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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for NF1

check button Gene summary
Gene informationGene symbol

NF1

Gene ID

4763

Gene nameneurofibromin 1
SynonymsNFNS|VRNF|WSS
Cytomap

17q11.2

Type of geneprotein-coding
Descriptionneurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1
Modification date20180527
UniProtAcc

P21359

ContextPubMed: NF1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)
- Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.(9463322)
- Two independent mutations in a family with neurofibromatosis type 1 (NF1).(10076878)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
NF1

GO:0043547

positive regulation of GTPase activity

2121371


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Exon skipping events across known transcript of Ensembl for NF1 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for NF1

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for NF1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1506441729490203:29490394:29496908:29497015:29508439:2950850729496908:29497015ENSG00000196712.12ENST00000487476.1,ENST00000358273.4,ENST00000431387.4,ENST00000579081.1,ENST00000356175.3
exon_skip_1506451729509525:29509683:29527439:29527613:29528054:2952817729527439:29527613ENSG00000196712.12ENST00000487476.1,ENST00000495910.2,ENST00000358273.4,ENST00000431387.4,ENST00000579081.1,ENST00000356175.3
exon_skip_1506481729533257:29533389:29541468:29541603:29546022:2954613629541468:29541603ENSG00000196712.12ENST00000487476.1,ENST00000495910.2,ENST00000358273.4,ENST00000431387.4,ENST00000579081.1,ENST00000356175.3,ENST00000456735.2
exon_skip_1506491729546022:29546136:29548867:29548947:29550461:2955058529548867:29548947ENSG00000196712.12ENST00000495910.2,ENST00000358273.4,ENST00000579081.1,ENST00000356175.3,ENST00000456735.2
exon_skip_1506501729553452:29553702:29554235:29554309:29554540:2955462429554235:29554309ENSG00000196712.12ENST00000495910.2,ENST00000358273.4,ENST00000493220.1,ENST00000579081.1,ENST00000356175.3,ENST00000456735.2
exon_skip_1506511729556852:29556992:29557277:29557400:29557859:2955794329557277:29557400ENSG00000196712.12ENST00000495910.2,ENST00000358273.4,ENST00000493220.1,ENST00000579081.1,ENST00000356175.3,ENST00000456735.2
exon_skip_1506531729576006:29576137:29579955:29580018:29584704:2958474429579955:29580018ENSG00000196712.12ENST00000466819.1
exon_skip_1506541729576006:29576137:29579955:29580018:29585361:2958552029579955:29580018ENSG00000196712.12ENST00000358273.4
exon_skip_1506551729576006:29576137:29584704:29584744:29585361:2958552029584704:29584744ENSG00000196712.12ENST00000479614.1
exon_skip_1506561729579955:29580018:29584704:29584744:29585361:2958552029584704:29584744ENSG00000196712.12ENST00000466819.1
exon_skip_1506581729587386:29587533:29588728:29588875:29592246:2959235729588728:29588875ENSG00000196712.12ENST00000358273.4,ENST00000493220.1,ENST00000579081.1,ENST00000356175.3,ENST00000456735.2
exon_skip_1506591729592246:29592357:29626527:29626624:29652837:2965327029626527:29626624ENSG00000196712.12ENST00000579081.1
exon_skip_1506621729652837:29653270:29654516:29654857:29657313:2965751629654516:29654857ENSG00000196712.12ENST00000358273.4,ENST00000581113.2,ENST00000493220.1,ENST00000579081.1,ENST00000356175.3,ENST00000456735.2
exon_skip_1506651729654516:29654857:29657313:29657516:29661855:2966204929657313:29657516ENSG00000196712.12ENST00000358273.4,ENST00000581113.2,ENST00000579081.1,ENST00000356175.3,ENST00000456735.2
exon_skip_1506691729657346:29657516:29661681:29661748:29661855:2966204529661681:29661748ENSG00000196712.12ENST00000479536.2
exon_skip_1506701729661855:29662049:29663350:29663491:29663652:2966389129663350:29663491ENSG00000196712.12ENST00000358273.4,ENST00000479536.2,ENST00000579081.1,ENST00000356175.3,ENST00000456735.2
exon_skip_1506731729663350:29663491:29663652:29663932:29664385:2966460029663652:29663932ENSG00000196712.12ENST00000358273.4,ENST00000579081.1,ENST00000356175.3,ENST00000456735.2
exon_skip_1506741729664834:29664898:29665019:29665157:29665721:2966582329665019:29665157ENSG00000196712.12ENST00000471572.2,ENST00000444181.2
exon_skip_1506761729664836:29664898:29665042:29665157:29665721:2966582329665042:29665157ENSG00000196712.12ENST00000358273.4,ENST00000584328.1,ENST00000579081.1,ENST00000356175.3,ENST00000456735.2
exon_skip_1506791729665042:29665157:29665721:29665823:29667522:2966766329665721:29665823ENSG00000196712.12ENST00000358273.4,ENST00000471572.2,ENST00000584328.1,ENST00000444181.2,ENST00000579081.1,ENST00000356175.3,ENST00000456735.2
exon_skip_1506831729670026:29670153:29676137:29676269:29677200:2967733629676137:29676269ENSG00000196712.12ENST00000417592.2,ENST00000581790.1,ENST00000358273.4,ENST00000471572.2,ENST00000444181.2,ENST00000579081.1,ENST00000356175.3,ENST00000456735.2
exon_skip_1506841729677200:29677336:29679274:29679432:29683477:2968352929679274:29679432ENSG00000196712.12ENST00000358273.4,ENST00000471572.2,ENST00000444181.2,ENST00000579081.1,ENST00000356175.3,ENST00000456735.2
exon_skip_1506861729679274:29679432:29683477:29683600:29683977:2968410829683477:29683600ENSG00000196712.12ENST00000358273.4,ENST00000471572.2,ENST00000444181.2,ENST00000579081.1,ENST00000356175.3,ENST00000456735.2
exon_skip_1506901729687504:29687721:29694242:29694296:29701030:2970114729694242:29694296ENSG00000196712.12ENST00000456735.2
exon_skip_1506981729701030:29701147:29705905:29706041:29708890:2970890529705905:29706041ENSG00000196712.12ENST00000471572.2,ENST00000444181.2
exon_skip_1507021729705908:29706041:29706123:29706375:29708890:2970890529706123:29706375ENSG00000196712.12ENST00000422121.2

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for NF1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1506441729490203:29490394:29496908:29497015:29508439:2950850729496908:29497015ENSG00000196712.12ENST00000487476.1,ENST00000358273.4,ENST00000356175.3,ENST00000431387.4,ENST00000579081.1
exon_skip_1506451729509525:29509683:29527439:29527613:29528054:2952817729527439:29527613ENSG00000196712.12ENST00000487476.1,ENST00000358273.4,ENST00000356175.3,ENST00000431387.4,ENST00000579081.1,ENST00000495910.2
exon_skip_1506481729533257:29533389:29541468:29541603:29546022:2954613629541468:29541603ENSG00000196712.12ENST00000487476.1,ENST00000358273.4,ENST00000356175.3,ENST00000431387.4,ENST00000579081.1,ENST00000495910.2,ENST00000456735.2
exon_skip_1506491729546022:29546136:29548867:29548947:29550461:2955058529548867:29548947ENSG00000196712.12ENST00000358273.4,ENST00000356175.3,ENST00000579081.1,ENST00000495910.2,ENST00000456735.2
exon_skip_1506501729553452:29553702:29554235:29554309:29554540:2955462429554235:29554309ENSG00000196712.12ENST00000358273.4,ENST00000356175.3,ENST00000579081.1,ENST00000495910.2,ENST00000456735.2,ENST00000493220.1
exon_skip_1506511729556852:29556992:29557277:29557400:29557859:2955794329557277:29557400ENSG00000196712.12ENST00000358273.4,ENST00000356175.3,ENST00000579081.1,ENST00000495910.2,ENST00000456735.2,ENST00000493220.1
exon_skip_1506531729576006:29576137:29579955:29580018:29584704:2958474429579955:29580018ENSG00000196712.12ENST00000466819.1
exon_skip_1506541729576006:29576137:29579955:29580018:29585361:2958552029579955:29580018ENSG00000196712.12ENST00000358273.4
exon_skip_1506551729576006:29576137:29584704:29584744:29585361:2958552029584704:29584744ENSG00000196712.12ENST00000479614.1
exon_skip_1506561729579955:29580018:29584704:29584744:29585361:2958552029584704:29584744ENSG00000196712.12ENST00000466819.1
exon_skip_1506581729587386:29587533:29588728:29588875:29592246:2959235729588728:29588875ENSG00000196712.12ENST00000358273.4,ENST00000356175.3,ENST00000579081.1,ENST00000456735.2,ENST00000493220.1
exon_skip_1506591729592246:29592357:29626527:29626624:29652837:2965327029626527:29626624ENSG00000196712.12ENST00000579081.1
exon_skip_1506621729652837:29653270:29654516:29654857:29657313:2965751629654516:29654857ENSG00000196712.12ENST00000358273.4,ENST00000356175.3,ENST00000579081.1,ENST00000456735.2,ENST00000493220.1,ENST00000581113.2
exon_skip_1506651729654516:29654857:29657313:29657516:29661855:2966204929657313:29657516ENSG00000196712.12ENST00000358273.4,ENST00000356175.3,ENST00000579081.1,ENST00000456735.2,ENST00000581113.2
exon_skip_1506691729657346:29657516:29661681:29661748:29661855:2966204529661681:29661748ENSG00000196712.12ENST00000479536.2
exon_skip_1506701729661855:29662049:29663350:29663491:29663652:2966389129663350:29663491ENSG00000196712.12ENST00000358273.4,ENST00000356175.3,ENST00000579081.1,ENST00000456735.2,ENST00000479536.2
exon_skip_1506731729663350:29663491:29663652:29663932:29664385:2966460029663652:29663932ENSG00000196712.12ENST00000358273.4,ENST00000356175.3,ENST00000579081.1,ENST00000456735.2
exon_skip_1506741729664834:29664898:29665019:29665157:29665721:2966582329665019:29665157ENSG00000196712.12ENST00000471572.2,ENST00000444181.2
exon_skip_1506761729664836:29664898:29665042:29665157:29665721:2966582329665042:29665157ENSG00000196712.12ENST00000358273.4,ENST00000356175.3,ENST00000579081.1,ENST00000456735.2,ENST00000584328.1
exon_skip_1506791729665042:29665157:29665721:29665823:29667522:2966766329665721:29665823ENSG00000196712.12ENST00000358273.4,ENST00000356175.3,ENST00000579081.1,ENST00000456735.2,ENST00000584328.1,ENST00000471572.2,ENST00000444181.2
exon_skip_1506831729670026:29670153:29676137:29676269:29677200:2967733629676137:29676269ENSG00000196712.12ENST00000358273.4,ENST00000356175.3,ENST00000579081.1,ENST00000456735.2,ENST00000581790.1,ENST00000471572.2,ENST00000444181.2,ENST00000417592.2
exon_skip_1506841729677200:29677336:29679274:29679432:29683477:2968352929679274:29679432ENSG00000196712.12ENST00000358273.4,ENST00000356175.3,ENST00000579081.1,ENST00000456735.2,ENST00000471572.2,ENST00000444181.2
exon_skip_1506861729679274:29679432:29683477:29683600:29683977:2968410829683477:29683600ENSG00000196712.12ENST00000358273.4,ENST00000356175.3,ENST00000579081.1,ENST00000456735.2,ENST00000471572.2,ENST00000444181.2
exon_skip_1506901729687504:29687721:29694242:29694296:29701030:2970114729694242:29694296ENSG00000196712.12ENST00000456735.2
exon_skip_1506981729701030:29701147:29705905:29706041:29708890:2970890529705905:29706041ENSG00000196712.12ENST00000471572.2,ENST00000444181.2
exon_skip_1507021729705908:29706041:29706123:29706375:29708890:2970890529706123:29706375ENSG00000196712.12ENST00000422121.2

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for NF1

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003582732949690829497015Frame-shift
ENST000003582732954886729548947Frame-shift
ENST000003582732955423529554309Frame-shift
ENST000003582732965451629654857Frame-shift
ENST000003582732965731329657516Frame-shift
ENST000003582732966365229663932Frame-shift
ENST000003582732966504229665157Frame-shift
ENST000003582732967927429679432Frame-shift
ENST000003582732952743929527613In-frame
ENST000003582732954146829541603In-frame
ENST000003582732955727729557400In-frame
ENST000003582732957995529580018In-frame
ENST000003582732958872829588875In-frame
ENST000003582732966335029663491In-frame
ENST000003582732966572129665823In-frame
ENST000003582732967613729676269In-frame
ENST000003582732968347729683600In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003582732949690829497015Frame-shift
ENST000003582732954886729548947Frame-shift
ENST000003582732955423529554309Frame-shift
ENST000003582732965451629654857Frame-shift
ENST000003582732965731329657516Frame-shift
ENST000003582732966365229663932Frame-shift
ENST000003582732966504229665157Frame-shift
ENST000003582732967927429679432Frame-shift
ENST000003582732952743929527613In-frame
ENST000003582732954146829541603In-frame
ENST000003582732955727729557400In-frame
ENST000003582732957995529580018In-frame
ENST000003582732958872829588875In-frame
ENST000003582732966335029663491In-frame
ENST000003582732966572129665823In-frame
ENST000003582732967613729676269In-frame
ENST000003582732968347729683600In-frame

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Infer the effects of exon skipping event on protein functional features for NF1

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000358273124422839295274392952761312721445296354
ENST00000358273124422839295414682954160317761910464509
ENST000003582731244228392955727729557400337434969971037
ENST0000035827312442283929579955295800184494455613701391
ENST0000035827312442283929588728295888754961510715261574
ENST0000035827312442283929663350296634916390653020022049
ENST0000035827312442283929665721296658237203730422732307
ENST0000035827312442283929676137296762697573770423962440
ENST0000035827312442283929683477296836007999812125382579

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000358273124422839295274392952761312721445296354
ENST00000358273124422839295414682954160317761910464509
ENST000003582731244228392955727729557400337434969971037
ENST0000035827312442283929579955295800184494455613701391
ENST0000035827312442283929588728295888754961510715261574
ENST0000035827312442283929663350296634916390653020022049
ENST0000035827312442283929665721296658237203730422732307
ENST0000035827312442283929676137296762697573770423962440
ENST0000035827312442283929683477296836007999812125382579

check button 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 featureDescription of feature
P2135929635422839ChainID=PRO_0000010773;Note=Neurofibromin
P2135929635421305ChainID=PRO_0000010774;Note=Neurofibromin truncated
P21359296354324324Natural variantID=VAR_032463;Note=In NF1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15060124;Dbxref=dbSNP:rs199474735,PMID:15060124
P21359296354330330Natural variantID=VAR_067201;Note=In a cutaneous neurofibroma from a patient with neurofibromatosis%3B somatic mutation. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22108604;Dbxref=dbSNP:rs199474767,PMID:22108604
P21359296354337337Natural variantID=VAR_032464;Note=In NF1. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15060124;Dbxref=dbSNP:rs199474736,PMID:15060124
P21359296354338338Natural variantID=VAR_010990;Note=In NF1. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9298829;Dbxref=dbSNP:rs199474773,PMID:9298829
P2135946450922839ChainID=PRO_0000010773;Note=Neurofibromin
P2135946450921305ChainID=PRO_0000010774;Note=Neurofibromin truncated
P21359464509489489Natural variantID=VAR_032465;Note=In NF1. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15060124;Dbxref=dbSNP:rs137854557,PMID:15060124
P21359464509491491Natural variantID=VAR_021734;Note=In NF1. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10712197;Dbxref=dbSNP:rs199474757,PMID:10712197
P21359464509508508Natural variantID=VAR_010991;Note=In NF1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11258625;Dbxref=dbSNP:rs137854558,PMID:11258625
P21359464509496496Sequence conflictNote=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P21359464509496496Sequence conflictNote=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P2135999710375522839Alternative sequenceID=VSP_001630;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1339276;Dbxref=PMID:1339276
P2135999710375942839Alternative sequenceID=VSP_043468;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7570581;Dbxref=PMID:7570581
P21359997103722839ChainID=PRO_0000010773;Note=Neurofibromin
P21359997103721305ChainID=PRO_0000010774;Note=Neurofibromin truncated
P21359997103710351035Natural variantID=VAR_002657;Note=In NF1. M->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8807336;Dbxref=dbSNP:rs137854553,PMID:8807336
P21359137013915522839Alternative sequenceID=VSP_001630;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1339276;Dbxref=PMID:1339276
P21359137013915942839Alternative sequenceID=VSP_043468;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7570581;Dbxref=PMID:7570581
P213591370139113711391Alternative sequenceID=VSP_001628;Note=In isoform 1 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:1457041,ECO:0000303|PubMed:1783401,ECO:0000303|PubMed:1923522,ECO:0000303|PubMed:21142
P213591370139122839ChainID=PRO_0000010773;Note=Neurofibromin
P213591370139112351451DomainNote=Ras-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00167
P213591370139113611370HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NF1
P21359152615745522839Alternative sequenceID=VSP_001630;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1339276;Dbxref=PMID:1339276
P21359152615745942839Alternative sequenceID=VSP_043468;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7570581;Dbxref=PMID:7570581
P213591526157422839ChainID=PRO_0000010773;Note=Neurofibromin
P213591526157415351544HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NF1
P213591526157415691578HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P7Z
P21359200220495522839Alternative sequenceID=VSP_001630;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1339276;Dbxref=PMID:1339276
P21359200220495942839Alternative sequenceID=VSP_043468;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7570581;Dbxref=PMID:7570581
P213592002204915992839Alternative sequenceID=VSP_001632;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2121370;Dbxref=PMID:2121370
P213592002204922839ChainID=PRO_0000010773;Note=Neurofibromin
P213592002204920122012Natural variantID=VAR_021763;Note=In NF1. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11735023;Dbxref=dbSNP:rs199474783,PMID:11735023
P21359227323075522839Alternative sequenceID=VSP_001630;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1339276;Dbxref=PMID:1339276
P21359227323075942839Alternative sequenceID=VSP_043468;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7570581;Dbxref=PMID:7570581
P213592273230715992839Alternative sequenceID=VSP_001632;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2121370;Dbxref=PMID:2121370
P213592273230722839ChainID=PRO_0000010773;Note=Neurofibromin
P21359239624405522839Alternative sequenceID=VSP_001630;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1339276;Dbxref=PMID:1339276
P21359239624405942839Alternative sequenceID=VSP_043468;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7570581;Dbxref=PMID:7570581
P213592396244015992839Alternative sequenceID=VSP_001632;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2121370;Dbxref=PMID:2121370
P213592396244022839ChainID=PRO_0000010773;Note=Neurofibromin
P21359253825795522839Alternative sequenceID=VSP_001630;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1339276;Dbxref=PMID:1339276
P21359253825795942839Alternative sequenceID=VSP_043468;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7570581;Dbxref=PMID:7570581
P213592538257915992839Alternative sequenceID=VSP_001632;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2121370;Dbxref=PMID:2121370
P213592538257922839ChainID=PRO_0000010773;Note=Neurofibromin
P213592538257925432543Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:21406692,PMID:23186163,PMID
P213592538257925652565Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P213592538257925552571MotifNote=Bipartite nuclear localization signal


check button 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 featureDescription of feature
P2135929635422839ChainID=PRO_0000010773;Note=Neurofibromin
P2135929635421305ChainID=PRO_0000010774;Note=Neurofibromin truncated
P21359296354324324Natural variantID=VAR_032463;Note=In NF1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15060124;Dbxref=dbSNP:rs199474735,PMID:15060124
P21359296354330330Natural variantID=VAR_067201;Note=In a cutaneous neurofibroma from a patient with neurofibromatosis%3B somatic mutation. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22108604;Dbxref=dbSNP:rs199474767,PMID:22108604
P21359296354337337Natural variantID=VAR_032464;Note=In NF1. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15060124;Dbxref=dbSNP:rs199474736,PMID:15060124
P21359296354338338Natural variantID=VAR_010990;Note=In NF1. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9298829;Dbxref=dbSNP:rs199474773,PMID:9298829
P2135946450922839ChainID=PRO_0000010773;Note=Neurofibromin
P2135946450921305ChainID=PRO_0000010774;Note=Neurofibromin truncated
P21359464509489489Natural variantID=VAR_032465;Note=In NF1. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15060124;Dbxref=dbSNP:rs137854557,PMID:15060124
P21359464509491491Natural variantID=VAR_021734;Note=In NF1. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10712197;Dbxref=dbSNP:rs199474757,PMID:10712197
P21359464509508508Natural variantID=VAR_010991;Note=In NF1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11258625;Dbxref=dbSNP:rs137854558,PMID:11258625
P21359464509496496Sequence conflictNote=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P21359464509496496Sequence conflictNote=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P2135999710375522839Alternative sequenceID=VSP_001630;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1339276;Dbxref=PMID:1339276
P2135999710375942839Alternative sequenceID=VSP_043468;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7570581;Dbxref=PMID:7570581
P21359997103722839ChainID=PRO_0000010773;Note=Neurofibromin
P21359997103721305ChainID=PRO_0000010774;Note=Neurofibromin truncated
P21359997103710351035Natural variantID=VAR_002657;Note=In NF1. M->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8807336;Dbxref=dbSNP:rs137854553,PMID:8807336
P21359137013915522839Alternative sequenceID=VSP_001630;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1339276;Dbxref=PMID:1339276
P21359137013915942839Alternative sequenceID=VSP_043468;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7570581;Dbxref=PMID:7570581
P213591370139113711391Alternative sequenceID=VSP_001628;Note=In isoform 1 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:1457041,ECO:0000303|PubMed:1783401,ECO:0000303|PubMed:1923522,ECO:0000303|PubMed:21142
P213591370139122839ChainID=PRO_0000010773;Note=Neurofibromin
P213591370139112351451DomainNote=Ras-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00167
P213591370139113611370HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NF1
P21359152615745522839Alternative sequenceID=VSP_001630;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1339276;Dbxref=PMID:1339276
P21359152615745942839Alternative sequenceID=VSP_043468;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7570581;Dbxref=PMID:7570581
P213591526157422839ChainID=PRO_0000010773;Note=Neurofibromin
P213591526157415351544HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NF1
P213591526157415691578HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P7Z
P21359200220495522839Alternative sequenceID=VSP_001630;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1339276;Dbxref=PMID:1339276
P21359200220495942839Alternative sequenceID=VSP_043468;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7570581;Dbxref=PMID:7570581
P213592002204915992839Alternative sequenceID=VSP_001632;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2121370;Dbxref=PMID:2121370
P213592002204922839ChainID=PRO_0000010773;Note=Neurofibromin
P213592002204920122012Natural variantID=VAR_021763;Note=In NF1. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11735023;Dbxref=dbSNP:rs199474783,PMID:11735023
P21359227323075522839Alternative sequenceID=VSP_001630;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1339276;Dbxref=PMID:1339276
P21359227323075942839Alternative sequenceID=VSP_043468;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7570581;Dbxref=PMID:7570581
P213592273230715992839Alternative sequenceID=VSP_001632;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2121370;Dbxref=PMID:2121370
P213592273230722839ChainID=PRO_0000010773;Note=Neurofibromin
P21359239624405522839Alternative sequenceID=VSP_001630;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1339276;Dbxref=PMID:1339276
P21359239624405942839Alternative sequenceID=VSP_043468;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7570581;Dbxref=PMID:7570581
P213592396244015992839Alternative sequenceID=VSP_001632;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2121370;Dbxref=PMID:2121370
P213592396244022839ChainID=PRO_0000010773;Note=Neurofibromin
P21359253825795522839Alternative sequenceID=VSP_001630;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1339276;Dbxref=PMID:1339276
P21359253825795942839Alternative sequenceID=VSP_043468;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7570581;Dbxref=PMID:7570581
P213592538257915992839Alternative sequenceID=VSP_001632;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2121370;Dbxref=PMID:2121370
P213592538257922839ChainID=PRO_0000010773;Note=Neurofibromin
P213592538257925432543Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:21406692,PMID:23186163,PMID
P213592538257925652565Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P213592538257925552571MotifNote=Bipartite nuclear localization signal


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SNVs in the skipped exons for NF1

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
NF1_LUAD_exon_skip_150665_psi_boxplot.png
boxplot
NF1_LUAD_exon_skip_150679_psi_boxplot.png
boxplot
NF1_LUSC_exon_skip_150679_psi_boxplot.png
boxplot
NF1_PCPG_exon_skip_150648_psi_boxplot.png
boxplot
NF1_SKCM_exon_skip_150648_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
GBMTCGA-28-2502-01exon_skip_150644
29496909294970152949692429496927Frame_Shift_DelTGTT-p.T165fs
BRCATCGA-AN-A0AL-01exon_skip_150644
29496909294970152949696329496964Frame_Shift_DelAT-p.E178fs
PCPGTCGA-RW-A688-01exon_skip_150644
29496909294970152949699329496993Frame_Shift_DelA-p.A188fs
BRCATCGA-E2-A1LS-01exon_skip_150645
29527440295276132952750229527503Frame_Shift_DelAG-p.E318fs
LUADTCGA-55-7724-01exon_skip_150645
29527440295276132952750229527503Frame_Shift_DelAG-p.T317fs
LUADTCGA-55-7724-01exon_skip_150645
29527440295276132952750229527503Frame_Shift_DelAG-p.TE317fs
GBMTCGA-28-6450-01exon_skip_150645
29527440295276132952756829527569Frame_Shift_DelCT-p.N339fs
LGGTCGA-HT-A4DS-01exon_skip_150645
29527440295276132952756829527569Frame_Shift_DelCT-p.339_339del
LGGTCGA-HT-A4DS-01exon_skip_150645
29527440295276132952756829527569Frame_Shift_DelCT-p.NS339fs
GBMTCGA-06-2562-01exon_skip_150648
29541469295416032954147629541476Frame_Shift_DelC-p.T467fs
LIHCTCGA-DD-A3A3-01exon_skip_150648
29541469295416032954151229541512Frame_Shift_DelA-p.E479fs
LGGTCGA-DU-6402-01exon_skip_150649
29548868295489472954890129548901Frame_Shift_DelG-p.D559fs
LGGTCGA-DU-6402-01exon_skip_150649
29548868295489472954890129548901Frame_Shift_DelG-p.I558fs
COADTCGA-AZ-4615-01exon_skip_150653
exon_skip_150654
29579956295800182957999629579996Frame_Shift_DelA-p.E1384fs
PCPGTCGA-RW-A689-01exon_skip_150658
29588729295888752958874329588743Frame_Shift_DelT-p.V1531fs
KIRCTCGA-A3-A6NN-01exon_skip_150658
29588729295888752958875229588752Frame_Shift_DelG-p.R1534fs
LIHCTCGA-DD-A39Y-01exon_skip_150662
29654517296548572965476529654765Frame_Shift_DelC-p.I1839fs
LIHCTCGA-G3-A3CJ-01exon_skip_150662
29654517296548572965476529654765Frame_Shift_DelC-p.I1839fs
LIHCTCGA-DD-A3A0-01exon_skip_150665
29657314296575162965741829657418Frame_Shift_DelC-p.T1905fs
UCECTCGA-AX-A06H-01exon_skip_150665
29657314296575162965748029657480Frame_Shift_DelT-p.F1926fs
LUADTCGA-44-7667-01exon_skip_150665
29657314296575162965748729657487Frame_Shift_DelA-p.E1929fs
LIHCTCGA-DD-A39Y-01exon_skip_150673
29663653296639322966374429663744Frame_Shift_DelT-p.I2080fs
SKCMTCGA-GN-A8LK-06exon_skip_150673
29663653296639322966378929663789Frame_Shift_DelA-p.D2095fs
LGGTCGA-DB-A4XG-01exon_skip_150679
29665722296658232966575229665755Frame_Shift_DelACTT-p.2283_2284del
LGGTCGA-DB-A4XG-01exon_skip_150679
29665722296658232966575229665755Frame_Shift_DelACTT-p.TY2284fs
GBMTCGA-06-0184-01exon_skip_150679
29665722296658232966580829665808Frame_Shift_DelG-p.Q2302fs
PCPGTCGA-WB-A81P-01exon_skip_150683
29676138296762692967617429676177Frame_Shift_DelCAGT-p.TV2409fs
LUADTCGA-69-7978-01exon_skip_150683
29676138296762692967618729676187Frame_Shift_DelA-p.L2413fs
ACCTCGA-OR-A5LA-01exon_skip_150683
29676138296762692967620129676202Frame_Shift_DelCT-p.2418_2418del
LUADTCGA-73-4676-01exon_skip_150683
29676138296762692967620929676209Frame_Shift_DelA-p.N2421fs
LUADTCGA-50-6593-01exon_skip_150684
29679275296794322967943029679430Frame_Shift_DelT-p.L2538fs
LIHCTCGA-DD-A39Y-01exon_skip_150686
29683478296836002968355829683558Frame_Shift_DelC-p.P2567fs
LIHCTCGA-DD-A3A0-01exon_skip_150686
29683478296836002968355829683558Frame_Shift_DelC-p.P2567fs
LIHCTCGA-DD-A1EG-01exon_skip_150686
29683478296836002968356429683564Frame_Shift_DelA-p.K2568fs
GBMTCGA-76-6657-01exon_skip_150686
29683478296836002968359029683590Frame_Shift_DelT-p.D2576fs
SARCTCGA-DX-AB30-01exon_skip_150645
29527440295276132952747029527471Frame_Shift_Ins-Tp.A308fs
SARCTCGA-DX-AB30-01exon_skip_150645
29527440295276132952747029527471Frame_Shift_Ins-Tp.C307fs
LGGTCGA-S9-A89V-01exon_skip_150645
29527440295276132952752629527527Frame_Shift_Ins-Ap.T326fs
LGGTCGA-S9-A6UA-01exon_skip_150645
29527440295276132952757029527571Frame_Shift_Ins-Tp.C340fs
SKCMTCGA-FS-A4F4-06exon_skip_150645
29527440295276132952757029527571Frame_Shift_Ins-Tp.C340fs
SKCMTCGA-FS-A4F4-06exon_skip_150645
29527440295276132952757029527571Frame_Shift_Ins-Tp.S340fs
PCPGTCGA-S7-A7WM-01exon_skip_150648
29541469295416032954154829541549Frame_Shift_Ins-TTp.S491fs
PCPGTCGA-S7-A7WM-01exon_skip_150648
29541469295416032954154829541549Frame_Shift_Ins-TTp.Y491fs
SARCTCGA-SI-A71P-01exon_skip_150648
29541469295416032954158729541588Frame_Shift_Ins-Ap.L506fs
SARCTCGA-SI-A71P-01exon_skip_150648
29541469295416032954158729541588Frame_Shift_Ins-Ap.Q504fs
LIHCTCGA-BC-A112-01exon_skip_150653
exon_skip_150654
29579956295800182958000929580010Frame_Shift_Ins-Ap.KK1388fs
GBMTCGA-74-6575-01exon_skip_150662
29654517296548572965467729654678Frame_Shift_Ins-Cp.L1810fs
LUADTCGA-49-6767-01exon_skip_150662
29654517296548572965474129654742Frame_Shift_Ins-Tp.*T1831fs
LUADTCGA-49-6767-01exon_skip_150662
29654517296548572965474129654742Frame_Shift_Ins-Tp.W1831fs
ACCTCGA-OR-A5JW-01exon_skip_150662
29654517296548572965482829654829Frame_Shift_Ins-Ap.L1860fs
LIHCTCGA-DD-A4NS-01exon_skip_150665
29657314296575162965749329657494Frame_Shift_Ins-TTp.Y1930fs
OVTCGA-24-1562-01exon_skip_150673
29663653296639322966378929663790Frame_Shift_Ins-Tp.V2096fs
BRCATCGA-A2-A0YL-01exon_skip_150673
29663653296639322966385929663860Frame_Shift_Ins-Cp.R2118fs
LUADTCGA-97-7553-01exon_skip_150679
29665722296658232966575529665756Frame_Shift_Ins-Ap.Q2285fs
LUADTCGA-97-7553-01exon_skip_150679
29665722296658232966575529665756Frame_Shift_Ins-Ap.Y2285fs
UCECTCGA-BG-A0M6-01exon_skip_150686
29683478296836002968349029683491Frame_Shift_Ins-Tp.S2543fs
KIRCTCGA-AK-3453-01exon_skip_150686
29683478296836002968355729683558Frame_Shift_Ins-Cp.TP2565fs
UCECTCGA-B5-A0K2-01exon_skip_150686
29683478296836002968355729683558Frame_Shift_Ins-Cp.T2565fs
UCECTCGA-BG-A0M9-01exon_skip_150686
29683478296836002968355729683558Frame_Shift_Ins-Cp.T2565fs
UCECTCGA-BS-A0UM-01exon_skip_150686
29683478296836002968355729683558Frame_Shift_Ins-Cp.T2565fs
GBMTCGA-06-0210-02exon_skip_150644
29496909294970152949700329497003Nonsense_MutationCTp.R192*
GBMTCGA-76-6663-01exon_skip_150644
29496909294970152949700329497003Nonsense_MutationCTp.R192*
STADTCGA-HU-A4GT-01exon_skip_150644
29496909294970152949700329497003Nonsense_MutationCTp.R192*
STADTCGA-HU-A4GT-01exon_skip_150644
29496909294970152949700329497003Nonsense_MutationCTp.R192X
ESCATCGA-IG-A5B8-01exon_skip_150645
29527440295276132952746129527461Nonsense_MutationCTp.R304*
ESCATCGA-IG-A5B8-01exon_skip_150645
29527440295276132952746129527461Nonsense_MutationCTp.R304X
LUADTCGA-17-Z055-01exon_skip_150645
29527440295276132952746129527461Nonsense_MutationCTp.R304*
SKCMTCGA-D9-A6EC-06exon_skip_150645
29527440295276132952748229527482Nonsense_MutationGTp.G311*
LUSCTCGA-66-2782-01exon_skip_150645
29527440295276132952755829527558Nonsense_MutationGAp.W336*
SKCMTCGA-FR-A8YC-06exon_skip_150645
29527440295276132952755829527558Nonsense_MutationGAp.W336*
SKCMTCGA-FR-A8YC-06exon_skip_150645
29527440295276132952755929527559Nonsense_MutationGAp.W336*
BRCATCGA-D8-A1JN-01exon_skip_150645
29527440295276132952759029527590Nonsense_MutationCTp.Q347*
SKCMTCGA-FW-A3R5-06exon_skip_150645
29527440295276132952759029527590Nonsense_MutationCTp.Q347*
SKCMTCGA-FW-A3R5-06exon_skip_150645
29527440295276132952759029527590Nonsense_MutationCTp.Q347X
BLCATCGA-DK-A6AW-01exon_skip_150648
29541469295416032954148429541484Nonsense_MutationGTp.E470*
SKCMTCGA-YD-A9TA-06exon_skip_150648
29541469295416032954154929541549Nonsense_MutationTAp.Y491*
LUADTCGA-44-7667-01exon_skip_150648
29541469295416032954155729541557Nonsense_MutationTAp.L494*
BRCATCGA-A2-A04Q-01exon_skip_150649
29548868295489472954893929548939Nonsense_MutationGAp.W571*
BLCATCGA-BT-A3PH-01exon_skip_150650
29554236295543092955425029554250Nonsense_MutationCTp.Q756*
BLCATCGA-XF-AAN5-01exon_skip_150650
29554236295543092955425029554250Nonsense_MutationCTp.Q756*
SKCMTCGA-DA-A95Z-06exon_skip_150650
29554236295543092955425029554250Nonsense_MutationCTp.Q756*
BLCATCGA-4Z-AA84-01exon_skip_150651
29557278295574002955731529557315Nonsense_MutationCTp.Q1010*
GBMTCGA-14-0871-01exon_skip_150651
29557278295574002955733629557336Nonsense_MutationCTp.Q1017*
GBMTCGA-19-5953-01exon_skip_150658
29588729295888752958875129588751Nonsense_MutationCTp.R1534*
LUADTCGA-17-Z015-01exon_skip_150662
29654517296548572965466429654664Nonsense_MutationCTp.Q1806*
GBMTCGA-41-6646-01exon_skip_150662
29654517296548572965469129654691Nonsense_MutationCTp.Q1815*
LUADTCGA-55-8205-01exon_skip_150662
29654517296548572965469129654691Nonsense_MutationCTp.Q1815*
SKCMTCGA-FR-A726-01exon_skip_150662
29654517296548572965469129654691Nonsense_MutationCTp.Q1815*
SKCMTCGA-EE-A29L-06exon_skip_150662
29654517296548572965471229654712Nonsense_MutationCTp.Q1801X
SKCMTCGA-EE-A29L-06exon_skip_150662
29654517296548572965471229654712Nonsense_MutationCTp.Q1822*
PCPGTCGA-WB-A81V-01exon_skip_150665
29657314296575162965733829657338Nonsense_MutationTAp.C1878*
PCPGTCGA-WB-A81V-01exon_skip_150665
29657314296575162965733829657338Nonsense_MutationTAp.C1878X
HNSCTCGA-CQ-5324-01exon_skip_150665
29657314296575162965737529657375Nonsense_MutationCTp.Q1891*
LUADTCGA-69-7765-01exon_skip_150670
29663351296634912966341429663414Nonsense_MutationGTp.G2024*
BLCATCGA-XF-AAMG-01exon_skip_150673
29663653296639322966371329663713Nonsense_MutationGTp.E2070*
LGGTCGA-DU-6402-01exon_skip_150673
29663653296639322966374729663747Nonsense_MutationTGp.L2060X
LGGTCGA-DU-6402-01exon_skip_150673
29663653296639322966374729663747Nonsense_MutationTGp.L2081*
LGGTCGA-S9-A89V-01exon_skip_150674
exon_skip_150676
29665020296651572966504129665041Nonsense_MutationATp.R28*
SKCMTCGA-EE-A2GC-06exon_skip_150674
exon_skip_150676
29665020296651572966505329665053Nonsense_MutationCTp.Q2218X
SKCMTCGA-EE-A2GC-06exon_skip_150674
exon_skip_150676
29665020296651572966505329665053Nonsense_MutationCTp.Q2239*
SKCMTCGA-EE-A2GC-06exon_skip_150674
exon_skip_150676
29665043296651572966505329665053Nonsense_MutationCTp.Q2218X
SKCMTCGA-EE-A2GC-06exon_skip_150674
exon_skip_150676
29665043296651572966505329665053Nonsense_MutationCTp.Q2239*
SKCMTCGA-EE-A2GI-06exon_skip_150674
exon_skip_150676
29665020296651572966505329665053Nonsense_MutationCTp.Q2218X
SKCMTCGA-EE-A2GI-06exon_skip_150674
exon_skip_150676
29665020296651572966505329665053Nonsense_MutationCTp.Q2239*
SKCMTCGA-EE-A2GI-06exon_skip_150674
exon_skip_150676
29665043296651572966505329665053Nonsense_MutationCTp.Q2218X
SKCMTCGA-EE-A2GI-06exon_skip_150674
exon_skip_150676
29665043296651572966505329665053Nonsense_MutationCTp.Q2239*
LUSCTCGA-85-6175-01exon_skip_150679
29665722296658232966575729665757Nonsense_MutationCAp.Y2285*
SKCMTCGA-EB-A82B-01exon_skip_150679
29665722296658232966575729665757Nonsense_MutationCGp.Y2285*
LUSCTCGA-60-2707-01exon_skip_150684
29679275296794322967929129679291Nonsense_MutationCTp.Q2492*
BLCATCGA-DK-AA6P-01exon_skip_150684
29679275296794322967931829679318Nonsense_MutationGTp.E2501*
SKCMTCGA-GN-A266-06exon_skip_150684
29679275296794322967936629679366Nonsense_MutationCTp.R2496X
SKCMTCGA-GN-A266-06exon_skip_150684
29679275296794322967936629679366Nonsense_MutationCTp.R2517*
BLCATCGA-BT-A2LB-01exon_skip_150684
29679275296794322967940829679408Nonsense_MutationCTp.Q2531*
LGGTCGA-DU-5847-01exon_skip_150644
29496909294970152949701629497016Splice_SiteGA.
PCPGTCGA-QR-A6GS-01exon_skip_150648
29541469295416032954160429541604Splice_SiteGT.
SKCMTCGA-EE-A2MT-06exon_skip_150662
29654517296548572965485829654858Splice_SiteGA.
SKCMTCGA-EE-A3J5-06exon_skip_150662
29654517296548572965485829654858Splice_SiteGA.
LUADTCGA-44-2659-01exon_skip_150665
29657314296575162965751829657518Splice_SiteTAp.S1938_splice
GBMTCGA-32-1980-01exon_skip_150670
29663351296634912966334929663349Splice_SiteAGp.I2003_splice
LGGTCGA-DU-6397-01exon_skip_150670
29663351296634912966335029663350Splice_SiteGC.
LUSCTCGA-66-2788-01exon_skip_150670
29663351296634912966335029663350Splice_SiteGTp.I2003_splice
COADTCGA-G4-6628-01exon_skip_150684
29679275296794322967943329679433Splice_SiteGA.
SKCMTCGA-EB-A41A-01exon_skip_150684
29679275296794322967943329679433Splice_SiteGA.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
NF1_29665042_29665157_29665721_29665823_29667522_29667663_TCGA-85-6175-01Sample: TCGA-85-6175-01
Cancer type: LUSC
ESID: exon_skip_150679
Skipped exon start: 29665722
Skipped exon end: 29665823
Mutation start: 29665757
Mutation end: 29665757
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.Y2285*
exon_skip_150679_LUSC_TCGA-85-6175-01.png
boxplot
NF1_29654516_29654857_29657313_29657516_29661855_29662049_TCGA-44-2659-01Sample: TCGA-44-2659-01
Cancer type: LUAD
ESID: exon_skip_150665
Skipped exon start: 29657314
Skipped exon end: 29657516
Mutation start: 29657518
Mutation end: 29657518
Mutation type: Splice_Site
Reference seq: T
Mutation seq: A
AAchange: p.S1938_splice
exon_skip_150665_LUAD_TCGA-44-2659-01.png
boxplot
exon_skip_28826_LUAD_TCGA-44-2659-01.png
boxplot
exon_skip_347690_LUAD_TCGA-44-2659-01.png
boxplot
NF1_29576006_29576137_29579955_29580018_29585361_29585520_TCGA-AZ-4615-01Sample: TCGA-AZ-4615-01
Cancer type: COAD
ESID: exon_skip_150654
Skipped exon start: 29579956
Skipped exon end: 29580018
Mutation start: 29579996
Mutation end: 29579996
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.E1384fs
exon_skip_150654_COAD_TCGA-AZ-4615-01.png
boxplot
exon_skip_474385_COAD_TCGA-AZ-4615-01.png
boxplot
exon_skip_504288_COAD_TCGA-AZ-4615-01.png
boxplot
exon_skip_78356_COAD_TCGA-AZ-4615-01.png
boxplot
exon_skip_78375_COAD_TCGA-AZ-4615-01.png
boxplot
exon_skip_78386_COAD_TCGA-AZ-4615-01.png
boxplot
NF1_29533257_29533389_29541468_29541603_29546022_29546136_TCGA-QR-A6GS-01Sample: TCGA-QR-A6GS-01
Cancer type: PCPG
ESID: exon_skip_150648
Skipped exon start: 29541469
Skipped exon end: 29541603
Mutation start: 29541604
Mutation end: 29541604
Mutation type: Splice_Site
Reference seq: G
Mutation seq: T
AAchange: .
exon_skip_150648_PCPG_TCGA-QR-A6GS-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HCC1359_LUNG29557278295574002955738229557382Frame_Shift_DelG-p.C1032fs
MDAMB175VII_BREAST29665722296658232966575229665755Frame_Shift_DelACTT-p.TY2284fs
NEC8_TESTIS29665722296658232966575229665755Frame_Shift_DelACTT-p.TY2284fs
KINGS1_CENTRAL_NERVOUS_SYSTEM29679275296794322967934829679348Frame_Shift_DelG-p.V2511fs
NCIH1838_LUNG29496909294970152949697729496978Frame_Shift_Ins-Ap.N184fs
MDAMB231_BREAST29541469295416032954147429541475Frame_Shift_Ins-Cp.T467fs
NCIH630_LARGE_INTESTINE29527440295276132952752229527522Missense_MutationGAp.C324Y
NCIH82_LUNG29527440295276132952754429527544Missense_MutationTGp.S331R
EFM192A_BREAST29527440295276132952759229527592Missense_MutationGTp.Q347H
ANGMCSS_CENTRAL_NERVOUS_SYSTEM29527440295276132952759329527594Missense_MutationTCGTp.S348V
NCIH2882_LUNG29541469295416032954154229541542Missense_MutationAGp.Y489C
SCC4_UPPER_AERODIGESTIVE_TRACT29541469295416032954157229541572Missense_MutationTCp.L499P
PLCPRF5_LIVER29554236295543092955427829554278Missense_MutationGTp.R765L
BICR18_UPPER_AERODIGESTIVE_TRACT29579956295800182957999929579999Missense_MutationAGp.K1385R
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29579956295800182957999929579999Missense_MutationAGp.K1385R
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29579956295800182957999929579999Missense_MutationAGp.K1385R
GMEL_SKIN29579956295800182957999929579999Missense_MutationAGp.K1385R
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29579956295800182957999929579999Missense_MutationAGp.K1385R
EN_ENDOMETRIUM29579956295800182958000229580002Missense_MutationAGp.K1386R
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29588729295888752958874529588745Missense_MutationGAp.G1532R
MELJUSO_SKIN29654517296548572965458429654584Missense_MutationTCp.L1779P
NCIH3122_LUNG29654517296548572965471829654718Missense_MutationAGp.I1824V
NCIH1373_LUNG29654517296548572965472929654729Missense_MutationCGp.I1827M
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29654517296548572965476929654769Missense_MutationCAp.Q1841K
RT112_URINARY_TRACT29654517296548572965478029654780Missense_MutationGTp.K1844N
RT11284_URINARY_TRACT29654517296548572965478029654780Missense_MutationGTp.K1844N
SNU81_LARGE_INTESTINE29657314296575162965747229657472Missense_MutationCTp.T1923M
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29663351296634912966343829663438Missense_MutationGTp.A2032S
HCC1438_LUNG29663351296634912966346329663463Missense_MutationCTp.S2040F
NCIH1734_LUNG29663653296639322966369029663690Missense_MutationGAp.C2062Y
HEC108_ENDOMETRIUM29663653296639322966380429663804Missense_MutationTCp.L2100P
TE11_OESOPHAGUS29665722296658232966574929665749Missense_MutationGAp.D2283N
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29679275296794322967935129679351Missense_MutationGAp.G2512S
KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29679275296794322967942129679421Missense_MutationATp.K2535M
HT115_LARGE_INTESTINE29683478296836002968349629683496Missense_MutationAGp.D2545G
FTC133_THYROID29496909294970152949693029496930Nonsense_MutationTAp.C167*
JHUEM1_ENDOMETRIUM29496909294970152949700329497003Nonsense_MutationCTp.R192*
KS1_CENTRAL_NERVOUS_SYSTEM29496909294970152949700329497003Nonsense_MutationCTp.R192*
GB1_CENTRAL_NERVOUS_SYSTEM29527440295276132952746129527461Nonsense_MutationCTp.R304*
CP67MEL_SKIN29554236295543092955425029554250Nonsense_MutationCTp.Q756*
D247MG_CENTRAL_NERVOUS_SYSTEM29588729295888752958875129588751Nonsense_MutationCTp.R1534*
SLR25_KIDNEY29588729295888752958875129588751Nonsense_MutationCTp.R1534*
YKG1_CENTRAL_NERVOUS_SYSTEM29654517296548572965460529654605Nonsense_MutationCAp.S1786*
LCLC103H_LUNG29654517296548572965475129654751Nonsense_MutationCTp.Q1835*
JHUEM7_ENDOMETRIUM29665020296651572966511029665110Nonsense_MutationCTp.R2258*
JHUEM7_ENDOMETRIUM29665043296651572966511029665110Nonsense_MutationCTp.R2258*
D542MG_CENTRAL_NERVOUS_SYSTEM29683478296836002968350829683508Nonsense_MutationCGp.S2549*
TGW_AUTONOMIC_GANGLIA29679275296794322967925529679278Splice_SiteCTATTGTTTTCATCTTTCAGGACA-p.TI2486del

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NF1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_1506981729701030:29701147:29705905:29706041:29708890:2970890529705905:29706041ENST00000471572.2,ENST00000444181.2LGGrs2525574chr17:29705947T/C6.26e-05
exon_skip_1506981729701030:29701147:29705905:29706041:29708890:2970890529705905:29706041ENST00000471572.2,ENST00000444181.2LUADrs2525574chr17:29705947T/C2.64e-05
exon_skip_1506981729701030:29701147:29705905:29706041:29708890:2970890529705905:29706041ENST00000471572.2,ENST00000444181.2LUSCrs2525574chr17:29705947T/C1.13e-05
exon_skip_1506981729701030:29701147:29705905:29706041:29708890:2970890529705905:29706041ENST00000471572.2,ENST00000444181.2SARCrs2525574chr17:29705947T/C1.10e-03
exon_skip_1506981729701030:29701147:29705905:29706041:29708890:2970890529705905:29706041ENST00000471572.2,ENST00000444181.2THCArs2525574chr17:29705947T/C6.54e-06

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NF1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NF1


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RelatedDrugs for NF1

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for NF1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
NF1C0027831Neurofibromatosis 134CTD_human;ORPHANET;UNIPROT
NF1C2931482Neurofibromatosis-Noonan syndrome5CTD_human;ORPHANET;UNIPROT
NF1C0349639Juvenile Myelomonocytic Leukemia3CTD_human;HPO;ORPHANET
NF1C0004114Astrocytoma2CTD_human;HPO
NF1C0023467Leukemia, Myelocytic, Acute2CTD_human
NF1C0025202melanoma2CTD_human
NF1C0206727Nerve Sheath Tumors2CTD_human
NF1C0001430Adenoma1CTD_human
NF1C0004352Autistic Disorder1CTD_human
NF1C0016057Fibrosarcoma1CTD_human
NF1C0017636Glioblastoma1CTD_human
NF1C0017638Glioma1CTD_human
NF1C0023186Learning Disorders1CTD_human
NF1C0023827liposarcoma1CTD_human
NF1C0027809Neurilemmoma1CTD_human
NF1C0027830neurofibroma1CTD_human
NF1C0027962Melanocytic nevus1CTD_human
NF1C0031511Pheochromocytoma1CTD_human
NF1C0162678Neurofibromatoses1CTD_human;HPO
NF1C1261473Sarcoma1CTD_human
NF1C1834235NEUROFIBROMATOSIS, FAMILIAL SPINAL1CTD_human;UNIPROT
NF1C3714756Intellectual Disability1CTD_human;HPO