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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 SLC9A8

check button Gene summary
Gene informationGene symbol

SLC9A8

Gene ID

23315

Gene namesolute carrier family 9 member A8
SynonymsNHE-8|NHE8
Cytomap

20q13.13

Type of geneprotein-coding
Descriptionsodium/hydrogen exchanger 8Na(+)/H(+) exchanger 8solute carrier family 9 (sodium/hydrogen exchanger)solute carrier family 9 (sodium/hydrogen exchanger), member 8solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8
Modification date20180523
UniProtAcc

Q9Y2E8

ContextPubMed: SLC9A8 [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 SLC9A8 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 SLC9A8

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 SLC9A8

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3529232048431544:48431726:48439597:48439678:48456077:4845613648439597:48439678ENSG00000197818.7ENST00000361573.2,ENST00000541138.1,ENST00000417961.1,ENST00000539601.1
exon_skip_3529242048439597:48439678:48456077:48456136:48461572:4846165648456077:48456136ENSG00000197818.7ENST00000361573.2,ENST00000541138.1,ENST00000417961.1
exon_skip_3529272048456077:48456136:48461572:48461656:48466115:4846621748461572:48461656ENSG00000197818.7ENST00000361573.2,ENST00000541138.1,ENST00000417961.1
exon_skip_3529292048456077:48456136:48466115:48466217:48471974:4847211848466115:48466217ENSG00000197818.7ENST00000539601.1
exon_skip_3529312048461572:48461656:48466115:48466217:48471974:4847211848466115:48466217ENSG00000197818.7ENST00000541138.1
exon_skip_3529332048466115:48466217:48467298:48467381:48471974:4847211848467298:48467381ENSG00000197818.7ENST00000417961.1
exon_skip_3529342048466115:48466217:48467346:48467381:48471974:4847211848467346:48467381ENSG00000197818.7ENST00000361573.2
exon_skip_3529422048471974:48472118:48481264:48481381:48491241:4849135848481264:48481381ENSG00000197818.7ENST00000541138.1
exon_skip_3529432048481275:48481381:48491241:48491358:48494517:4849460048491241:48491358ENSG00000197818.7ENST00000361573.2,ENST00000541138.1,ENST00000417961.1,ENST00000539601.1
exon_skip_3529502048500382:48500603:48503288:48503435:48504365:4850504048503288:48503435ENSG00000197818.7ENST00000361573.2,ENST00000541138.1,ENST00000417961.1,ENST00000539601.1

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

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Exon skipping events with PSIs in GTEx for SLC9A8

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3529232048431544:48431726:48439597:48439678:48456077:4845613648439597:48439678ENSG00000197818.7ENST00000417961.1,ENST00000361573.2,ENST00000541138.1,ENST00000539601.1
exon_skip_3529242048439597:48439678:48456077:48456136:48461572:4846165648456077:48456136ENSG00000197818.7ENST00000417961.1,ENST00000361573.2,ENST00000541138.1
exon_skip_3529272048456077:48456136:48461572:48461656:48466115:4846621748461572:48461656ENSG00000197818.7ENST00000417961.1,ENST00000361573.2,ENST00000541138.1
exon_skip_3529292048456077:48456136:48466115:48466217:48471974:4847211848466115:48466217ENSG00000197818.7ENST00000539601.1
exon_skip_3529312048461572:48461656:48466115:48466217:48471974:4847211848466115:48466217ENSG00000197818.7ENST00000541138.1
exon_skip_3529332048466115:48466217:48467298:48467381:48471974:4847211848467298:48467381ENSG00000197818.7ENST00000417961.1
exon_skip_3529342048466115:48466217:48467346:48467381:48471974:4847211848467346:48467381ENSG00000197818.7ENST00000361573.2
exon_skip_3529422048471974:48472118:48481264:48481381:48491241:4849135848481264:48481381ENSG00000197818.7ENST00000541138.1
exon_skip_3529432048481275:48481381:48491241:48491358:48494517:4849460048491241:48491358ENSG00000197818.7ENST00000417961.1,ENST00000361573.2,ENST00000541138.1,ENST00000539601.1
exon_skip_3529502048500382:48500603:48503288:48503435:48504365:4850504048503288:48503435ENSG00000197818.7ENST00000417961.1,ENST00000361573.2,ENST00000541138.1,ENST00000539601.1

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 SLC9A8

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
ENST000003615734845607748456136Frame-shift
ENST000003615734846734648467381Frame-shift
ENST000003615734843959748439678In-frame
ENST000003615734846157248461656In-frame
ENST000003615734849124148491358In-frame
ENST000003615734850328848503435In-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
ENST000003615734845607748456136Frame-shift
ENST000003615734846734648467381Frame-shift
ENST000003615734843959748439678In-frame
ENST000003615734846157248461656In-frame
ENST000003615734849124148491358In-frame
ENST000003615734850328848503435In-frame

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Infer the effects of exon skipping event on protein functional features for SLC9A8

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
ENST00000361573611158148439597484396782513316996
ENST0000036157361115814846157248461656391474116144
ENST000003615736111581484912414849135810011117319358
ENST000003615736111581485032884850343515341680497546

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
ENST00000361573611158148439597484396782513316996
ENST0000036157361115814846157248461656391474116144
ENST000003615736111581484912414849135810011117319358
ENST000003615736111581485032884850343515341680497546

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
Q9Y2E869961581ChainID=PRO_0000052365;Note=Sodium/hydrogen exchanger 8
Q9Y2E869966080TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y2E8699684104TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y2E81161441581ChainID=PRO_0000052365;Note=Sodium/hydrogen exchanger 8
Q9Y2E8116144123143TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y2E83193581581ChainID=PRO_0000052365;Note=Sodium/hydrogen exchanger 8
Q9Y2E8319358311331TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y2E8319358354374TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y2E84975461581ChainID=PRO_0000052365;Note=Sodium/hydrogen exchanger 8
Q9Y2E8497546510510Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8R4D1


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
Q9Y2E869961581ChainID=PRO_0000052365;Note=Sodium/hydrogen exchanger 8
Q9Y2E869966080TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y2E8699684104TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y2E81161441581ChainID=PRO_0000052365;Note=Sodium/hydrogen exchanger 8
Q9Y2E8116144123143TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y2E83193581581ChainID=PRO_0000052365;Note=Sodium/hydrogen exchanger 8
Q9Y2E8319358311331TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y2E8319358354374TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9Y2E84975461581ChainID=PRO_0000052365;Note=Sodium/hydrogen exchanger 8
Q9Y2E8497546510510Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8R4D1


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SNVs in the skipped exons for SLC9A8

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.
SLC9A8_ESCA_exon_skip_352933_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
STADTCGA-VQ-A8PE-01exon_skip_352923
48439598484396784843964448439644Frame_Shift_DelT-p.H85fs
LIHCTCGA-DD-A3A0-01exon_skip_352924
48456078484561364845611648456116Frame_Shift_DelA-p.K111fs
LIHCTCGA-G3-A3CJ-01exon_skip_352927
48461573484616564846160048461600Frame_Shift_DelT-p.F127fs
LIHCTCGA-DD-A1EG-01exon_skip_352929
exon_skip_352931
48466116484662174846618148466181Frame_Shift_DelT-p.A166fs
ESCATCGA-L5-A4OI-01exon_skip_352933
48467299484673814846730148467301Frame_Shift_DelT-p.F182fs
PAADTCGA-FB-A7DR-01exon_skip_352933
48467299484673814846730148467301Frame_Shift_DelT-p.G179fs
SARCTCGA-DX-A7EF-01exon_skip_352933
48467299484673814846730148467301Frame_Shift_DelT-p.F182fs
SARCTCGA-IS-A3KA-01exon_skip_352933
48467299484673814846730148467301Frame_Shift_DelT-p.F182fs
THYMTCGA-ZB-A966-01exon_skip_352933
48467299484673814846730148467301Frame_Shift_DelT-p.G179fs
LIHCTCGA-G3-A3CJ-01exon_skip_352933
48467299484673814846736248467362Frame_Shift_DelA-p.K200fs
LIHCTCGA-G3-A3CJ-01exon_skip_352934
48467347484673814846736248467362Frame_Shift_DelA-p.K200fs
LIHCTCGA-DD-A1EG-01exon_skip_352942
48481265484813814848133448481334Frame_Shift_DelT-p.I320fs
LIHCTCGA-DD-A39Y-01exon_skip_352942
48481265484813814848133448481334Frame_Shift_DelT-p.I320fs
ESCATCGA-L5-A4OI-01exon_skip_352933
48467299484673814846730048467301Frame_Shift_Ins-Tp.F183fs
ESCATCGA-LN-A4A3-01exon_skip_352933
48467299484673814846730048467301Frame_Shift_Ins-Tp.F183fs
BLCATCGA-DK-A1AC-01exon_skip_352929
exon_skip_352931
48466116484662174846621548466215Nonsense_MutationCTp.Q178*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
SLC9A8_48466115_48466217_48467298_48467381_48471974_48472118_TCGA-L5-A4OI-01Sample: TCGA-L5-A4OI-01
Cancer type: ESCA
ESID: exon_skip_352933
Skipped exon start: 48467299
Skipped exon end: 48467381
Mutation start: 48467301
Mutation end: 48467301
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.F182fs
SLC9A8_48466115_48466217_48467298_48467381_48471974_48472118_TCGA-L5-A4OI-01Sample: TCGA-L5-A4OI-01
Cancer type: ESCA
ESID: exon_skip_352933
Skipped exon start: 48467299
Skipped exon end: 48467381
Mutation start: 48467300
Mutation end: 48467301
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: T
AAchange: p.F183fs
exon_skip_112640_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_112965_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_122690_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_129706_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_135696_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_135704_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_135820_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_147024_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_149455_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_307491_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_308211_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_308974_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_309972_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_311841_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_328488_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_349475_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_352933_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_374468_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_374469_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_386802_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_423582_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_428975_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_434375_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_439047_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_439048_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_441654_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_443160_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_443161_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_457940_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_461524_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_470470_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_470694_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_474097_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_477308_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_487634_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_495456_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_502537_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_506535_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_55351_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_77217_ESCA_TCGA-L5-A4OI-01.png
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exon_skip_91288_ESCA_TCGA-L5-A4OI-01.png
boxplot
SLC9A8_48466115_48466217_48467298_48467381_48471974_48472118_TCGA-LN-A4A3-01Sample: TCGA-LN-A4A3-01
Cancer type: ESCA
ESID: exon_skip_352933
Skipped exon start: 48467299
Skipped exon end: 48467381
Mutation start: 48467300
Mutation end: 48467301
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: T
AAchange: p.F183fs
exon_skip_352933_ESCA_TCGA-LN-A4A3-01.png
boxplot
exon_skip_99411_ESCA_TCGA-LN-A4A3-01.png
boxplot
SLC9A8_48466115_48466217_48467298_48467381_48471974_48472118_TCGA-FB-A7DR-01Sample: TCGA-FB-A7DR-01
Cancer type: PAAD
ESID: exon_skip_352933
Skipped exon start: 48467299
Skipped exon end: 48467381
Mutation start: 48467301
Mutation end: 48467301
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.G179fs
exon_skip_352933_PAAD_TCGA-FB-A7DR-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
CORL311_LUNG48439598484396784843961948439619Missense_MutationAGp.H77R
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE48439598484396784843964148439641Missense_MutationATp.L84F
SNU1040_LARGE_INTESTINE48439598484396784843964648439646Missense_MutationTCp.F86S
A375_SKIN48456078484561364845611548456115Missense_MutationTGp.F109L
SW13_ADRENAL_CORTEX48466116484662174846617748466177Missense_MutationCTp.S165F
SCC15_UPPER_AERODIGESTIVE_TRACT48491242484913584849135548491355Missense_MutationTCp.C358R
JHH5_LIVER48503289485034354850331048503310Missense_MutationCTp.H505Y
NB13_AUTONOMIC_GANGLIA48503289485034354850335648503356Missense_MutationGAp.R520K
HCC1569_BREAST48503289485034354850335948503359Missense_MutationGAp.R521Q
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE48503289485034354850335948503359Missense_MutationGAp.R521Q
HC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE48439598484396784843963048439630Nonsense_MutationCTp.R81*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC9A8

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3529432048481275:48481381:48491241:48491358:48494517:4849460048491241:48491358ENST00000361573.2,ENST00000541138.1,ENST00000417961.1,ENST00000539601.1STADrs542234chr20:48491258T/G3.84e-07

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC9A8


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC9A8


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RelatedDrugs for SLC9A8

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 SLC9A8

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
SLC9A8C0497327Dementia1CTD_human