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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 SH3TC1

check button Gene summary
Gene informationGene symbol

SH3TC1

Gene ID

54436

Gene nameSH3 domain and tetratricopeptide repeats 1
Synonyms-
Cytomap

4p16.1

Type of geneprotein-coding
DescriptionSH3 domain and tetratricopeptide repeat-containing protein 1SH3 domain and tetratricopeptide repeats-containing protein 1
Modification date20180519
UniProtAcc

Q8TE82

ContextPubMed: SH3TC1 [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 SH3TC1 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 SH3TC1

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 SH3TC1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_42253448201097:8201132:8206509:8206780:8206893:82069908206509:8206780ENSG00000125089.12ENST00000457650.2
exon_skip_42253548201097:8201132:8206893:8207093:8211391:82115498206893:8207093ENSG00000125089.12ENST00000539824.1,ENST00000515682.1,ENST00000506360.1
exon_skip_42253648201097:8201132:8206893:8207093:8211474:82115498206893:8207093ENSG00000125089.12ENST00000245105.3
exon_skip_42253748206893:8207093:8211391:8211549:8214427:82144638211391:8211549ENSG00000125089.12ENST00000539824.1,ENST00000515682.1,ENST00000506360.1
exon_skip_42253848206893:8207093:8211474:8211549:8214427:82144638211474:8211549ENSG00000125089.12ENST00000510763.1,ENST00000245105.3,ENST00000503284.1,ENST00000457650.2
exon_skip_42253948216289:8216307:8216898:8216969:8217837:82179018216898:8216969ENSG00000125089.12ENST00000507891.1
exon_skip_42254348217929:8217984:8218683:8218894:8219997:82200748218683:8218894ENSG00000125089.12ENST00000508641.1,ENST00000539824.1,ENST00000515682.1,ENST00000507891.1,ENST00000245105.3
exon_skip_42254848226907:8226943:8228706:8230371:8233702:82338838228706:8230371ENSG00000125089.12ENST00000502669.1,ENST00000539824.1,ENST00000515682.1,ENST00000245105.3,ENST00000506360.1
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENSG00000125089.12ENST00000502350.1,ENST00000506360.1
exon_skip_42255248233707:8233883:8234433:8234792:8235089:82352408234433:8234792ENSG00000125089.12ENST00000511002.1
exon_skip_42255448233702:8233883:8235018:8235240:8237159:82372828235018:8235240ENSG00000125089.12ENST00000513495.1
exon_skip_42255548233702:8233883:8235089:8235240:8237159:82372828235089:8235240ENSG00000125089.12ENST00000502669.1,ENST00000539824.1,ENST00000515682.1,ENST00000508183.1,ENST00000502559.1,ENST00000245105.3
exon_skip_42255748237187:8237282:8238004:8238155:8239200:82392468238004:8238155ENSG00000125089.12ENST00000511002.1,ENST00000539824.1,ENST00000515682.1,ENST00000245105.3,ENST00000502350.1

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

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Exon skipping events with PSIs in GTEx for SH3TC1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_42253448201097:8201132:8206509:8206780:8206893:82069908206509:8206780ENSG00000125089.12ENST00000457650.2
exon_skip_42253548201097:8201132:8206893:8207093:8211391:82115498206893:8207093ENSG00000125089.12ENST00000506360.1,ENST00000515682.1,ENST00000539824.1
exon_skip_42253648201097:8201132:8206893:8207093:8211474:82115498206893:8207093ENSG00000125089.12ENST00000245105.3
exon_skip_42253748206893:8207093:8211391:8211549:8214427:82144638211391:8211549ENSG00000125089.12ENST00000506360.1,ENST00000515682.1,ENST00000539824.1
exon_skip_42253848206893:8207093:8211474:8211549:8214427:82144638211474:8211549ENSG00000125089.12ENST00000510763.1,ENST00000245105.3,ENST00000457650.2,ENST00000503284.1
exon_skip_42253948216289:8216307:8216898:8216969:8217837:82179018216898:8216969ENSG00000125089.12ENST00000507891.1
exon_skip_42254348217929:8217984:8218683:8218894:8219997:82200748218683:8218894ENSG00000125089.12ENST00000245105.3,ENST00000515682.1,ENST00000539824.1,ENST00000507891.1,ENST00000508641.1
exon_skip_42254848226907:8226943:8228706:8230371:8233702:82338838228706:8230371ENSG00000125089.12ENST00000506360.1,ENST00000502669.1,ENST00000245105.3,ENST00000515682.1,ENST00000539824.1
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENSG00000125089.12ENST00000506360.1,ENST00000502350.1
exon_skip_42255248233707:8233883:8234433:8234792:8235089:82352408234433:8234792ENSG00000125089.12ENST00000511002.1
exon_skip_42255448233702:8233883:8235018:8235240:8237159:82372828235018:8235240ENSG00000125089.12ENST00000513495.1
exon_skip_42255548233702:8233883:8235089:8235240:8237159:82372828235089:8235240ENSG00000125089.12ENST00000502669.1,ENST00000245105.3,ENST00000515682.1,ENST00000539824.1,ENST00000508183.1,ENST00000502559.1
exon_skip_42255748237187:8237282:8238004:8238155:8239200:82392468238004:8238155ENSG00000125089.12ENST00000245105.3,ENST00000515682.1,ENST00000539824.1,ENST00000511002.1,ENST00000502350.1

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 SH3TC1

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
ENST00000245105820689382070935CDS-5UTR
ENST0000024510582186838218894Frame-shift
ENST0000024510582350898235240Frame-shift
ENST0000024510582380048238155Frame-shift
ENST0000024510582114748211549In-frame
ENST0000024510582287068230371In-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
ENST00000245105820689382070935CDS-5UTR
ENST0000024510582186838218894Frame-shift
ENST0000024510582350898235240Frame-shift
ENST0000024510582380048238155Frame-shift
ENST0000024510582114748211549In-frame
ENST0000024510582287068230371In-frame

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Infer the effects of exon skipping event on protein functional features for SH3TC1

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
ENST0000024510542431336821147482115492403145782
ENST00000245105424313368228706823037113533017428983

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
ENST0000024510542431336821147482115492403145782
ENST00000245105424313368228706823037113533017428983

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
Q8TE82578211336ChainID=PRO_0000106355;Note=SH3 domain and tetratricopeptide repeat-containing protein 1
Q8TE8242898311336ChainID=PRO_0000106355;Note=SH3 domain and tetratricopeptide repeat-containing protein 1
Q8TE82428983437437Natural variantID=VAR_034128;Note=L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs1281145,PMID:14702039
Q8TE82428983719719Natural variantID=VAR_035866;Note=In a colorectal cancer sample%3B somatic mutation. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs201295499,PMID:16959974
Q8TE82428983785785Natural variantID=VAR_021934;Note=R->C;Dbxref=dbSNP:rs1281149
Q8TE82428983560593RepeatNote=TPR 1
Q8TE82428983601634RepeatNote=TPR 2
Q8TE82428983665698RepeatNote=TPR 3
Q8TE82428983786819RepeatNote=TPR 4
Q8TE82428983863896RepeatNote=TPR 5
Q8TE82428983946979RepeatNote=TPR 6


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
Q8TE82578211336ChainID=PRO_0000106355;Note=SH3 domain and tetratricopeptide repeat-containing protein 1
Q8TE8242898311336ChainID=PRO_0000106355;Note=SH3 domain and tetratricopeptide repeat-containing protein 1
Q8TE82428983437437Natural variantID=VAR_034128;Note=L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs1281145,PMID:14702039
Q8TE82428983719719Natural variantID=VAR_035866;Note=In a colorectal cancer sample%3B somatic mutation. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs201295499,PMID:16959974
Q8TE82428983785785Natural variantID=VAR_021934;Note=R->C;Dbxref=dbSNP:rs1281149
Q8TE82428983560593RepeatNote=TPR 1
Q8TE82428983601634RepeatNote=TPR 2
Q8TE82428983665698RepeatNote=TPR 3
Q8TE82428983786819RepeatNote=TPR 4
Q8TE82428983863896RepeatNote=TPR 5
Q8TE82428983946979RepeatNote=TPR 6


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SNVs in the skipped exons for SH3TC1

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.
SH3TC1_CESC_exon_skip_422548_psi_boxplot.png
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SH3TC1_COAD_exon_skip_422548_psi_boxplot.png
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SH3TC1_HNSC_exon_skip_422548_psi_boxplot.png
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SH3TC1_LIHC_exon_skip_422548_psi_boxplot.png
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SH3TC1_LUSC_exon_skip_422548_psi_boxplot.png
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SH3TC1_PAAD_exon_skip_422548_psi_boxplot.png
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SH3TC1_THYM_exon_skip_422548_psi_boxplot.png
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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_422535
exon_skip_422536
8206894820709382069668206966Frame_Shift_DelG-p.M15fs
LIHCTCGA-G3-A3CJ-01exon_skip_422535
exon_skip_422536
8206894820709382069718206971Frame_Shift_DelG-p.R17fs
UCECTCGA-AP-A0LT-01exon_skip_422543
8218684821889482187348218734Frame_Shift_DelC-p.P227fs
LIHCTCGA-DD-A3A0-01exon_skip_422543
8218684821889482187548218754Frame_Shift_DelC-p.G157fs
KIRCTCGA-B0-5705-01exon_skip_422543
8218684821889482187688218768Frame_Shift_DelG-p.R238fs
LIHCTCGA-DD-A39Y-01exon_skip_422548
8228707823037182287318228731Frame_Shift_DelT-p.L361fs
LIHCTCGA-DD-A1EG-01exon_skip_422548
8228707823037182289488228948Frame_Shift_DelT-p.P433fs
LIHCTCGA-DD-A3A0-01exon_skip_422548
8228707823037182292978229297Frame_Shift_DelA-p.K550fs
LIHCTCGA-DD-A3A0-01exon_skip_422548
8228707823037182295208229520Frame_Shift_DelC-p.A624fs
COADTCGA-AZ-4615-01exon_skip_422548
8228707823037182296858229685Frame_Shift_DelC-p.A755fs
COADTCGA-CM-4746-01exon_skip_422548
8228707823037182296858229685Frame_Shift_DelC-p.A755fs
COADTCGA-F4-6570-01exon_skip_422548
8228707823037182296858229685Frame_Shift_DelC-p.A755fs
LIHCTCGA-DD-A39Y-01exon_skip_422548
8228707823037182296858229685Frame_Shift_DelC-p.A679fs
LIHCTCGA-G3-A3CJ-01exon_skip_422548
8228707823037182296858229685Frame_Shift_DelC-p.A679fs
LIHCTCGA-G3-A3CJ-01exon_skip_422548
8228707823037182297048229704Frame_Shift_DelC-p.L685fs
LIHCTCGA-DD-A3A0-01exon_skip_422548
8228707823037182302348230234Frame_Shift_DelT-p.L862fs
LIHCTCGA-DD-A3A0-01exon_skip_422548
8228707823037182302588230258Frame_Shift_DelC-p.T870fs
THYMTCGA-XM-A8RE-01exon_skip_422548
8228707823037182302918230291Frame_Shift_DelC-p.T881fs
LIHCTCGA-DD-A3A0-01exon_skip_422548
8228707823037182303198230319Frame_Shift_DelG-p.K890fs
LGGTCGA-DU-6392-01exon_skip_422543
8218684821889482187778218778Frame_Shift_Ins-Tp.W165fs
LUADTCGA-17-Z004-01exon_skip_422548
8228707823037182290608229061Frame_Shift_Ins-Gp.G471fs
PAADTCGA-IB-7651-01exon_skip_422548
8228707823037182289968228996Nonsense_MutationGAp.W449*
PAADTCGA-IB-7651-01exon_skip_422548
8228707823037182289968228996Nonsense_MutationGAp.W525*
PAADTCGA-IB-7651-01exon_skip_422548
8228707823037182289968228996Nonsense_MutationGAp.W525X
LUSCTCGA-39-5031-01exon_skip_422548
8228707823037182290278229027Nonsense_MutationGTp.E536*
HNSCTCGA-TN-A7HL-01exon_skip_422548
8228707823037182296228229622Nonsense_MutationCGp.S658*
LUSCTCGA-18-3409-01exon_skip_422548
8228707823037182298018229801Nonsense_MutationCTp.Q794*
CESCTCGA-C5-A2LZ-01exon_skip_422548
8228707823037182299398229939Nonsense_MutationCTp.Q840*
SKCMTCGA-EE-A2GL-06exon_skip_422543
8218684821889482186838218683Splice_SiteGA.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
SH3TC1_8226907_8226943_8228706_8230371_8233702_8233883_TCGA-18-3409-01Sample: TCGA-18-3409-01
Cancer type: LUSC
ESID: exon_skip_422548
Skipped exon start: 8228707
Skipped exon end: 8230371
Mutation start: 8229801
Mutation end: 8229801
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: T
AAchange: p.Q794*
exon_skip_422548_LUSC_TCGA-18-3409-01.png
boxplot
SH3TC1_8226907_8226943_8228706_8230371_8233702_8233883_TCGA-IB-7651-01Sample: TCGA-IB-7651-01
Cancer type: PAAD
ESID: exon_skip_422548
Skipped exon start: 8228707
Skipped exon end: 8230371
Mutation start: 8228996
Mutation end: 8228996
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.W525X
SH3TC1_8226907_8226943_8228706_8230371_8233702_8233883_TCGA-IB-7651-01Sample: TCGA-IB-7651-01
Cancer type: PAAD
ESID: exon_skip_422548
Skipped exon start: 8228707
Skipped exon end: 8230371
Mutation start: 8228996
Mutation end: 8228996
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.W449*
SH3TC1_8226907_8226943_8228706_8230371_8233702_8233883_TCGA-IB-7651-01Sample: TCGA-IB-7651-01
Cancer type: PAAD
ESID: exon_skip_422548
Skipped exon start: 8228707
Skipped exon end: 8230371
Mutation start: 8228996
Mutation end: 8228996
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.W525*
exon_skip_113241_PAAD_TCGA-IB-7651-01.png
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exon_skip_115380_PAAD_TCGA-IB-7651-01.png
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exon_skip_124564_PAAD_TCGA-IB-7651-01.png
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exon_skip_135806_PAAD_TCGA-IB-7651-01.png
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exon_skip_139341_PAAD_TCGA-IB-7651-01.png
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exon_skip_153733_PAAD_TCGA-IB-7651-01.png
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exon_skip_155805_PAAD_TCGA-IB-7651-01.png
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exon_skip_18053_PAAD_TCGA-IB-7651-01.png
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exon_skip_18056_PAAD_TCGA-IB-7651-01.png
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exon_skip_23067_PAAD_TCGA-IB-7651-01.png
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exon_skip_287059_PAAD_TCGA-IB-7651-01.png
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exon_skip_294631_PAAD_TCGA-IB-7651-01.png
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exon_skip_298512_PAAD_TCGA-IB-7651-01.png
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exon_skip_306900_PAAD_TCGA-IB-7651-01.png
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exon_skip_307723_PAAD_TCGA-IB-7651-01.png
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exon_skip_315960_PAAD_TCGA-IB-7651-01.png
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exon_skip_324675_PAAD_TCGA-IB-7651-01.png
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exon_skip_330351_PAAD_TCGA-IB-7651-01.png
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exon_skip_334330_PAAD_TCGA-IB-7651-01.png
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exon_skip_341784_PAAD_TCGA-IB-7651-01.png
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exon_skip_343314_PAAD_TCGA-IB-7651-01.png
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exon_skip_348329_PAAD_TCGA-IB-7651-01.png
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exon_skip_354232_PAAD_TCGA-IB-7651-01.png
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exon_skip_370626_PAAD_TCGA-IB-7651-01.png
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exon_skip_377740_PAAD_TCGA-IB-7651-01.png
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exon_skip_385032_PAAD_TCGA-IB-7651-01.png
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exon_skip_390031_PAAD_TCGA-IB-7651-01.png
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exon_skip_422548_PAAD_TCGA-IB-7651-01.png
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exon_skip_424536_PAAD_TCGA-IB-7651-01.png
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exon_skip_431753_PAAD_TCGA-IB-7651-01.png
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exon_skip_432982_PAAD_TCGA-IB-7651-01.png
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exon_skip_435489_PAAD_TCGA-IB-7651-01.png
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exon_skip_435729_PAAD_TCGA-IB-7651-01.png
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exon_skip_441705_PAAD_TCGA-IB-7651-01.png
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exon_skip_448879_PAAD_TCGA-IB-7651-01.png
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exon_skip_468347_PAAD_TCGA-IB-7651-01.png
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exon_skip_494000_PAAD_TCGA-IB-7651-01.png
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exon_skip_494029_PAAD_TCGA-IB-7651-01.png
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exon_skip_499410_PAAD_TCGA-IB-7651-01.png
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exon_skip_499695_PAAD_TCGA-IB-7651-01.png
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exon_skip_499697_PAAD_TCGA-IB-7651-01.png
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exon_skip_79905_PAAD_TCGA-IB-7651-01.png
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exon_skip_80096_PAAD_TCGA-IB-7651-01.png
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exon_skip_95924_PAAD_TCGA-IB-7651-01.png
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SH3TC1_8226907_8226943_8228706_8230371_8233702_8233883_TCGA-F4-6570-01Sample: TCGA-F4-6570-01
Cancer type: COAD
ESID: exon_skip_422548
Skipped exon start: 8228707
Skipped exon end: 8230371
Mutation start: 8229685
Mutation end: 8229685
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.A755fs
exon_skip_135806_COAD_TCGA-F4-6570-01.png
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exon_skip_422548_COAD_TCGA-F4-6570-01.png
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exon_skip_454428_COAD_TCGA-F4-6570-01.png
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exon_skip_454431_COAD_TCGA-F4-6570-01.png
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exon_skip_454433_COAD_TCGA-F4-6570-01.png
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exon_skip_89413_COAD_TCGA-F4-6570-01.png
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SH3TC1_8226907_8226943_8228706_8230371_8233702_8233883_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_422548
Skipped exon start: 8228707
Skipped exon end: 8230371
Mutation start: 8228948
Mutation end: 8228948
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.P433fs
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SH3TC1_8226907_8226943_8228706_8230371_8233702_8233883_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_422548
Skipped exon start: 8228707
Skipped exon end: 8230371
Mutation start: 8228731
Mutation end: 8228731
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.L361fs
SH3TC1_8226907_8226943_8228706_8230371_8233702_8233883_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_422548
Skipped exon start: 8228707
Skipped exon end: 8230371
Mutation start: 8229685
Mutation end: 8229685
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.A679fs
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SH3TC1_8226907_8226943_8228706_8230371_8233702_8233883_TCGA-XM-A8RE-01Sample: TCGA-XM-A8RE-01
Cancer type: THYM
ESID: exon_skip_422548
Skipped exon start: 8228707
Skipped exon end: 8230371
Mutation start: 8230291
Mutation end: 8230291
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.T881fs
exon_skip_422548_THYM_TCGA-XM-A8RE-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
IM95_STOMACH8218684821889482187548218754Frame_Shift_DelC-p.G233fs
KURAMOCHI_OVARY8235090823524082351298235129Frame_Shift_DelG-p.L1057fs
KURAMOCHI_OVARY8234135823524082351298235129Frame_Shift_DelG-p.L1057fs
KURAMOCHI_OVARY8235019823524082351298235129Frame_Shift_DelG-p.L1057fs
C33A_CERVIX8228707823037182288738228875In_Frame_DelCTT-p.F485del
R262_CENTRAL_NERVOUS_SYSTEM8206894820709382069558206955Missense_MutationCGp.P12A
127399_SOFT_TISSUE8206894820709382069808206980Missense_MutationTCp.V20A
IGROV1_OVARY8206894820709382070798207079Missense_MutationCTp.A53V
CORL279_LUNG8206894820709382070848207084Missense_MutationGAp.V55M
LOXIMVI_SKIN8211475821154982115448211544Missense_MutationCTp.P81L
LOXIMVI_SKIN8211392821154982115448211544Missense_MutationCTp.P81L
NCIH1155_LUNG8218684821889482186958218695Missense_MutationGAp.V214I
AN3CA_ENDOMETRIUM8218684821889482187048218704Missense_MutationCTp.P217S
SW756_CERVIX8218684821889482188168218816Missense_MutationCGp.S254C
HEC151_ENDOMETRIUM8218684821889482188248218824Missense_MutationCTp.P257S
KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE8218684821889482188258218825Missense_MutationCGp.P257R
SISO_CERVIX8218684821889482188368218836Missense_MutationGAp.V261M
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE8218684821889482188368218836Missense_MutationGAp.V261M
TT_OESOPHAGUS8218684821889482188438218843Missense_MutationCTp.S263F
LS411N_LARGE_INTESTINE8218684821889482188708218870Missense_MutationCAp.P272Q
NCIH2373_PLEURA8228707823037182287938228793Missense_MutationGAp.G458S
NCIH2122_LUNG8228707823037182288328228832Missense_MutationGTp.A471S
NCIBL2122_MATCHED_NORMAL_TISSUE8228707823037182288328228832Missense_MutationGTp.A471S
SKMES1_LUNG8228707823037182288358228835Missense_MutationTCp.S472P
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE8228707823037182288418228841Missense_MutationGAp.D474N
UMCHOR1_BONE8228707823037182289178228917Missense_MutationTAp.L499Q
EFO27_OVARY8228707823037182289688228968Missense_MutationGAp.R516H
639V_URINARY_TRACT8228707823037182290878229087Missense_MutationCTp.L556F
NCIH2126_LUNG8228707823037182291218229121Missense_MutationGTp.G567V
NKL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE8228707823037182292528229252Missense_MutationTAp.Y611N
MDAPCA2B_PROSTATE8228707823037182292558229255Missense_MutationCTp.R612W
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE8228707823037182293078229307Missense_MutationCAp.A629D
SUM159PT_BREAST8228707823037182294728229472Missense_MutationCAp.A684D
SNU1105_CENTRAL_NERVOUS_SYSTEM8228707823037182294908229490Missense_MutationGAp.R690Q
HCT15_LARGE_INTESTINE8228707823037182294928229492Missense_MutationCAp.L691M
MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE8228707823037182295328229532Missense_MutationCTp.A704V
HCC15_LUNG8228707823037182296288229628Missense_MutationGAp.R736Q
HEC59_ENDOMETRIUM8228707823037182296458229645Missense_MutationGAp.A742T
HEC251_ENDOMETRIUM8228707823037182296848229684Missense_MutationGAp.A755T
BICR10_UPPER_AERODIGESTIVE_TRACT8228707823037182297098229709Missense_MutationCTp.A763V
NCIH630_LARGE_INTESTINE8228707823037182297368229736Missense_MutationCTp.A772V
TE1_OESOPHAGUS8228707823037182297478229747Missense_MutationCAp.L776M
OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE8228707823037182297698229769Missense_MutationCTp.A783V
MM415_SKIN8228707823037182297818229781Missense_MutationCTp.P787L
LB996EBV_MATCHED_NORMAL_TISSUE8228707823037182298488229848Missense_MutationGAp.M809I
LB996RCC_KIDNEY8228707823037182298488229848Missense_MutationGAp.M809I
BE2M17_AUTONOMIC_GANGLIA8228707823037182298948229894Missense_MutationGAp.V825M
SKNBE2_AUTONOMIC_GANGLIA8228707823037182298948229894Missense_MutationGAp.V825M
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE8228707823037182299248229924Missense_MutationCGp.H835D
LS1034_MATCHED_NORMAL_TISSUE8228707823037182299958229995Missense_MutationCGp.S858R
LS1034_LARGE_INTESTINE8228707823037182299958229995Missense_MutationCGp.S858R
COLO201_LARGE_INTESTINE8228707823037182300118230011Missense_MutationGAp.V864M
SNGM_ENDOMETRIUM8228707823037182300118230011Missense_MutationGAp.V864M
COLO205_LARGE_INTESTINE8228707823037182300118230011Missense_MutationGAp.V864M
SNU81_LARGE_INTESTINE8228707823037182300568230056Missense_MutationACp.T879P
HOP92_LUNG8228707823037182300628230062Missense_MutationCAp.Q881K
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE8228707823037182301048230104Missense_MutationGAp.D895N
CAL39_VULVA8228707823037182301358230135Missense_MutationGAp.G905E
SJSA1_BONE8228707823037182301928230192Missense_MutationAGp.H924R
253J_URINARY_TRACT8228707823037182302368230236Missense_MutationGCp.G939R
253JBV_URINARY_TRACT8228707823037182302368230236Missense_MutationGCp.G939R
NCIH748_LUNG8228707823037182302418230241Missense_MutationGTp.E940D
GIMEN_AUTONOMIC_GANGLIA8228707823037182302638230263Missense_MutationGAp.V948M
HEC251_ENDOMETRIUM8235090823524082350988235098Missense_MutationACp.K1047T
HEC251_ENDOMETRIUM8234135823524082350988235098Missense_MutationACp.K1047T
HEC251_ENDOMETRIUM8235019823524082350988235098Missense_MutationACp.K1047T
MON_SOFT_TISSUE8235090823524082351038235103Missense_MutationGAp.A1049T
MON_SOFT_TISSUE8234135823524082351038235103Missense_MutationGAp.A1049T
MON_SOFT_TISSUE8235019823524082351038235103Missense_MutationGAp.A1049T
HEC108_ENDOMETRIUM8235090823524082351038235103Missense_MutationGAp.A1049T
HEC108_ENDOMETRIUM8234135823524082351038235103Missense_MutationGAp.A1049T
HEC108_ENDOMETRIUM8235019823524082351038235103Missense_MutationGAp.A1049T
SNU1077_ENDOMETRIUM8238005823815582380298238030Missense_MutationACTTp.T1144F
SNU1077_ENDOMETRIUM8238005823815582380298238029Missense_MutationATp.T1144S
SNU1077_ENDOMETRIUM8238005823815582380308238030Missense_MutationCTp.T1144I
EFO27_OVARY8238005823815582380338238033Missense_MutationCGp.T1145R
K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE8238005823815582380808238080Missense_MutationCGp.L1161V
LS411N_LARGE_INTESTINE8238005823815582380878238087Missense_MutationCTp.A1163V
HCC2450_LUNG8228707823037182300718230071Nonsense_MutationGTp.E884*
IM95_STOMACH8235090823524082352118235211Nonsense_MutationCTp.Q1085*
IM95_STOMACH8234135823524082352118235211Nonsense_MutationCTp.Q1085*
IM95_STOMACH8235019823524082352118235211Nonsense_MutationCTp.Q1085*
CORL311_LUNG8206894820709382070928207092Splice_SiteCTp.G57G
A204_SOFT_TISSUE8206894820709382070938207093Splice_SiteGAp.D58N

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SH3TC1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1CESCrs3775905chr4:8234381A/G6.67e-05
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1CESCrs1281093chr4:8234904C/T2.33e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1CESCrs2291072chr4:8234929A/C1.06e-03
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1BLCArs3775905chr4:8234381A/G2.84e-05
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1BLCArs1281093chr4:8234904C/T6.20e-05
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1BLCArs2291072chr4:8234929A/C9.14e-05
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1ESCArs1281093chr4:8234904C/T2.54e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1HNSCrs3775905chr4:8234381A/G2.41e-09
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1HNSCrs2291072chr4:8234929A/C8.30e-08
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1HNSCrs1281093chr4:8234904C/T8.34e-07
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1BRCArs3775905chr4:8234381A/G1.64e-03
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1BRCArs1281093chr4:8234904C/T2.55e-03
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1BRCArs2291072chr4:8234929A/C5.40e-03
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1KIRPrs3775905chr4:8234381A/G1.12e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1KIRPrs1281093chr4:8234904C/T3.18e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1KIRPrs2291072chr4:8234929A/C7.56e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1LGGrs1281093chr4:8234904C/T4.84e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1LGGrs3775905chr4:8234381A/G6.07e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1LGGrs2291072chr4:8234929A/C7.01e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1KIRCrs3775905chr4:8234381A/G8.54e-05
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1KIRCrs1281093chr4:8234904C/T1.38e-03
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1KIRCrs3775905chr4:8234381A/G2.17e-03
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1KIRCrs3775905chr4:8234381A/G2.22e-03
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1KIRCrs2291072chr4:8234929A/C2.91e-03
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1LUADrs2291072chr4:8234929A/C2.08e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1LUADrs1281093chr4:8234904C/T4.41e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1LUADrs3775905chr4:8234381A/G8.97e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1LUSCrs3775905chr4:8234381A/G1.44e-05
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1LUSCrs2291072chr4:8234929A/C7.63e-05
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1LUSCrs1281093chr4:8234904C/T2.01e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1OVrs2291072chr4:8234929A/C2.63e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1OVrs1281093chr4:8234904C/T3.61e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1OVrs3775905chr4:8234381A/G1.71e-03
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1PRADrs3775905chr4:8234381A/G3.01e-06
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1PRADrs1281093chr4:8234904C/T1.25e-05
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1PRADrs2291072chr4:8234929A/C8.46e-05
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1THYMrs3775905chr4:8234381A/G4.14e-05
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1THYMrs1281093chr4:8234904C/T1.15e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1THYMrs2291072chr4:8234929A/C1.62e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1STADrs3775905chr4:8234381A/G3.26e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1THCArs3775905chr4:8234381A/G6.33e-04
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1THCArs3775905chr4:8234381A/G1.63e-03
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1THCArs3775905chr4:8234381A/G1.63e-03
exon_skip_42255148233702:8233883:8234134:8235240:8237159:82372828234134:8235240ENST00000502350.1,ENST00000506360.1THCArs1281093chr4:8234904C/T2.03e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SH3TC1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SH3TC1


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RelatedDrugs for SH3TC1

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 SH3TC1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
SH3TC1C0009404Colorectal Neoplasms1CTD_human