINF2	1.247039e+01	-1.087798e+00	3.844936e-05	7.528741e-04
TC	UP	ENST00000324015.7	SERPINF2-201:protein_coding:SERPINF2	3.606625e+00	5.203461e+00	5.328042e-03	3.516477e-02

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NF2

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_15036	chr22	29678273:29678323:29681439:29681601:29694752:29694811	29681439:29681601
exon_skip_153753	chr22	29668333:29668446:29671826:29671948:29673269:29673486	29671826:29671948
exon_skip_184333	chr22	29678196:29678323:29681439:29681601:29694752:29694811	29681439:29681601
exon_skip_21095	chr22	29654657:29654725:29654975:29655080:29655594:29655676	29654975:29655080
exon_skip_232803	chr22	29681439:29681601:29683020:29683064:29694752:29694811	29683020:29683064
exon_skip_234877	chr22	29603999:29604112:29636751:29636876:29639090:29639212	29636751:29636876
exon_skip_245616	chr22	29636751:29636876:29639090:29639212:29642202:29642264	29639090:29639212
exon_skip_245732	chr22	29681439:29681601:29683020:29683079:29694752:29694811	29683020:29683079
exon_skip_275096	chr22	29661205:29661339:29664990:29665064:29668333:29668446	29664990:29665064
exon_skip_279694	chr22	29636751:29636876:29642202:29642285:29654657:29654725	29642202:29642285
exon_skip_289677	chr22	29681516:29681601:29683020:29683079:29694752:29694811	29683020:29683079
exon_skip_294617	chr22	29658189:29658264:29661205:29661339:29664990:29665064	29661205:29661339
exon_skip_33813	chr22	29636751:29636876:29639090:29639212:29642202:29642285	29639090:29639212
exon_skip_38316	chr22	29668333:29668446:29671913:29671948:29673269:29673486	29671913:29671948
exon_skip_83043	chr22	29681516:29681601:29683020:29683064:29694752:29694811	29683020:29683064
exon_skip_86075	chr22	29664990:29665064:29668333:29668446:29671826:29671948	29668333:29668446

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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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 ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000338641	29681439	29681601	Frame-shift
ENST00000338641	29636751	29636876	In-frame
ENST00000338641	29639090	29639212	In-frame
ENST00000338641	29661205	29661339	In-frame
ENST00000338641	29664990	29665064	In-frame
ENST00000338641	29668333	29668446	In-frame
ENST00000338641	29671826	29671948	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000338641	29681439	29681601	Frame-shift
ENST00000338641	29636751	29636876	In-frame
ENST00000338641	29639090	29639212	In-frame
ENST00000338641	29664990	29665064	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000338641	29681439	29681601	Frame-shift
ENST00000338641	29636751	29636876	In-frame
ENST00000338641	29639090	29639212	In-frame
ENST00000338641	29661205	29661339	In-frame
ENST00000338641	29664990	29665064	In-frame
ENST00000338641	29668333	29668446	In-frame
ENST00000338641	29671826	29671948	In-frame

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

p-ENSG00000186575_img4.png
boxplot

Loci of skipped exons in ROSMAP 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	29636751	29636876	557	681	38	80
ENST00000338641	6042	595	29639090	29639212	683	804	80	121
ENST00000338641	6042	595	29661205	29661339	1118	1251	225	270
ENST00000338641	6042	595	29664990	29665064	1253	1326	270	295
ENST00000338641	6042	595	29668333	29668446	1328	1440	295	333
ENST00000338641	6042	595	29671826	29671948	1442	1563	333	374

Loci of skipped exons in MSBB 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	29636751	29636876	557	681	38	80
ENST00000338641	6042	595	29639090	29639212	683	804	80	121
ENST00000338641	6042	595	29664990	29665064	1253	1326	270	295

Loci of skipped exons in Mayo 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	29636751	29636876	557	681	38	80
ENST00000338641	6042	595	29639090	29639212	683	804	80	121
ENST00000338641	6042	595	29661205	29661339	1118	1251	225	270
ENST00000338641	6042	595	29664990	29665064	1253	1326	270	295
ENST00000338641	6042	595	29668333	29668446	1328	1440	295	333
ENST00000338641	6042	595	29671826	29671948	1442	1563	333	374

Lost protein functional features of individual exon skipping events in ROSMAP.

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
P35240	38	80	39	121	Alternative sequence	ID=VSP_007041;Note=In isoform 4 and isoform 10. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10401006,ECO:0000303\|PubMed:11827459,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10401006,PMID:11827459,PMID:15489334
P35240	38	80	39	80	Alternative sequence	ID=VSP_007040;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11827459;Dbxref=PMID:11827459
P35240	38	80	32	38	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	38	80	62	68	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	38	80	71	74	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	38	80	77	80	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZRJ
P35240	38	80	1	595	Chain	ID=PRO_0000219412;Note=Merlin
P35240	38	80	22	311	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P35240	38	80	43	54	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	38	80	59	61	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	38	80	64	64	Mutagenesis	Note=Abolishes binding to AGAP2 and interaction with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15598747,ECO:0000269\|PubMed:20178741;Dbxref=PMID:15598747,PMID
P35240	38	80	46	46	Natural variant	ID=VAR_000809;Note=In vestibular schwannoma%3B loss of ability to interact with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. L->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:20178741,ECO:0000269\|PubMed:8004107
P35240	38	80	62	62	Natural variant	ID=VAR_000810;Note=In NF2%3B loss of ability to interact with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. F->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10790209,ECO:0000269\|PubMed:2
P35240	38	80	77	77	Natural variant	ID=VAR_043011;Note=In NF2. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9643284;Dbxref=PMID:9643284
P35240	38	80	79	79	Natural variant	ID=VAR_000811;Note=In vestibular schwannoma. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7951231;Dbxref=PMID:7951231
P35240	38	80	77	77	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P35240	80	121	39	121	Alternative sequence	ID=VSP_007041;Note=In isoform 4 and isoform 10. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10401006,ECO:0000303\|PubMed:11827459,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10401006,PMID:11827459,PMID:15489334
P35240	80	121	39	80	Alternative sequence	ID=VSP_007040;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11827459;Dbxref=PMID:11827459
P35240	80	121	81	121	Alternative sequence	ID=VSP_007042;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11827459;Dbxref=PMID:11827459
P35240	80	121	77	80	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZRJ
P35240	80	121	84	86	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZRJ
P35240	80	121	89	100	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	80	121	1	595	Chain	ID=PRO_0000219412;Note=Merlin
P35240	80	121	22	311	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P35240	80	121	81	83	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	80	121	105	108	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	80	121	112	127	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	80	121	96	96	Natural variant	ID=VAR_000812;Note=In NF2%3B also found in sporadic meningioma. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:7913580,ECO:0000269\|PubMed:8655144;Dbxref=PMID:7913580,PMID:8655144
P35240	80	121	106	106	Natural variant	ID=VAR_000813;Note=In NF2. E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:8081368,ECO:0000269\|PubMed:9643284;Dbxref=PMID:8081368,PMID:9643284
P35240	80	121	117	117	Natural variant	ID=VAR_000814;Note=In sporadic meningioma. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8655144;Dbxref=PMID:8655144
P35240	80	121	119	119	Natural variant	ID=VAR_000815;Note=In sporadic meningioma%3B no effect on interaction with SCHIP1. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10669747,ECO:0000269\|PubMed:7759081,ECO:0000269\|PubMed:8655144;Dbxref=PMID:10669747,PM
P35240	225	270	150	579	Alternative sequence	ID=VSP_007044;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	225	270	150	225	Alternative sequence	ID=VSP_007043;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	225	270	259	259	Alternative sequence	ID=VSP_007045;Note=In isoform 7. N->R;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	225	270	260	595	Alternative sequence	ID=VSP_007046;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	225	270	220	226	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	225	270	231	236	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	225	270	238	244	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	225	270	249	251	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	225	270	253	257	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	225	270	261	267	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	225	270	270	277	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	225	270	1	595	Chain	ID=PRO_0000219412;Note=Merlin
P35240	225	270	22	311	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P35240	225	270	258	260	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	225	270	234	234	Natural variant	ID=VAR_009123;Note=In NF2%3B also found in retinal hamartoma%3B severe. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10090912;Dbxref=PMID:10090912
P35240	270	295	150	579	Alternative sequence	ID=VSP_007044;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	270	295	260	595	Alternative sequence	ID=VSP_007046;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	270	295	270	277	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	270	295	283	286	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	270	295	1	595	Chain	ID=PRO_0000219412;Note=Merlin
P35240	270	295	22	311	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P35240	270	295	290	310	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	270	295	273	273	Natural variant	ID=VAR_000819;Note=In breast ductal carcinoma. I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8162073;Dbxref=PMID:8162073
P35240	295	333	150	579	Alternative sequence	ID=VSP_007044;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	295	333	260	595	Alternative sequence	ID=VSP_007046;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	295	333	1	595	Chain	ID=PRO_0000219412;Note=Merlin
P35240	295	333	327	465	Compositional bias	Note=Glu-rich
P35240	295	333	22	311	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P35240	295	333	290	310	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	333	374	150	579	Alternative sequence	ID=VSP_007044;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	333	374	260	595	Alternative sequence	ID=VSP_007046;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	333	374	334	379	Alternative sequence	ID=VSP_007047;Note=In isoform 10. MERQRLAREKQMREEAERTRDELERRLLQMKEEATMANEALMRSEE->GQRGRSAEAGPAGSTRGGAKSQAEAPGDCHQAHVPAHEPNSSTVAS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	333	374	335	363	Alternative sequence	ID=VSP_007048;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11827459;Dbxref=PMID:11827459
P35240	333	374	1	595	Chain	ID=PRO_0000219412;Note=Merlin
P35240	333	374	327	465	Compositional bias	Note=Glu-rich
P35240	333	374	339	339	Natural variant	ID=VAR_000820;Note=In sporadic meningioma. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8655144;Dbxref=PMID:8655144
P35240	333	374	351	351	Natural variant	ID=VAR_029041;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7951231;Dbxref=dbSNP:rs771675702,PMID:7951231
P35240	333	374	352	352	Natural variant	ID=VAR_000821;Note=In NF2. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:8081368,ECO:0000269\|PubMed:9643284;Dbxref=dbSNP:rs764441073,PMID:8081368,PMID:9643284
P35240	333	374	360	360	Natural variant	ID=VAR_000822;Note=In NF2. L->P;Dbxref=dbSNP:rs74315492
P35240	333	374	364	364	Natural variant	ID=VAR_000823;Note=In melanoma. K->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8162073;Dbxref=PMID:8162073

Lost protein functional features of individual exon skipping events in MSBB.

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
P35240	38	80	39	121	Alternative sequence	ID=VSP_007041;Note=In isoform 4 and isoform 10. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10401006,ECO:0000303\|PubMed:11827459,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10401006,PMID:11827459,PMID:15489334
P35240	38	80	39	80	Alternative sequence	ID=VSP_007040;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11827459;Dbxref=PMID:11827459
P35240	38	80	32	38	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	38	80	62	68	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	38	80	71	74	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	38	80	77	80	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZRJ
P35240	38	80	1	595	Chain	ID=PRO_0000219412;Note=Merlin
P35240	38	80	22	311	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P35240	38	80	43	54	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	38	80	59	61	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	38	80	64	64	Mutagenesis	Note=Abolishes binding to AGAP2 and interaction with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15598747,ECO:0000269\|PubMed:20178741;Dbxref=PMID:15598747,PMID
P35240	38	80	46	46	Natural variant	ID=VAR_000809;Note=In vestibular schwannoma%3B loss of ability to interact with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. L->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:20178741,ECO:0000269\|PubMed:8004107
P35240	38	80	62	62	Natural variant	ID=VAR_000810;Note=In NF2%3B loss of ability to interact with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. F->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10790209,ECO:0000269\|PubMed:2
P35240	38	80	77	77	Natural variant	ID=VAR_043011;Note=In NF2. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9643284;Dbxref=PMID:9643284
P35240	38	80	79	79	Natural variant	ID=VAR_000811;Note=In vestibular schwannoma. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7951231;Dbxref=PMID:7951231
P35240	38	80	77	77	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P35240	80	121	39	121	Alternative sequence	ID=VSP_007041;Note=In isoform 4 and isoform 10. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10401006,ECO:0000303\|PubMed:11827459,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10401006,PMID:11827459,PMID:15489334
P35240	80	121	39	80	Alternative sequence	ID=VSP_007040;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11827459;Dbxref=PMID:11827459
P35240	80	121	81	121	Alternative sequence	ID=VSP_007042;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11827459;Dbxref=PMID:11827459
P35240	80	121	77	80	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZRJ
P35240	80	121	84	86	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZRJ
P35240	80	121	89	100	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	80	121	1	595	Chain	ID=PRO_0000219412;Note=Merlin
P35240	80	121	22	311	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P35240	80	121	81	83	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	80	121	105	108	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	80	121	112	127	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	80	121	96	96	Natural variant	ID=VAR_000812;Note=In NF2%3B also found in sporadic meningioma. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:7913580,ECO:0000269\|PubMed:8655144;Dbxref=PMID:7913580,PMID:8655144
P35240	80	121	106	106	Natural variant	ID=VAR_000813;Note=In NF2. E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:8081368,ECO:0000269\|PubMed:9643284;Dbxref=PMID:8081368,PMID:9643284
P35240	80	121	117	117	Natural variant	ID=VAR_000814;Note=In sporadic meningioma. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8655144;Dbxref=PMID:8655144
P35240	80	121	119	119	Natural variant	ID=VAR_000815;Note=In sporadic meningioma%3B no effect on interaction with SCHIP1. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10669747,ECO:0000269\|PubMed:7759081,ECO:0000269\|PubMed:8655144;Dbxref=PMID:10669747,PM
P35240	270	295	150	579	Alternative sequence	ID=VSP_007044;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	270	295	260	595	Alternative sequence	ID=VSP_007046;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	270	295	270	277	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	270	295	283	286	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	270	295	1	595	Chain	ID=PRO_0000219412;Note=Merlin
P35240	270	295	22	311	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P35240	270	295	290	310	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	270	295	273	273	Natural variant	ID=VAR_000819;Note=In breast ductal carcinoma. I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8162073;Dbxref=PMID:8162073

Lost protein functional features of individual exon skipping events in Mayo.

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
P35240	38	80	39	121	Alternative sequence	ID=VSP_007041;Note=In isoform 4 and isoform 10. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10401006,ECO:0000303\|PubMed:11827459,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10401006,PMID:11827459,PMID:15489334
P35240	38	80	39	80	Alternative sequence	ID=VSP_007040;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11827459;Dbxref=PMID:11827459
P35240	38	80	32	38	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	38	80	62	68	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	38	80	71	74	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	38	80	77	80	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZRJ
P35240	38	80	1	595	Chain	ID=PRO_0000219412;Note=Merlin
P35240	38	80	22	311	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P35240	38	80	43	54	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	38	80	59	61	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	38	80	64	64	Mutagenesis	Note=Abolishes binding to AGAP2 and interaction with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15598747,ECO:0000269\|PubMed:20178741;Dbxref=PMID:15598747,PMID
P35240	38	80	46	46	Natural variant	ID=VAR_000809;Note=In vestibular schwannoma%3B loss of ability to interact with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. L->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:20178741,ECO:0000269\|PubMed:8004107
P35240	38	80	62	62	Natural variant	ID=VAR_000810;Note=In NF2%3B loss of ability to interact with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. F->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10790209,ECO:0000269\|PubMed:2
P35240	38	80	77	77	Natural variant	ID=VAR_043011;Note=In NF2. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9643284;Dbxref=PMID:9643284
P35240	38	80	79	79	Natural variant	ID=VAR_000811;Note=In vestibular schwannoma. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7951231;Dbxref=PMID:7951231
P35240	38	80	77	77	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P35240	80	121	39	121	Alternative sequence	ID=VSP_007041;Note=In isoform 4 and isoform 10. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10401006,ECO:0000303\|PubMed:11827459,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10401006,PMID:11827459,PMID:15489334
P35240	80	121	39	80	Alternative sequence	ID=VSP_007040;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11827459;Dbxref=PMID:11827459
P35240	80	121	81	121	Alternative sequence	ID=VSP_007042;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11827459;Dbxref=PMID:11827459
P35240	80	121	77	80	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZRJ
P35240	80	121	84	86	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ZRJ
P35240	80	121	89	100	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	80	121	1	595	Chain	ID=PRO_0000219412;Note=Merlin
P35240	80	121	22	311	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P35240	80	121	81	83	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	80	121	105	108	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	80	121	112	127	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	80	121	96	96	Natural variant	ID=VAR_000812;Note=In NF2%3B also found in sporadic meningioma. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:7913580,ECO:0000269\|PubMed:8655144;Dbxref=PMID:7913580,PMID:8655144
P35240	80	121	106	106	Natural variant	ID=VAR_000813;Note=In NF2. E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:8081368,ECO:0000269\|PubMed:9643284;Dbxref=PMID:8081368,PMID:9643284
P35240	80	121	117	117	Natural variant	ID=VAR_000814;Note=In sporadic meningioma. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8655144;Dbxref=PMID:8655144
P35240	80	121	119	119	Natural variant	ID=VAR_000815;Note=In sporadic meningioma%3B no effect on interaction with SCHIP1. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10669747,ECO:0000269\|PubMed:7759081,ECO:0000269\|PubMed:8655144;Dbxref=PMID:10669747,PM
P35240	225	270	150	579	Alternative sequence	ID=VSP_007044;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	225	270	150	225	Alternative sequence	ID=VSP_007043;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	225	270	259	259	Alternative sequence	ID=VSP_007045;Note=In isoform 7. N->R;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	225	270	260	595	Alternative sequence	ID=VSP_007046;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	225	270	220	226	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	225	270	231	236	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	225	270	238	244	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	225	270	249	251	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	225	270	253	257	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	225	270	261	267	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	225	270	270	277	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	225	270	1	595	Chain	ID=PRO_0000219412;Note=Merlin
P35240	225	270	22	311	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P35240	225	270	258	260	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	225	270	234	234	Natural variant	ID=VAR_009123;Note=In NF2%3B also found in retinal hamartoma%3B severe. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10090912;Dbxref=PMID:10090912
P35240	270	295	150	579	Alternative sequence	ID=VSP_007044;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	270	295	260	595	Alternative sequence	ID=VSP_007046;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	270	295	270	277	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	270	295	283	286	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	270	295	1	595	Chain	ID=PRO_0000219412;Note=Merlin
P35240	270	295	22	311	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P35240	270	295	290	310	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	270	295	273	273	Natural variant	ID=VAR_000819;Note=In breast ductal carcinoma. I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8162073;Dbxref=PMID:8162073
P35240	295	333	150	579	Alternative sequence	ID=VSP_007044;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	295	333	260	595	Alternative sequence	ID=VSP_007046;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	295	333	1	595	Chain	ID=PRO_0000219412;Note=Merlin
P35240	295	333	327	465	Compositional bias	Note=Glu-rich
P35240	295	333	22	311	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P35240	295	333	290	310	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1H4R
P35240	333	374	150	579	Alternative sequence	ID=VSP_007044;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	333	374	260	595	Alternative sequence	ID=VSP_007046;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	333	374	334	379	Alternative sequence	ID=VSP_007047;Note=In isoform 10. MERQRLAREKQMREEAERTRDELERRLLQMKEEATMANEALMRSEE->GQRGRSAEAGPAGSTRGGAKSQAEAPGDCHQAHVPAHEPNSSTVAS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10401006;Dbxref=PMID:10401006
P35240	333	374	335	363	Alternative sequence	ID=VSP_007048;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11827459;Dbxref=PMID:11827459
P35240	333	374	1	595	Chain	ID=PRO_0000219412;Note=Merlin
P35240	333	374	327	465	Compositional bias	Note=Glu-rich
P35240	333	374	339	339	Natural variant	ID=VAR_000820;Note=In sporadic meningioma. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8655144;Dbxref=PMID:8655144
P35240	333	374	351	351	Natural variant	ID=VAR_029041;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7951231;Dbxref=dbSNP:rs771675702,PMID:7951231
P35240	333	374	352	352	Natural variant	ID=VAR_000821;Note=In NF2. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:8081368,ECO:0000269\|PubMed:9643284;Dbxref=dbSNP:rs764441073,PMID:8081368,PMID:9643284
P35240	333	374	360	360	Natural variant	ID=VAR_000822;Note=In NF2. L->P;Dbxref=dbSNP:rs74315492
P35240	333	374	364	364	Natural variant	ID=VAR_000823;Note=In melanoma. K->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8162073;Dbxref=PMID:8162073

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3'-UTR located exon skipping events that lost miRNA binding sites in NF2

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for NF2

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for NF2

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for NF2

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	CNOT4	exon_skip_33813	-4.560541e-01	3.139501e-09
CB	PCBP4	exon_skip_33813	4.906430e-01	1.208702e-10
CB	TRA2A	exon_skip_33813	-5.146161e-01	1.011539e-11
CB	RBM45	exon_skip_33813	5.402192e-01	5.722614e-13
CB	NUP42	exon_skip_33813	4.240521e-01	4.702612e-08
CB	NUP42	exon_skip_232803	6.257447e-01	1.158914e-18
CB	NUP42	exon_skip_245732	4.296053e-01	1.596383e-08
DLPFC	RC3H1	exon_skip_232803	5.540594e-01	7.876707e-29
DLPFC	PTBP3	exon_skip_232803	4.482922e-01	2.916432e-18
HCC	PABPN1	exon_skip_232803	-4.204890e-01	4.021383e-13
HCC	RBM6	exon_skip_232803	-5.801352e-01	5.927182e-26
IFG	PABPN1L	exon_skip_232803	-5.448147e-01	2.719637e-03
IFG	IGF2BP2	exon_skip_232803	-4.469668e-01	1.709802e-02
PCC	RBM6	exon_skip_232803	-4.400530e-01	1.350986e-11
PG	PCBP1	exon_skip_232803	4.359080e-01	1.782184e-08
PG	HNRNPK	exon_skip_232803	5.251630e-01	3.189817e-12
PG	NUP42	exon_skip_232803	5.323680e-01	1.416763e-12
PG	PTBP3	exon_skip_232803	4.420739e-01	1.060077e-08
TC	NUP42	exon_skip_83043	6.962886e-01	1.589297e-24
TC	PTBP3	exon_skip_83043	4.914781e-01	4.134961e-11
TC	NUP42	exon_skip_289677	5.296604e-01	5.953038e-13

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RelatedDrugs for NF2

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

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

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for NF2

Gene structures and expression levels for NF2

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NF2

Open reading frame (ORF) annotation in the exon skipping event for NF2

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

3'-UTR located exon skipping events that lost miRNA binding sites in NF2

SNVs in the skipped exons for NF2

AD stage-associated exon skippint events for NF2

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

Correlation with RNA binding proteins (RBPs) for NF2

RelatedDrugs for NF2

RelatedDiseases for NF2