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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 TXNDC16

check button Gene summary
Gene informationGene symbol

TXNDC16

Gene ID

57544

Gene namethioredoxin domain containing 16
SynonymsERp90|KIAA1344
Cytomap

14q22.1

Type of geneprotein-coding
Descriptionthioredoxin domain-containing protein 16
Modification date20180519
UniProtAcc

Q9P2K2

ContextPubMed: TXNDC16 [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 TXNDC16 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 TXNDC16

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 TXNDC16

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1133171452907281:52907442:52922041:52922180:52923807:5292389252922041:52922180ENSG00000087301.4ENST00000281741.4
exon_skip_1133231452922158:52922180:52923807:52923892:52936754:5293689152923807:52923892ENSG00000087301.4ENST00000281741.4
exon_skip_1133261452923807:52923892:52929529:52929688:52936754:5293688552929529:52929688ENSG00000087301.4ENST00000555312.1
exon_skip_1133311452955080:52955204:52957108:52957169:52957556:5295772352957108:52957169ENSG00000087301.4ENST00000557374.1,ENST00000281741.4
exon_skip_1133341452957556:52957723:52977957:52978108:52981597:5298168852977957:52978108ENSG00000087301.4ENST00000281741.4
exon_skip_1133351453003436:53003511:53004316:53004390:53009088:5300917153004316:53004390ENSG00000087301.4ENST00000281741.4

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

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Exon skipping events with PSIs in GTEx for TXNDC16

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1133171452907281:52907442:52922041:52922180:52923807:5292389252922041:52922180ENSG00000087301.4ENST00000281741.4
exon_skip_1133231452922158:52922180:52923807:52923892:52936754:5293689152923807:52923892ENSG00000087301.4ENST00000281741.4
exon_skip_1133261452923807:52923892:52929529:52929688:52936754:5293688552929529:52929688ENSG00000087301.4ENST00000555312.1
exon_skip_1133311452955080:52955204:52957108:52957169:52957556:5295772352957108:52957169ENSG00000087301.4ENST00000281741.4,ENST00000557374.1
exon_skip_1133341452957556:52957723:52977957:52978108:52981597:5298168852977957:52978108ENSG00000087301.4ENST00000281741.4
exon_skip_1133351453003436:53003511:53004316:53004390:53009088:5300917153004316:53004390ENSG00000087301.4ENST00000281741.4

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 TXNDC16

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
ENST000002817415292204152922180Frame-shift
ENST000002817415292380752923892Frame-shift
ENST000002817415295710852957169Frame-shift
ENST000002817415297795752978108Frame-shift
ENST000002817415300431653004390Frame-shift

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
ENST000002817415292204152922180Frame-shift
ENST000002817415292380752923892Frame-shift
ENST000002817415295710852957169Frame-shift
ENST000002817415297795752978108Frame-shift
ENST000002817415300431653004390Frame-shift

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Infer the effects of exon skipping event on protein functional features for TXNDC16

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


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SNVs in the skipped exons for TXNDC16

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A39Y-01exon_skip_113323
52923808529238925292381452923814Frame_Shift_DelA-p.L568fs
LIHCTCGA-DD-A3A0-01exon_skip_113323
52923808529238925292381452923814Frame_Shift_DelA-p.L568fs
LIHCTCGA-DD-A1EG-01exon_skip_113323
52923808529238925292385552923855Frame_Shift_DelT-p.K552fs
LIHCTCGA-DD-A3A0-01exon_skip_113323
52923808529238925292385552923855Frame_Shift_DelT-p.K552fs
LIHCTCGA-DD-A39Y-01exon_skip_113334
52977958529781085297807252978072Frame_Shift_DelA-p.F214fs
BRCATCGA-A1-A0SP-01exon_skip_113334
52977958529781085297809552978095Nonsense_MutationCAp.E207*
LGGTCGA-FG-5963-01exon_skip_113317
52922042529221805292204152922041Splice_SiteCT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
MEWO_SKIN52922042529221805292206852922068Missense_MutationTAp.I606L
PFEIFFER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE52922042529221805292209552922095Missense_MutationTGp.T597P
NCIH1568_LUNG52923808529238925292384852923848Missense_MutationCAp.V555F
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE52957109529571695295714052957140Missense_MutationTCp.D318G
CORL47_LUNG52977958529781085297796352977963Missense_MutationGTp.L251M
MERO41_LUNG52977958529781085297797552977975Missense_MutationTCp.M247V
JHUEM7_ENDOMETRIUM52977958529781085297800552978005Missense_MutationTCp.T237A
SW1783_CENTRAL_NERVOUS_SYSTEM52977958529781085297804852978048Missense_MutationCAp.L222F
CORL47_LUNG52977958529781085297807152978071Missense_MutationGTp.H215N
SUM229PE_BREAST52977958529781085297808552978085Missense_MutationTCp.H210R
HEC251_ENDOMETRIUM52923808529238925292388752923887Nonsense_MutationCAp.E542*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TXNDC16

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 TXNDC16


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TXNDC16


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RelatedDrugs for TXNDC16

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 TXNDC16

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