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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 TFPT

check button Gene summary
Gene informationGene symbol

TFPT

Gene ID

29844

Gene nameTCF3 fusion partner
SynonymsFB1|INO80F|amida
Cytomap

19q13.42

Type of geneprotein-coding
DescriptionTCF3 fusion partnerINO80 complex subunit FTCF3 (E2A) fusion partner (in childhood Leukemia)amida, partner of the E2A
Modification date20180523
UniProtAcc

P0C1Z6

ContextPubMed: TFPT [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
TFPT

GO:0097190

apoptotic signaling pathway

17041757


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Exon skipping events across known transcript of Ensembl for TFPT 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 TFPT

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 TFPT

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3221521954611332:54611551:54611632:54611702:54617821:5461808054611632:54611702ENSG00000105619.9ENST00000420715.2
exon_skip_3221581954611632:54611702:54613433:54613504:54617821:5461808054613433:54613504ENSG00000105619.9ENST00000391758.1,ENST00000391759.1,ENST00000391757.1
exon_skip_3221621954611632:54611702:54617821:54618080:54618626:5461866554617821:54618080ENSG00000105619.9ENST00000420715.2
exon_skip_3221691954613433:54613504:54617821:54618080:54618626:5461866554617821:54618080ENSG00000105619.9ENST00000391757.1

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

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Exon skipping events with PSIs in GTEx for TFPT

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3221521954611332:54611551:54611632:54611702:54617821:5461808054611632:54611702ENSG00000105619.9ENST00000420715.2
exon_skip_3221581954611632:54611702:54613433:54613504:54617821:5461808054613433:54613504ENSG00000105619.9ENST00000391759.1,ENST00000391758.1,ENST00000391757.1
exon_skip_3221621954611632:54611702:54617821:54618080:54618626:5461866554617821:54618080ENSG00000105619.9ENST00000420715.2
exon_skip_3221691954613433:54613504:54617821:54618080:54618626:5461866554617821:54618080ENSG00000105619.9ENST00000391757.1

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 TFPT

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

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

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

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 TFPT

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
READTCGA-AH-6644-01exon_skip_322169
exon_skip_322162
54617822546180805461805154618051Frame_Shift_DelA-p.F18fs
ESCATCGA-LN-A4A6-01exon_skip_322169
exon_skip_322162
54617822546180805461783754617837Nonsense_MutationGTp.C89*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
TFPT_54613433_54613504_54617821_54618080_54618626_54618665_TCGA-AH-6644-01Sample: TCGA-AH-6644-01
Cancer type: READ
ESID: exon_skip_322162
Skipped exon start: 54617822
Skipped exon end: 54618080
Mutation start: 54618051
Mutation end: 54618051
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.F18fs
exon_skip_322162_READ_TCGA-AH-6644-01.png
boxplot
exon_skip_322169_READ_TCGA-AH-6644-01.png
boxplot
TFPT_54611632_54611702_54617821_54618080_54618626_54618665_TCGA-AH-6644-01Sample: TCGA-AH-6644-01
Cancer type: READ
ESID: exon_skip_322162
Skipped exon start: 54617822
Skipped exon end: 54618080
Mutation start: 54618051
Mutation end: 54618051
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.F18fs
exon_skip_322162_READ_TCGA-AH-6644-01.png
boxplot
exon_skip_322169_READ_TCGA-AH-6644-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE54617822546180805461792954617929Frame_Shift_DelC-p.E59fs
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE54617822546180805461793354617937Frame_Shift_DelGAGCC-p.GL56fs
HCT116_LARGE_INTESTINE54617822546180805461795954617960Frame_Shift_DelAC-p.S49fs
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE54617822546180805461784654617847Frame_Shift_Ins-Cp.G86fs
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE54611633546117025461167454611674Missense_MutationCTp.G128R
GP2D_LARGE_INTESTINE54611633546117025461169454611694Missense_MutationAGp.M121T
GP5D_LARGE_INTESTINE54611633546117025461169454611694Missense_MutationAGp.M121T
HCT15_LARGE_INTESTINE54613434546135045461344354613443Missense_MutationTCp.Q115R
SNU1040_LARGE_INTESTINE54617822546180805461784154617841Missense_MutationCTp.R88H
SNU175_LARGE_INTESTINE54617822546180805461784254617842Missense_MutationGAp.R88C
IGROV1_OVARY54617822546180805461784554617845Missense_MutationGAp.R87W
SNU1040_LARGE_INTESTINE54617822546180805461786854617868Missense_MutationCTp.R79H
SNU407_LARGE_INTESTINE54617822546180805461788154617881Missense_MutationGAp.R75W
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE54617822546180805461795254617952Missense_MutationCAp.G51V
MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE54617822546180805461800154618001Missense_MutationGCp.H35D
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE54617822546180805461802154618021Missense_MutationAGp.L28S
SLR24_KIDNEY54617822546180805461804554618045Missense_MutationGTp.A20E
SLR24_KIDNEY54617822546180805461804654618046Missense_MutationCGp.A20P

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

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 TFPT


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


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RelatedDrugs for TFPT

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 TFPT

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