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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 NFASC

check button Gene summary
Gene informationGene symbol

NFASC

Gene ID

23114

Gene nameneurofascin
SynonymsNF|NRCAML
Cytomap

1q32.1

Type of geneprotein-coding
Descriptionneurofascinneurofascin homolog
Modification date20180522
UniProtAcc

O94856

ContextPubMed: NFASC [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

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

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Exon skipping events across known transcript of Ensembl for NFASC 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 NFASC

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 NFASC

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_170361204797822:204797910:204889759:204889868:204913353:204913534204889759:204889868ENSG00000163531.11ENST00000367169.4,ENST00000539706.1,ENST00000403080.1,ENST00000367171.4,ENST00000338515.6,ENST00000367170.4,ENST00000367172.4,ENST00000360049.4,ENST00000338586.6,ENST00000339876.6
exon_skip_170401204839731:204839828:204889759:204889868:204913353:204913534204889759:204889868ENSG00000163531.11ENST00000493914.1
exon_skip_170411204839989:204840198:204889759:204889868:204913353:204913534204889759:204889868ENSG00000163531.11ENST00000514644.1
exon_skip_170421204913353:204913534:204915439:204915457:204921138:204921244204915439:204915457ENSG00000163531.11ENST00000367169.4,ENST00000338515.6,ENST00000367170.4,ENST00000367172.4,ENST00000338586.6
exon_skip_170431204913515:204913534:204919684:204919702:204921138:204921244204919684:204919702ENSG00000163531.11ENST00000504476.1,ENST00000505079.1,ENST00000446412.1,ENST00000403080.1,ENST00000401399.1,ENST00000339876.6
exon_skip_170441204926822:204926954:204931235:204931286:204937376:204937488204931235:204931286ENSG00000163531.11ENST00000504476.1,ENST00000539706.1,ENST00000514644.1,ENST00000430393.1,ENST00000404907.1,ENST00000360049.4,ENST00000513543.1
exon_skip_170451204931235:204931286:204936972:204937185:204937376:204937488204936972:204937185ENSG00000163531.11ENST00000404977.2
exon_skip_170461204945798:204945923:204946808:204946853:204948095:204948197204946808:204946853ENSG00000163531.11ENST00000367169.4,ENST00000504476.1,ENST00000338515.6,ENST00000367170.4,ENST00000367173.3,ENST00000401399.1,ENST00000430393.1,ENST00000367172.4,ENST00000404977.2,ENST00000338586.6,ENST00000339876.6
exon_skip_170471204945798:204945923:204948095:204948197:204948489:204948687204948095:204948197ENSG00000163531.11ENST00000539706.1,ENST00000404076.1,ENST00000367171.4,ENST00000404907.1,ENST00000360049.4,ENST00000513543.1,ENST00000512826.1
exon_skip_170491204951011:204951148:204953154:204953270:204955037:204955242204953154:204953270ENSG00000163531.11ENST00000504476.1,ENST00000539706.1,ENST00000404076.1,ENST00000367171.4,ENST00000338515.6,ENST00000367170.4,ENST00000430393.1,ENST00000367172.4,ENST00000404907.1,ENST00000360049.4,ENST00000513543.1,ENST00000338586.6,ENST00000512826.1
exon_skip_170521204951011:204951148:204955037:204955242:204956545:204956668204955037:204955242ENSG00000163531.11ENST00000404977.2
exon_skip_170541204953154:204953270:204955037:204955242:204956545:204956668204955037:204955242ENSG00000163531.11ENST00000504476.1,ENST00000539706.1,ENST00000404076.1,ENST00000367171.4,ENST00000338515.6,ENST00000367170.4,ENST00000430393.1,ENST00000367172.4,ENST00000404907.1,ENST00000360049.4,ENST00000513543.1,ENST00000338586.6,ENST00000512826.1
exon_skip_170571204957791:204957934:204960419:204960434:204966297:204966534204960419:204960434ENSG00000163531.11ENST00000492085.1,ENST00000401399.1,ENST00000339876.6
exon_skip_170591204957791:204957934:204960419:204960434:204970297:204970398204960419:204960434ENSG00000163531.11ENST00000413225.1
exon_skip_170601204957791:204957934:204960419:204960434:204978684:204978816204960419:204960434ENSG00000163531.11ENST00000539706.1,ENST00000404076.1,ENST00000367173.3,ENST00000430393.1,ENST00000404907.1
exon_skip_170691204957791:204957934:204971723:204971876:204978684:204978816204971723:204971876ENSG00000163531.11ENST00000495396.1,ENST00000338586.6
exon_skip_170721204960419:204960434:204966297:204966534:204970297:204970398204966297:204966534ENSG00000163531.11ENST00000401399.1,ENST00000339876.6
exon_skip_170871204970297:204970414:204971723:204971876:204978684:204978816204971723:204971876ENSG00000163531.11ENST00000367171.4,ENST00000367170.4,ENST00000413225.1,ENST00000401399.1,ENST00000367172.4,ENST00000339876.6

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

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Exon skipping events with PSIs in GTEx for NFASC

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_170361204797822:204797910:204889759:204889868:204913353:204913534204889759:204889868ENSG00000163531.11ENST00000367172.4,ENST00000367171.4,ENST00000367170.4,ENST00000338515.6,ENST00000339876.6,ENST00000338586.6,ENST00000539706.1,ENST00000360049.4,ENST00000367169.4,ENST00000403080.1
exon_skip_170401204839731:204839828:204889759:204889868:204913353:204913534204889759:204889868ENSG00000163531.11ENST00000493914.1
exon_skip_170411204839989:204840198:204889759:204889868:204913353:204913534204889759:204889868ENSG00000163531.11ENST00000514644.1
exon_skip_170431204913515:204913534:204919684:204919702:204921138:204921244204919684:204919702ENSG00000163531.11ENST00000339876.6,ENST00000446412.1,ENST00000403080.1,ENST00000401399.1,ENST00000505079.1,ENST00000504476.1
exon_skip_170441204926822:204926954:204931235:204931286:204937376:204937488204931235:204931286ENSG00000163531.11ENST00000539706.1,ENST00000360049.4,ENST00000514644.1,ENST00000404907.1,ENST00000513543.1,ENST00000504476.1,ENST00000430393.1
exon_skip_170451204931235:204931286:204936972:204937185:204937376:204937488204936972:204937185ENSG00000163531.11ENST00000404977.2
exon_skip_170461204945798:204945923:204946808:204946853:204948095:204948197204946808:204946853ENSG00000163531.11ENST00000404977.2,ENST00000367172.4,ENST00000367170.4,ENST00000338515.6,ENST00000339876.6,ENST00000338586.6,ENST00000367169.4,ENST00000401399.1,ENST00000504476.1,ENST00000430393.1,ENST00000367173.3
exon_skip_170471204945798:204945923:204948095:204948197:204948489:204948687204948095:204948197ENSG00000163531.11ENST00000367171.4,ENST00000539706.1,ENST00000360049.4,ENST00000404076.1,ENST00000404907.1,ENST00000513543.1,ENST00000512826.1
exon_skip_170491204951011:204951148:204953154:204953270:204955037:204955242204953154:204953270ENSG00000163531.11ENST00000367172.4,ENST00000367171.4,ENST00000367170.4,ENST00000338515.6,ENST00000338586.6,ENST00000539706.1,ENST00000360049.4,ENST00000404076.1,ENST00000404907.1,ENST00000513543.1,ENST00000504476.1,ENST00000430393.1,ENST00000512826.1
exon_skip_170521204951011:204951148:204955037:204955242:204956545:204956668204955037:204955242ENSG00000163531.11ENST00000404977.2
exon_skip_170541204953154:204953270:204955037:204955242:204956545:204956668204955037:204955242ENSG00000163531.11ENST00000367172.4,ENST00000367171.4,ENST00000367170.4,ENST00000338515.6,ENST00000338586.6,ENST00000539706.1,ENST00000360049.4,ENST00000404076.1,ENST00000404907.1,ENST00000513543.1,ENST00000504476.1,ENST00000430393.1,ENST00000512826.1
exon_skip_170571204957791:204957934:204960419:204960434:204966297:204966534204960419:204960434ENSG00000163531.11ENST00000339876.6,ENST00000401399.1,ENST00000492085.1
exon_skip_170591204957791:204957934:204960419:204960434:204970297:204970398204960419:204960434ENSG00000163531.11ENST00000413225.1
exon_skip_170601204957791:204957934:204960419:204960434:204978684:204978816204960419:204960434ENSG00000163531.11ENST00000539706.1,ENST00000404076.1,ENST00000404907.1,ENST00000430393.1,ENST00000367173.3
exon_skip_170691204957791:204957934:204971723:204971876:204978684:204978816204971723:204971876ENSG00000163531.11ENST00000338586.6,ENST00000495396.1
exon_skip_170721204960419:204960434:204966297:204966534:204970297:204970398204966297:204966534ENSG00000163531.11ENST00000339876.6,ENST00000401399.1
exon_skip_170871204970297:204970414:204971723:204971876:204978684:204978816204971723:204971876ENSG00000163531.11ENST00000367172.4,ENST00000367171.4,ENST00000367170.4,ENST00000339876.6,ENST00000401399.1,ENST00000413225.1

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 NFASC

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

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

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

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

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

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


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


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SNVs in the skipped exons for NFASC

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.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A39Y-01exon_skip_17047
204948096204948197204948110204948110Frame_Shift_DelC-p.P631fs
BLCATCGA-ZF-AA4V-01exon_skip_17047
204948096204948197204948193204948194Frame_Shift_DelCA-p.T659fs
COADTCGA-CM-4743-01exon_skip_17069
exon_skip_17087
204971724204971876204971735204971735Frame_Shift_DelA-p.T1049fs
LIHCTCGA-BC-A3KG-01exon_skip_17069
exon_skip_17087
204971724204971876204971735204971735Frame_Shift_DelA-p.K1158fs
LIHCTCGA-BC-A3KG-01exon_skip_17069
exon_skip_17087
204971724204971876204971735204971735Frame_Shift_DelA-p.T1049fs
LIHCTCGA-DD-A39Y-01exon_skip_17069
exon_skip_17087
204971724204971876204971735204971735Frame_Shift_DelA-p.K1158fs
LIHCTCGA-DD-A3A0-01exon_skip_17069
exon_skip_17087
204971724204971876204971735204971735Frame_Shift_DelA-p.K1158fs
LIHCTCGA-DD-A3A0-01exon_skip_17069
exon_skip_17087
204971724204971876204971826204971826Frame_Shift_DelG-p.R1187fs
LIHCTCGA-BC-A112-01exon_skip_17072
204966298204966534204966311204966312Frame_Shift_Ins-Cp.FP1039fs
SKCMTCGA-DA-A1HW-06exon_skip_17046
204946809204946853204946814204946814Nonsense_MutationCTp.Q613*
SKCMTCGA-FW-A3R5-06exon_skip_17049
204953155204953270204953222204953222Nonsense_MutationGAp.W846*
SKCMTCGA-FW-A3R5-06exon_skip_17049
204953155204953270204953222204953222Nonsense_MutationGAp.W857X
UCECTCGA-BS-A0UV-01exon_skip_17043
204919685204919702204919703204919703Splice_SiteGAe2+1
LUADTCGA-75-6214-01exon_skip_17069
exon_skip_17087
204971724204971876204971877204971877Splice_SiteGTp.A1097_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
NFASC_204957791_204957934_204971723_204971876_204978684_204978816_TCGA-BC-A3KG-01Sample: TCGA-BC-A3KG-01
Cancer type: LIHC
ESID: exon_skip_17087
Skipped exon start: 204971724
Skipped exon end: 204971876
Mutation start: 204971735
Mutation end: 204971735
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.T1049fs
NFASC_204957791_204957934_204971723_204971876_204978684_204978816_TCGA-BC-A3KG-01Sample: TCGA-BC-A3KG-01
Cancer type: LIHC
ESID: exon_skip_17087
Skipped exon start: 204971724
Skipped exon end: 204971876
Mutation start: 204971735
Mutation end: 204971735
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.K1158fs
exon_skip_107008_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_107009_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_107010_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_10760_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_11532_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_123519_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_17069_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_300924_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_346623_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_374970_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_387350_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_423555_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_441299_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_441300_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_444819_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_450818_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_456987_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_459274_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_494352_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_64409_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_64412_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_69788_LIHC_TCGA-BC-A3KG-01.png
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exon_skip_98384_LIHC_TCGA-BC-A3KG-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
SW48_LARGE_INTESTINE204948096204948197204948101204948101Missense_MutationCTp.P628S
AN3CA_ENDOMETRIUM204948096204948197204948146204948146Missense_MutationAGp.S643G
FTC133_THYROID204948096204948197204948152204948152Missense_MutationCTp.R645W
NCIH358_LUNG204948096204948197204948167204948167Missense_MutationCGp.P650A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE204953155204953270204953193204953193Missense_MutationACp.M816L
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE204953155204953270204953195204953195Missense_MutationGAp.M816I
NCIH1930_LUNG204953155204953270204953253204953253Missense_MutationCAp.Q836K
EW8_BONE204955038204955242204955110204955110Missense_MutationCAp.P866T
RH1_SOFT_TISSUE204955038204955242204955110204955110Missense_MutationCAp.P866T
22RV1_PROSTATE204955038204955242204955141204955141Missense_MutationGAp.R876H
RCM1_LARGE_INTESTINE204955038204955242204955141204955141Missense_MutationGAp.R876H
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE204955038204955242204955162204955162Missense_MutationAGp.Y883C
UMUC6_URINARY_TRACT204955038204955242204955206204955206Missense_MutationCTp.R898C
ESS1_ENDOMETRIUM204955038204955242204955206204955206Missense_MutationCTp.R898C
HEC108_ENDOMETRIUM204955038204955242204955206204955206Missense_MutationCTp.R898C
GAK_SKIN204955038204955242204955210204955210Missense_MutationGAp.S899N
HCC1395_BREAST204955038204955242204955231204955231Missense_MutationCGp.T906S
HKA1_SKIN204955038204955242204955233204955233Missense_MutationCAp.P907T
HEYA8_OVARY204966298204966534204966316204966316Missense_MutationCAp.P934Q
SNU245_BILIARY_TRACT204966298204966534204966316204966316Missense_MutationCTp.P934L
C2BBE1_LARGE_INTESTINE204966298204966534204966381204966381Missense_MutationGAp.E956K
HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE204966298204966534204966381204966381Missense_MutationGAp.E956K
LS411N_LARGE_INTESTINE204966298204966534204966415204966415Missense_MutationCTp.A967V
A253_SALIVARY_GLAND204966298204966534204966448204966448Missense_MutationCTp.A978V
SNU489_CENTRAL_NERVOUS_SYSTEM204966298204966534204966475204966475Missense_MutationCTp.A987V
MDAMB453_BREAST204971724204971876204971729204971729Missense_MutationCTp.H1048Y
COLO824_BREAST204971724204971876204971760204971760Missense_MutationACp.Q1058P
NUGC4_STOMACH204971724204971876204971771204971771Missense_MutationAGp.I1062V
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE204971724204971876204971790204971790Missense_MutationATp.Y1068F
HEC6_ENDOMETRIUM204971724204971876204971805204971805Missense_MutationAGp.Y1073C
HEC1_ENDOMETRIUM204966298204966534204966533204966533Splice_SiteCTp.S1006S
BEN_LUNG204971724204971876204971876204971876Splice_SiteGAp.A1097T

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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


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


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RelatedDrugs for NFASC

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 NFASC

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
NFASCC0036341Schizophrenia1PSYGENET