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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 USP48

check button Gene summary
Gene informationGene symbol

USP48

Gene ID

84196

Gene nameubiquitin specific peptidase 48
SynonymsRAP1GA1|USP31
Cytomap

1p36.12

Type of geneprotein-coding
Descriptionubiquitin carboxyl-terminal hydrolase 48deubiquitinating enzyme 48ubiquitin specific protease 31ubiquitin thioesterase 48ubiquitin thiolesterase 48ubiquitin-specific-processing protease 48
Modification date20180522
UniProtAcc

Q86UV5

ContextPubMed: USP48 [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 USP48 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 USP48

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 USP48

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_22906122007300:22007327:22013683:22013732:22016466:2201659222013683:22013732ENSG00000090686.11ENST00000529637.1,ENST00000400301.1,ENST00000308271.9,ENST00000374732.3
exon_skip_22908122016466:22016592:22021558:22021714:22027990:2202809522021558:22021714ENSG00000090686.11ENST00000529637.1,ENST00000464577.1,ENST00000308271.9
exon_skip_22910122021558:22021714:22027990:22028095:22030004:2203011122027990:22028095ENSG00000090686.11ENST00000529637.1,ENST00000308271.9
exon_skip_22911122021558:22021714:22027990:22028095:22030754:2203088022027990:22028095ENSG00000090686.11ENST00000464577.1
exon_skip_22914122027990:22028095:22030004:22030111:22030754:2203088022030004:22030111ENSG00000090686.11ENST00000529637.1,ENST00000400301.1,ENST00000308271.9,ENST00000374732.3
exon_skip_22917122032618:22032680:22032959:22033082:22033236:2203336122032959:22033082ENSG00000090686.11ENST00000529637.1,ENST00000400301.1,ENST00000308271.9,ENST00000374732.3
exon_skip_22921122032959:22033082:22033236:22033361:22041881:2204195022033236:22033361ENSG00000090686.11ENST00000400301.1,ENST00000308271.9,ENST00000374732.3
exon_skip_22922122032959:22033082:22033236:22033400:22041881:2204195022033236:22033400ENSG00000090686.11ENST00000529637.1
exon_skip_22923122033236:22033361:22041881:22041950:22047528:2204763922041881:22041950ENSG00000090686.11ENST00000400301.1,ENST00000308271.9,ENST00000374732.3
exon_skip_22925122047528:22047656:22048142:22048257:22050390:2205058822048142:22048257ENSG00000090686.11ENST00000374732.3
exon_skip_22930122047528:22047659:22048142:22048257:22050390:2205058822048142:22048257ENSG00000090686.11ENST00000487880.2,ENST00000529637.1,ENST00000400301.1,ENST00000308271.9
exon_skip_22940122048142:22048257:22050390:22050588:22055062:2205521222050390:22050588ENSG00000090686.11ENST00000529637.1,ENST00000400301.1,ENST00000308271.9
exon_skip_22944122055104:22055212:22056196:22056322:22062938:2206311822056196:22056322ENSG00000090686.11ENST00000529637.1
exon_skip_22945122055104:22055212:22056196:22056325:22062938:2206311822056196:22056325ENSG00000090686.11ENST00000421625.2,ENST00000400301.1,ENST00000308271.9
exon_skip_22947122056196:22056322:22062938:22063118:22073559:2207364222062938:22063118ENSG00000090686.11ENST00000529637.1
exon_skip_22948122056196:22056325:22062922:22063118:22073559:2207364222062922:22063118ENSG00000090686.11ENST00000374730.2
exon_skip_22949122056196:22056325:22062938:22063118:22073559:2207364222062938:22063118ENSG00000090686.11ENST00000421625.2,ENST00000400301.1,ENST00000308271.9
exon_skip_22950122062938:22063118:22073559:22073642:22074630:2207468422073559:22073642ENSG00000090686.11ENST00000529637.1,ENST00000421625.2,ENST00000400301.1,ENST00000308271.9,ENST00000374730.2
exon_skip_22955122073559:22073642:22074630:22074764:22077999:2207810822074630:22074764ENSG00000090686.11ENST00000529637.1,ENST00000421625.2,ENST00000400301.1,ENST00000308271.9
exon_skip_22960122074630:22074764:22077999:22078108:22079019:2207914422077999:22078108ENSG00000090686.11ENST00000529637.1,ENST00000421625.2,ENST00000400301.1,ENST00000308271.9
exon_skip_22962122083038:22083195:22084155:22084276:22109316:2210938422084155:22084276ENSG00000090686.11ENST00000532737.1,ENST00000529637.1,ENST00000421625.2,ENST00000308271.9

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

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Exon skipping events with PSIs in GTEx for USP48

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_22906122007300:22007327:22013683:22013732:22016466:2201659222013683:22013732ENSG00000090686.11ENST00000400301.1,ENST00000308271.9,ENST00000374732.3,ENST00000529637.1
exon_skip_22908122016466:22016592:22021558:22021714:22027990:2202809522021558:22021714ENSG00000090686.11ENST00000308271.9,ENST00000529637.1,ENST00000464577.1
exon_skip_22910122021558:22021714:22027990:22028095:22030004:2203011122027990:22028095ENSG00000090686.11ENST00000308271.9,ENST00000529637.1
exon_skip_22911122021558:22021714:22027990:22028095:22030754:2203088022027990:22028095ENSG00000090686.11ENST00000464577.1
exon_skip_22914122027990:22028095:22030004:22030111:22030754:2203088022030004:22030111ENSG00000090686.11ENST00000400301.1,ENST00000308271.9,ENST00000374732.3,ENST00000529637.1
exon_skip_22917122032618:22032680:22032959:22033082:22033236:2203336122032959:22033082ENSG00000090686.11ENST00000400301.1,ENST00000308271.9,ENST00000374732.3,ENST00000529637.1
exon_skip_22921122032959:22033082:22033236:22033361:22041881:2204195022033236:22033361ENSG00000090686.11ENST00000400301.1,ENST00000308271.9,ENST00000374732.3
exon_skip_22922122032959:22033082:22033236:22033400:22041881:2204195022033236:22033400ENSG00000090686.11ENST00000529637.1
exon_skip_22923122033236:22033361:22041881:22041950:22047528:2204763922041881:22041950ENSG00000090686.11ENST00000400301.1,ENST00000308271.9,ENST00000374732.3
exon_skip_22925122047528:22047656:22048142:22048257:22050390:2205058822048142:22048257ENSG00000090686.11ENST00000374732.3
exon_skip_22930122047528:22047659:22048142:22048257:22050390:2205058822048142:22048257ENSG00000090686.11ENST00000400301.1,ENST00000308271.9,ENST00000529637.1,ENST00000487880.2
exon_skip_22940122048142:22048257:22050390:22050588:22055062:2205521222050390:22050588ENSG00000090686.11ENST00000400301.1,ENST00000308271.9,ENST00000529637.1
exon_skip_22944122055104:22055212:22056196:22056322:22062938:2206311822056196:22056322ENSG00000090686.11ENST00000529637.1
exon_skip_22945122055104:22055212:22056196:22056325:22062938:2206311822056196:22056325ENSG00000090686.11ENST00000400301.1,ENST00000308271.9,ENST00000421625.2
exon_skip_22947122056196:22056322:22062938:22063118:22073559:2207364222062938:22063118ENSG00000090686.11ENST00000529637.1
exon_skip_22948122056196:22056325:22062922:22063118:22073559:2207364222062922:22063118ENSG00000090686.11ENST00000374730.2
exon_skip_22949122056196:22056325:22062938:22063118:22073559:2207364222062938:22063118ENSG00000090686.11ENST00000400301.1,ENST00000308271.9,ENST00000421625.2
exon_skip_22950122062938:22063118:22073559:22073642:22074630:2207468422073559:22073642ENSG00000090686.11ENST00000400301.1,ENST00000308271.9,ENST00000529637.1,ENST00000421625.2,ENST00000374730.2
exon_skip_22955122073559:22073642:22074630:22074764:22077999:2207810822074630:22074764ENSG00000090686.11ENST00000400301.1,ENST00000308271.9,ENST00000529637.1,ENST00000421625.2
exon_skip_22960122074630:22074764:22077999:22078108:22079019:2207914422077999:22078108ENSG00000090686.11ENST00000400301.1,ENST00000308271.9,ENST00000529637.1,ENST00000421625.2
exon_skip_22962122083038:22083195:22084155:22084276:22109316:2210938422084155:22084276ENSG00000090686.11ENST00000308271.9,ENST00000529637.1,ENST00000421625.2,ENST00000532737.1

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 USP48

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
ENST000003082712201368322013732Frame-shift
ENST000003082712203000422030111Frame-shift
ENST000003082712203323622033361Frame-shift
ENST000003082712204814222048257Frame-shift
ENST000003082712207355922073642Frame-shift
ENST000003082712207463022074764Frame-shift
ENST000003082712207799922078108Frame-shift
ENST000003082712208415522084276Frame-shift
ENST000003082712202155822021714In-frame
ENST000003082712202799022028095In-frame
ENST000003082712203295922033082In-frame
ENST000003082712204188122041950In-frame
ENST000003082712205039022050588In-frame
ENST000003082712205619622056325In-frame
ENST000003082712206293822063118In-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
ENST000003082712201368322013732Frame-shift
ENST000003082712203000422030111Frame-shift
ENST000003082712203323622033361Frame-shift
ENST000003082712204814222048257Frame-shift
ENST000003082712207355922073642Frame-shift
ENST000003082712207463022074764Frame-shift
ENST000003082712207799922078108Frame-shift
ENST000003082712208415522084276Frame-shift
ENST000003082712202155822021714In-frame
ENST000003082712202799022028095In-frame
ENST000003082712203295922033082In-frame
ENST000003082712204188122041950In-frame
ENST000003082712205039022050588In-frame
ENST000003082712205619622056325In-frame
ENST000003082712206293822063118In-frame

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Infer the effects of exon skipping event on protein functional features for USP48

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
ENST0000030827146121035220629382206311816411820330390
ENST0000030827146121035220561962205632518211949390433
ENST0000030827146121035220503902205058821002297483549
ENST0000030827146121035220418812204195025442612631654
ENST0000030827146121035220329592203308227382860696737
ENST0000030827146121035220279902202809532723376874909
ENST0000030827146121035220215582202171433773532909961

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
ENST0000030827146121035220629382206311816411820330390
ENST0000030827146121035220561962205632518211949390433
ENST0000030827146121035220503902205058821002297483549
ENST0000030827146121035220418812204195025442612631654
ENST0000030827146121035220329592203308227382860696737
ENST0000030827146121035220279902202809532723376874909
ENST0000030827146121035220215582202171433773532909961

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 USP48

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.
USP48_LIHC_exon_skip_22908_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-A39Y-01exon_skip_22908
22021559220217142202157422021574Frame_Shift_DelT-p.K956fs
LIHCTCGA-G3-A3CJ-01exon_skip_22908
22021559220217142202160722021607Frame_Shift_DelT-p.K945fs
LIHCTCGA-DD-A3A0-01exon_skip_22908
22021559220217142202162222021622Frame_Shift_DelT-p.K940fs
LIHCTCGA-UB-A7ME-01exon_skip_22908
22021559220217142202168922021689Frame_Shift_DelT-p.K918fs
LIHCTCGA-DD-A39Y-01exon_skip_22922
22033237220334002203337022033370Frame_Shift_DelA-p.L664fs
LIHCTCGA-DD-A3A0-01exon_skip_22922
22033237220334002203337022033370Frame_Shift_DelA-p.L664fs
LIHCTCGA-G3-A3CJ-01exon_skip_22922
22033237220334002203337022033370Frame_Shift_DelA-p.L664fs
ESCATCGA-L5-A4OI-01exon_skip_22922
22033237220334002203338622033387Frame_Shift_DelAA-p.S659fs
LIHCTCGA-G3-A3CJ-01exon_skip_22944
22056197220563222205629722056297Frame_Shift_DelT-p.K400fs
LIHCTCGA-G3-A3CJ-01exon_skip_22944
22056197220563222205629722056297Frame_Shift_DelT-p.P401fs
LIHCTCGA-G3-A3CJ-01exon_skip_22945
22056197220563252205629722056297Frame_Shift_DelT-p.K400fs
LIHCTCGA-G3-A3CJ-01exon_skip_22945
22056197220563252205629722056297Frame_Shift_DelT-p.P401fs
UCECTCGA-AX-A0J0-01exon_skip_22955
22074631220747642207470722074708Frame_Shift_DelTC-p.N278fs
LIHCTCGA-DD-A39Y-01exon_skip_22955
22074631220747642207473122074731Frame_Shift_DelA-p.C270fs
ESCATCGA-LN-A49N-01exon_skip_22922
22033237220334002203338522033386Frame_Shift_Ins-Ap.S659fs
LUADTCGA-50-5935-01exon_skip_22921
22033237220333612203329622033296Nonsense_MutationGAp.Q677*
LUADTCGA-50-5935-01exon_skip_22922
22033237220334002203329622033296Nonsense_MutationGAp.Q677*
UCECTCGA-AP-A056-01exon_skip_22923
22041882220419502204192722041927Nonsense_MutationCAp.E640*
BLCATCGA-CF-A9FF-01exon_skip_22944
22056197220563222205620622056206Nonsense_MutationGAp.Q431*
BLCATCGA-CF-A9FF-01exon_skip_22945
22056197220563252205620622056206Nonsense_MutationGAp.Q431*
HNSCTCGA-CQ-7071-01exon_skip_22944
22056197220563222205620622056206Nonsense_MutationGAp.Q431*
HNSCTCGA-CQ-7071-01exon_skip_22945
22056197220563252205620622056206Nonsense_MutationGAp.Q431*
STADTCGA-CG-5720-01exon_skip_22950
22073560220736422207359822073598Nonsense_MutationGCp.S318*
SARCTCGA-DX-A3LS-01exon_skip_22950
22073560220736422207362622073626Nonsense_MutationTAp.K309*
UCECTCGA-BS-A0UA-0122078000220781082207800422078004Nonsense_MutationATp.L257*
UCECTCGA-B5-A0JY-0122078000220781082207808922078089Nonsense_MutationCAp.E229*
THCATCGA-EM-A22P-01exon_skip_22917
22032960220330822203308322033083Splice_SiteCG.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
USP48_22016466_22016592_22021558_22021714_22027990_22028095_TCGA-UB-A7ME-01Sample: TCGA-UB-A7ME-01
Cancer type: LIHC
ESID: exon_skip_22908
Skipped exon start: 22021559
Skipped exon end: 22021714
Mutation start: 22021689
Mutation end: 22021689
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K918fs
exon_skip_22908_LIHC_TCGA-UB-A7ME-01.png
boxplot
USP48_22016466_22016592_22021558_22021714_22027990_22028095_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_22908
Skipped exon start: 22021559
Skipped exon end: 22021714
Mutation start: 22021574
Mutation end: 22021574
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K956fs
USP48_22016466_22016592_22021558_22021714_22027990_22028095_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_22922
Skipped exon start: 22033237
Skipped exon end: 22033400
Mutation start: 22033370
Mutation end: 22033370
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.L664fs
USP48_22016466_22016592_22021558_22021714_22027990_22028095_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_22955
Skipped exon start: 22074631
Skipped exon end: 22074764
Mutation start: 22074731
Mutation end: 22074731
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.C270fs
exon_skip_105023_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_101824_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_106032_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_106378_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_106523_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_106524_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_109527_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_109529_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_110000_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_11029_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_111893_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_111894_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_112042_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_112647_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_114045_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_114046_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_114565_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_11916_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_1234_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_1237_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_124639_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_124693_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_124695_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_130535_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_13071_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_131505_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_133556_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_135211_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_135545_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_135553_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_135763_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_137564_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_138947_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_139222_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_141370_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_141945_LIHC_TCGA-DD-A39Y-01.png
boxplot
exon_skip_143515_LIHC_TCGA-DD-A39Y-01.png
boxplot
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exon_skip_96282_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_96298_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_96557_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_96886_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_97738_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_97739_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_9807_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_98550_LIHC_TCGA-DD-A39Y-01.png
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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
AN3CA_ENDOMETRIUM22078000220781082207807622078076Frame_Shift_DelA-p.L233fs
KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE22056197220563252205621822056232In_Frame_DelTGGGCTTTTCTTGAG-p.TQEKP422del
KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE22056197220563222205621822056232In_Frame_DelTGGGCTTTTCTTGAG-p.TQEKP422del
HEC265_ENDOMETRIUM22013684220137322201368822013688Missense_MutationCTp.M1018I
KYSE450_OESOPHAGUS22021559220217142202162222021622Missense_MutationTAp.K940N
JHUEM7_ENDOMETRIUM22021559220217142202168822021688Missense_MutationCAp.K918N
OVK18_OVARY22027991220280952202808222028082Missense_MutationGAp.S879L
HO1U1_UPPER_AERODIGESTIVE_TRACT22032960220330822203306122033061Missense_MutationCGp.E704Q
LIM1215_LARGE_INTESTINE22033237220334002203324422033244Missense_MutationTCp.Q694R
LIM1215_LARGE_INTESTINE22033237220333612203324422033244Missense_MutationTCp.Q694R
HEC151_ENDOMETRIUM22033237220334002203324822033248Missense_MutationAGp.S693P
HEC151_ENDOMETRIUM22033237220333612203324822033248Missense_MutationAGp.S693P
COLO699_LUNG22033237220334002203330122033301Missense_MutationAGp.L675P
COLO699_LUNG22033237220333612203330122033301Missense_MutationAGp.L675P
DOTC24510_CERVIX22041882220419502204192422041924Missense_MutationCGp.E641Q
HEC108_ENDOMETRIUM22050391220505882205039422050394Missense_MutationTCp.T549A
KYSE510_OESOPHAGUS22050391220505882205042522050425Missense_MutationGCp.F538L
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE22050391220505882205043522050435Missense_MutationGAp.A535V
HEC108_ENDOMETRIUM22050391220505882205058322050583Missense_MutationAGp.Y486H
NCIH2452_PLEURA22056197220563252205622322056223Missense_MutationTAp.K425M
NCIH2452_PLEURA22056197220563222205622322056223Missense_MutationTAp.K425M
SH10TC_STOMACH22056197220563252205625422056254Missense_MutationTCp.M415V
SH10TC_STOMACH22056197220563222205625422056254Missense_MutationTCp.M415V
KU1919_URINARY_TRACT22056197220563252205625422056254Missense_MutationTCp.M415V
KU1919_URINARY_TRACT22056197220563222205625422056254Missense_MutationTCp.M415V
CORL303_LUNG22056197220563252205630222056302Missense_MutationGTp.R399S
CORL303_LUNG22056197220563222205630222056302Missense_MutationGTp.R399S
NCIH1155_LUNG22062939220631182206304422063044Missense_MutationCTp.A356T
NCIH1155_LUNG22062923220631182206304422063044Missense_MutationCTp.A356T
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE22062939220631182206309122063091Missense_MutationGAp.A340V
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE22062923220631182206309122063091Missense_MutationGAp.A340V
LN18_CENTRAL_NERVOUS_SYSTEM22078000220781082207810022078100Missense_MutationTCp.Q225R
HCT15_LARGE_INTESTINE22084156220842762208423622084236Missense_MutationCAp.G59C
C99_LARGE_INTESTINE22084156220842762208424622084246Missense_MutationCAp.L55F

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for USP48

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 USP48


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USP48


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RelatedDrugs for USP48

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 USP48

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
USP48C0236733Amphetamine-Related Disorders1CTD_human