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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 NASP

check button Gene summary
Gene informationGene symbol

NASP

Gene ID

4678

Gene namenuclear autoantigenic sperm protein
SynonymsFLB7527|HMDRA1|PRO1999
Cytomap

1p34.1

Type of geneprotein-coding
Descriptionnuclear autoantigenic sperm proteinNASP histone chaperonehistone H1-binding proteinnuclear autoantigenic sperm protein (histone-binding)
Modification date20180523
UniProtAcc

P49321

ContextPubMed: NASP [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
NASP

GO:0006335

DNA replication-dependent nucleosome assembly

14718166

NASP

GO:0006336

DNA replication-independent nucleosome assembly

14718166


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Exon skipping events across known transcript of Ensembl for NASP 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 NASP

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 NASP

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5829146049779:46049877:46054322:46054620:46056894:4605694246054322:46054620ENSG00000132780.12ENST00000530840.1
exon_skip_5830146049779:46049877:46056894:46056942:46067926:4606795046056894:46056942ENSG00000132780.12ENST00000372052.4,ENST00000350030.3,ENST00000437901.2,ENST00000464190.2,ENST00000534101.1,ENST00000351223.3
exon_skip_5831146049779:46049877:46056894:46056942:46078840:4607892046056894:46056942ENSG00000132780.12ENST00000527359.1
exon_skip_5833146056894:46056942:46060365:46060445:46066056:4606612946060365:46060445ENSG00000132780.12ENST00000531532.1
exon_skip_5834146056894:46056942:46060365:46060445:46067926:4606795046060365:46060445ENSG00000132780.12ENST00000528084.1
exon_skip_5835146056894:46056942:46066056:46066129:46067926:4606795046066056:46066129ENSG00000132780.12ENST00000437362.2,ENST00000402363.3,ENST00000529333.1,ENST00000453748.1
exon_skip_5836146056894:46056942:46067926:46068037:46070607:4607063746067926:46068037ENSG00000132780.12ENST00000350030.3,ENST00000437901.2,ENST00000464190.2,ENST00000534101.1,ENST00000351223.3
exon_skip_5837146056894:46056942:46067926:46068037:46072153:4607220446067926:46068037ENSG00000132780.12ENST00000372052.4
exon_skip_5839146056894:46056942:46070607:46070688:46072153:4607220446070607:46070688ENSG00000132780.12ENST00000470768.1
exon_skip_5840146056894:46056942:46072153:46072263:46078840:4607892046072153:46072263ENSG00000132780.12ENST00000528238.1
exon_skip_5846146056894:46056942:46078840:46078920:46079767:4607978946078840:46078920ENSG00000132780.12ENST00000527359.1
exon_skip_5851146060365:46060445:46066056:46066129:46067926:4606795046066056:46066129ENSG00000132780.12ENST00000531532.1
exon_skip_5852146067926:46068037:46070588:46070688:46072153:4607220446070588:46070688ENSG00000132780.12ENST00000529333.1
exon_skip_5853146067926:46068037:46070607:46070688:46072153:4607220446070607:46070688ENSG00000132780.12ENST00000437362.2,ENST00000402363.3,ENST00000528084.1,ENST00000350030.3,ENST00000437901.2,ENST00000464190.2,ENST00000525515.1,ENST00000351223.3,ENST00000453748.1
exon_skip_5854146067926:46068037:46072153:46072263:46078840:4607892046072153:46072263ENSG00000132780.12ENST00000372052.4
exon_skip_5861146072188:46072263:46072992:46074009:46078840:4607892046072992:46074009ENSG00000132780.12ENST00000402363.3,ENST00000350030.3,ENST00000537798.1,ENST00000453748.1
exon_skip_5865146072188:46072263:46078840:46078920:46079767:4607978946078840:46078920ENSG00000132780.12ENST00000437362.2,ENST00000372052.4,ENST00000437901.2,ENST00000525515.1,ENST00000351223.3,ENST00000528238.1
exon_skip_5871146078840:46078920:46079767:46079853:46079964:4608002246079767:46079853ENSG00000132780.12ENST00000437362.2,ENST00000402363.3,ENST00000372052.4,ENST00000481782.1,ENST00000530073.1,ENST00000531612.1,ENST00000350030.3,ENST00000527359.1,ENST00000437901.2,ENST00000537798.1,ENST00000351223.3,ENST00000528238.1,ENST00000453748.1
exon_skip_5877146082008:46082065:46082297:46082375:46083134:4608319746082297:46082375ENSG00000132780.12ENST00000402363.3,ENST00000372052.4,ENST00000481782.1,ENST00000530073.1,ENST00000350030.3,ENST00000537798.1,ENST00000351223.3
exon_skip_5880146082008:46082065:46082297:46082375:46083732:4608388546082297:46082375ENSG00000132780.12ENST00000534450.1
exon_skip_5888146082008:46082065:46082372:46082375:46083134:4608319746082372:46082375ENSG00000132780.12ENST00000531612.1
exon_skip_5908146082372:46082375:46083134:46083263:46083732:4608388546083134:46083263ENSG00000132780.12ENST00000402363.3,ENST00000372052.4,ENST00000481782.1,ENST00000530073.1,ENST00000531612.1,ENST00000350030.3,ENST00000537798.1,ENST00000351223.3

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

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Exon skipping events with PSIs in GTEx for NASP

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5829146049779:46049877:46054322:46054620:46056894:4605694246054322:46054620ENSG00000132780.12ENST00000530840.1
exon_skip_5830146049779:46049877:46056894:46056942:46067926:4606795046056894:46056942ENSG00000132780.12ENST00000437901.2,ENST00000464190.2,ENST00000534101.1,ENST00000350030.3,ENST00000372052.4,ENST00000351223.3
exon_skip_5831146049779:46049877:46056894:46056942:46078840:4607892046056894:46056942ENSG00000132780.12ENST00000527359.1
exon_skip_5833146056894:46056942:46060365:46060445:46066056:4606612946060365:46060445ENSG00000132780.12ENST00000531532.1
exon_skip_5834146056894:46056942:46060365:46060445:46067926:4606795046060365:46060445ENSG00000132780.12ENST00000528084.1
exon_skip_5835146056894:46056942:46066056:46066129:46067926:4606795046066056:46066129ENSG00000132780.12ENST00000437362.2,ENST00000529333.1,ENST00000453748.1,ENST00000402363.3
exon_skip_5836146056894:46056942:46067926:46068037:46070607:4607063746067926:46068037ENSG00000132780.12ENST00000437901.2,ENST00000464190.2,ENST00000534101.1,ENST00000350030.3,ENST00000351223.3
exon_skip_5837146056894:46056942:46067926:46068037:46072153:4607220446067926:46068037ENSG00000132780.12ENST00000372052.4
exon_skip_5839146056894:46056942:46070607:46070688:46072153:4607220446070607:46070688ENSG00000132780.12ENST00000470768.1
exon_skip_5840146056894:46056942:46072153:46072263:46078840:4607892046072153:46072263ENSG00000132780.12ENST00000528238.1
exon_skip_5846146056894:46056942:46078840:46078920:46079767:4607978946078840:46078920ENSG00000132780.12ENST00000527359.1
exon_skip_5851146060365:46060445:46066056:46066129:46067926:4606795046066056:46066129ENSG00000132780.12ENST00000531532.1
exon_skip_5852146067926:46068037:46070588:46070688:46072153:4607220446070588:46070688ENSG00000132780.12ENST00000529333.1
exon_skip_5853146067926:46068037:46070607:46070688:46072153:4607220446070607:46070688ENSG00000132780.12ENST00000437901.2,ENST00000437362.2,ENST00000464190.2,ENST00000528084.1,ENST00000525515.1,ENST00000453748.1,ENST00000402363.3,ENST00000350030.3,ENST00000351223.3
exon_skip_5854146067926:46068037:46072153:46072263:46078840:4607892046072153:46072263ENSG00000132780.12ENST00000372052.4
exon_skip_5861146072188:46072263:46072992:46074009:46078840:4607892046072992:46074009ENSG00000132780.12ENST00000453748.1,ENST00000537798.1,ENST00000402363.3,ENST00000350030.3
exon_skip_5865146072188:46072263:46078840:46078920:46079767:4607978946078840:46078920ENSG00000132780.12ENST00000437901.2,ENST00000437362.2,ENST00000525515.1,ENST00000528238.1,ENST00000372052.4,ENST00000351223.3
exon_skip_5871146078840:46078920:46079767:46079853:46079964:4608002246079767:46079853ENSG00000132780.12ENST00000437901.2,ENST00000437362.2,ENST00000527359.1,ENST00000453748.1,ENST00000537798.1,ENST00000402363.3,ENST00000528238.1,ENST00000350030.3,ENST00000372052.4,ENST00000351223.3,ENST00000530073.1,ENST00000481782.1,ENST00000531612.1
exon_skip_5877146082008:46082065:46082297:46082375:46083134:4608319746082297:46082375ENSG00000132780.12ENST00000537798.1,ENST00000402363.3,ENST00000350030.3,ENST00000372052.4,ENST00000351223.3,ENST00000530073.1,ENST00000481782.1
exon_skip_5880146082008:46082065:46082297:46082375:46083732:4608388546082297:46082375ENSG00000132780.12ENST00000534450.1
exon_skip_5888146082008:46082065:46082372:46082375:46083134:4608319746082372:46082375ENSG00000132780.12ENST00000531612.1
exon_skip_5908146082372:46082375:46083134:46083263:46083732:4608388546083134:46083263ENSG00000132780.12ENST00000537798.1,ENST00000402363.3,ENST00000350030.3,ENST00000372052.4,ENST00000351223.3,ENST00000530073.1,ENST00000481782.1,ENST00000531612.1

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 NASP

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
ENST000003500304607976746079853Frame-shift
ENST000003500304605689446056942In-frame
ENST000003500304606792646068037In-frame
ENST000003500304607060746070688In-frame
ENST000003500304607299246074009In-frame
ENST000003500304608229746082375In-frame
ENST000003500304608313446083263In-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
ENST000003500304607976746079853Frame-shift
ENST000003500304605689446056942In-frame
ENST000003500304606792646068037In-frame
ENST000003500304607060746070688In-frame
ENST000003500304607299246074009In-frame
ENST000003500304608229746082375In-frame
ENST000003500304608313446083263In-frame

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

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
ENST00000350030322478846056894460569421471942035
ENST00000350030322478846067926460680371953053672
ENST00000350030322478846070607460706883063867399
ENST00000350030322478846072992460740094971513136475
ENST000003500303224788460822974608237521672244693719
ENST000003500303224788460831344608326322452373719762

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
ENST00000350030322478846056894460569421471942035
ENST00000350030322478846067926460680371953053672
ENST00000350030322478846070607460706883063867399
ENST00000350030322478846072992460740094971513136475
ENST000003500303224788460822974608237521672244693719
ENST000003500303224788460831344608326322452373719762

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 NASP

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.
NASP_BRCA_exon_skip_5861_psi_boxplot.png
boxplot
NASP_COAD_exon_skip_5861_psi_boxplot.png
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NASP_HNSC_exon_skip_5861_psi_boxplot.png
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NASP_KIRP_exon_skip_5861_psi_boxplot.png
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NASP_LIHC_exon_skip_5861_psi_boxplot.png
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NASP_STAD_exon_skip_5861_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
LIHCTCGA-DD-A3A0-01exon_skip_5837
exon_skip_5836
46067927460680374606798746067987Frame_Shift_DelG-p.M56fs
LIHCTCGA-DD-A3A0-01exon_skip_5861
46072993460740094607300246073002Frame_Shift_DelG-p.R140fs
LIHCTCGA-G3-A3CJ-01exon_skip_5861
46072993460740094607304146073041Frame_Shift_DelA-p.E153fs
COADTCGA-G4-6588-01exon_skip_5861
46072993460740094607305546073055Frame_Shift_DelA-p.A93fs
LIHCTCGA-DD-A39Y-01exon_skip_5861
46072993460740094607305546073055Frame_Shift_DelA-p.A157fs
LIHCTCGA-DD-A39Y-01exon_skip_5861
46072993460740094607305546073055Frame_Shift_DelA-p.K159fs
STADTCGA-BR-4257-01exon_skip_5861
46072993460740094607305546073055Frame_Shift_DelA-p.A157fs
STADTCGA-BR-8372-01exon_skip_5861
46072993460740094607305546073055Frame_Shift_DelA-p.A157fs
LIHCTCGA-DD-AAC8-01exon_skip_5865
exon_skip_5846
46078841460789204607884846078855Frame_Shift_DelAGGCTCAG-p.478_480del
LIHCTCGA-DD-A39Y-01exon_skip_5908
46083135460832634608321346083213Frame_Shift_DelG-p.G746fs
KIRPTCGA-2Z-A9JE-01exon_skip_5861
46072993460740094607320546073206Frame_Shift_Ins-Ap.E208fs
HNSCTCGA-BA-4075-01exon_skip_5861
46072993460740094607352946073529Nonsense_MutationGTp.E316*
BRCATCGA-AN-A0XU-01exon_skip_5861
46072993460740094607299246072992Splice_SiteGCe6-1

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
NASP_46072188_46072263_46072992_46074009_46078840_46078920_TCGA-AN-A0XU-01Sample: TCGA-AN-A0XU-01
Cancer type: BRCA
ESID: exon_skip_5861
Skipped exon start: 46072993
Skipped exon end: 46074009
Mutation start: 46072992
Mutation end: 46072992
Mutation type: Splice_Site
Reference seq: G
Mutation seq: C
AAchange: e6-1
exon_skip_475336_BRCA_TCGA-AN-A0XU-01.png
boxplot
exon_skip_5861_BRCA_TCGA-AN-A0XU-01.png
boxplot
NASP_46072188_46072263_46072992_46074009_46078840_46078920_TCGA-BA-4075-01Sample: TCGA-BA-4075-01
Cancer type: HNSC
ESID: exon_skip_5861
Skipped exon start: 46072993
Skipped exon end: 46074009
Mutation start: 46073529
Mutation end: 46073529
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: T
AAchange: p.E316*
exon_skip_5861_HNSC_TCGA-BA-4075-01.png
boxplot
NASP_46072188_46072263_46072992_46074009_46078840_46078920_TCGA-G4-6588-01Sample: TCGA-G4-6588-01
Cancer type: COAD
ESID: exon_skip_5861
Skipped exon start: 46072993
Skipped exon end: 46074009
Mutation start: 46073055
Mutation end: 46073055
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.A93fs
exon_skip_135806_COAD_TCGA-G4-6588-01.png
boxplot
exon_skip_136696_COAD_TCGA-G4-6588-01.png
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exon_skip_313058_COAD_TCGA-G4-6588-01.png
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exon_skip_322889_COAD_TCGA-G4-6588-01.png
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exon_skip_322890_COAD_TCGA-G4-6588-01.png
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exon_skip_330818_COAD_TCGA-G4-6588-01.png
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exon_skip_382354_COAD_TCGA-G4-6588-01.png
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exon_skip_386802_COAD_TCGA-G4-6588-01.png
boxplot
exon_skip_4028_COAD_TCGA-G4-6588-01.png
boxplot
exon_skip_434039_COAD_TCGA-G4-6588-01.png
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exon_skip_434040_COAD_TCGA-G4-6588-01.png
boxplot
exon_skip_5121_COAD_TCGA-G4-6588-01.png
boxplot
exon_skip_5861_COAD_TCGA-G4-6588-01.png
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exon_skip_68768_COAD_TCGA-G4-6588-01.png
boxplot
exon_skip_76742_COAD_TCGA-G4-6588-01.png
boxplot
NASP_46072188_46072263_46072992_46074009_46078840_46078920_TCGA-2Z-A9JE-01Sample: TCGA-2Z-A9JE-01
Cancer type: KIRP
ESID: exon_skip_5861
Skipped exon start: 46072993
Skipped exon end: 46074009
Mutation start: 46073205
Mutation end: 46073206
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: A
AAchange: p.E208fs
exon_skip_135418_KIRP_TCGA-2Z-A9JE-01.png
boxplot
exon_skip_5861_KIRP_TCGA-2Z-A9JE-01.png
boxplot
NASP_46072188_46072263_46072992_46074009_46078840_46078920_TCGA-G3-A3CJ-01Sample: TCGA-G3-A3CJ-01
Cancer type: LIHC
ESID: exon_skip_5861
Skipped exon start: 46072993
Skipped exon end: 46074009
Mutation start: 46073041
Mutation end: 46073041
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.E153fs
exon_skip_101516_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_106378_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_106524_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_109529_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_109778_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_11286_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_11289_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_11349_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_113894_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_113898_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_11611_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_11615_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_11638_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_11641_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_11926_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_11933_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_11937_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_11939_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_124065_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_124066_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_124693_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_126824_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_126833_LIHC_TCGA-G3-A3CJ-01.png
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exon_skip_126836_LIHC_TCGA-G3-A3CJ-01.png
boxplot
exon_skip_1268_LIHC_TCGA-G3-A3CJ-01.png
boxplot
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NASP_46072188_46072263_46072992_46074009_46078840_46078920_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_5861
Skipped exon start: 46072993
Skipped exon end: 46074009
Mutation start: 46073055
Mutation end: 46073055
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.A157fs
NASP_46072188_46072263_46072992_46074009_46078840_46078920_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_5861
Skipped exon start: 46072993
Skipped exon end: 46074009
Mutation start: 46073055
Mutation end: 46073055
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.K159fs
NASP_46072188_46072263_46072992_46074009_46078840_46078920_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_5908
Skipped exon start: 46083135
Skipped exon end: 46083263
Mutation start: 46083213
Mutation end: 46083213
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.G746fs
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NASP_46072188_46072263_46072992_46074009_46078840_46078920_TCGA-BR-4257-01Sample: TCGA-BR-4257-01
Cancer type: STAD
ESID: exon_skip_5861
Skipped exon start: 46072993
Skipped exon end: 46074009
Mutation start: 46073055
Mutation end: 46073055
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.A157fs
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NASP_46072188_46072263_46072992_46074009_46078840_46078920_TCGA-BR-8372-01Sample: TCGA-BR-8372-01
Cancer type: STAD
ESID: exon_skip_5861
Skipped exon start: 46072993
Skipped exon end: 46074009
Mutation start: 46073055
Mutation end: 46073055
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.A157fs
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HEC59_ENDOMETRIUM46067927460680374606798746067987Frame_Shift_DelG-p.M56fs
HEC6_ENDOMETRIUM46072993460740094607305546073055Frame_Shift_DelA-p.K159fs
GP5D_LARGE_INTESTINE46072993460740094607317346073173Frame_Shift_DelA-p.E197fs
CCK81_LARGE_INTESTINE46072993460740094607305446073055Frame_Shift_Ins-Ap.K158fs
LS411N_LARGE_INTESTINE46072993460740094607305446073055Frame_Shift_Ins-Ap.K158fs
EN_ENDOMETRIUM46072993460740094607305446073055Frame_Shift_Ins-Ap.K158fs
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46072993460740094607304446073046In_Frame_DelAAG-p.E156del
BICR18_UPPER_AERODIGESTIVE_TRACT46072993460740094607304446073046In_Frame_DelAAG-p.E156del
MC1010_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46072993460740094607322546073227In_Frame_DelAGG-p.G216del
TYKNU_OVARY46079768460798534607984546079850In_Frame_DelTTTTAA-p.FK529del
ASPC1_PANCREAS46067927460680374606794146067941Missense_MutationGAp.S41N
CAPAN2_PANCREAS46067927460680374606794146067941Missense_MutationGAp.S41N
SNGM_ENDOMETRIUM46072154460722634607218246072182Missense_MutationTGp.L110V
NCIH2882_LUNG46072993460740094607309446073094Missense_MutationGCp.D171H
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46072993460740094607323346073233Missense_MutationCTp.A217V
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46072993460740094607324846073248Missense_MutationCTp.P222L
NCIH1915_LUNG46072993460740094607325146073251Missense_MutationATp.N223I
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46072993460740094607330146073301Missense_MutationGAp.E240K
KYSE270_OESOPHAGUS46072993460740094607332846073328Missense_MutationGCp.D249H
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46072993460740094607335546073355Missense_MutationGAp.G258R
EW3_BONE46072993460740094607342846073428Missense_MutationCGp.P282R
SNU324_PANCREAS46072993460740094607376846073768Missense_MutationGTp.Q395H
HUCCT1_BILIARY_TRACT46072993460740094607381946073819Missense_MutationGTp.E412D
HEC1_ENDOMETRIUM46072993460740094607396246073962Missense_MutationCAp.A460D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46072993460740094607398746073987Missense_MutationACp.E468D
BICR18_UPPER_AERODIGESTIVE_TRACT46072993460740094607398746073987Missense_MutationACp.E468D
EBC1_LUNG46078841460789204607885346078853Missense_MutationCTp.S480L
KYSE220_OESOPHAGUS46078841460789204607885346078853Missense_MutationCTp.S480L
NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE46078841460789204607885346078853Missense_MutationCTp.S480L
HCC2998_LARGE_INTESTINE46078841460789204607887246078872Missense_MutationACp.E486D
RERFLCAD1_LUNG46083135460832634608323546083235Missense_MutationAGp.N753S
SW403_LARGE_INTESTINE46072993460740094607354746073547Nonsense_MutationGTp.E322*

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_5829146049779:46049877:46054322:46054620:46056894:4605694246054322:46054620ENST00000530840.1THCArs2991978chr1:46054486A/G1.86e-04
exon_skip_5861146072188:46072263:46072992:46074009:46078840:4607892046072992:46074009ENST00000402363.3,ENST00000350030.3,ENST00000537798.1,ENST00000453748.1LIHCrs2230657chr1:46073489G/A1.52e-03
exon_skip_5861146072188:46072263:46072992:46074009:46078840:4607892046072992:46074009ENST00000402363.3,ENST00000350030.3,ENST00000537798.1,ENST00000453748.1THCArs2230657chr1:46073489G/A2.16e-06
exon_skip_5865146072188:46072263:46078840:46078920:46079767:4607978946078840:46078920ENST00000437362.2,ENST00000372052.4,ENST00000437901.2,ENST00000525515.1,ENST00000351223.3,ENST00000528238.1BRCArs2230658chr1:46078854A/G3.65e-03
exon_skip_5865146072188:46072263:46078840:46078920:46079767:4607978946078840:46078920ENST00000437362.2,ENST00000372052.4,ENST00000437901.2,ENST00000525515.1,ENST00000351223.3,ENST00000528238.1BRCArs2230659chr1:46078884C/T4.05e-03
exon_skip_5865146072188:46072263:46078840:46078920:46079767:4607978946078840:46078920ENST00000437362.2,ENST00000372052.4,ENST00000437901.2,ENST00000525515.1,ENST00000351223.3,ENST00000528238.1THCArs2230659chr1:46078884C/T2.07e-04
exon_skip_5865146072188:46072263:46078840:46078920:46079767:4607978946078840:46078920ENST00000437362.2,ENST00000372052.4,ENST00000437901.2,ENST00000525515.1,ENST00000351223.3,ENST00000528238.1THCArs2230658chr1:46078854A/G2.15e-04
exon_skip_5865146072188:46072263:46078840:46078920:46079767:4607978946078840:46078920ENST00000437362.2,ENST00000372052.4,ENST00000437901.2,ENST00000525515.1,ENST00000351223.3,ENST00000528238.1THCArs2230658chr1:46078854A/G3.17e-03
exon_skip_5846146056894:46056942:46078840:46078920:46079767:4607978946078840:46078920ENST00000527359.1BRCArs2230658chr1:46078854A/G3.65e-03
exon_skip_5846146056894:46056942:46078840:46078920:46079767:4607978946078840:46078920ENST00000527359.1BRCArs2230659chr1:46078884C/T4.05e-03
exon_skip_5846146056894:46056942:46078840:46078920:46079767:4607978946078840:46078920ENST00000527359.1THCArs2230659chr1:46078884C/T2.07e-04
exon_skip_5846146056894:46056942:46078840:46078920:46079767:4607978946078840:46078920ENST00000527359.1THCArs2230658chr1:46078854A/G2.15e-04
exon_skip_5846146056894:46056942:46078840:46078920:46079767:4607978946078840:46078920ENST00000527359.1THCArs2230658chr1:46078854A/G3.17e-03

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


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


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RelatedDrugs for NASP

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 NASP

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