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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 TTF2

check button Gene summary
Gene informationGene symbol

TTF2

Gene ID

8458

Gene nametranscription termination factor 2
SynonymsHuF2|ZGRF6
Cytomap

1p13.1

Type of geneprotein-coding
Descriptiontranscription termination factor 2F2RNA polymerase II termination factorhuman factor 2lodestar homologlodestar proteintranscription release factor 2transcription termination factor, RNA polymerase IIzinc finger, GRF-type containing 6
Modification date20180519
UniProtAcc

Q9UNY4

ContextPubMed: TTF2 [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 TTF2 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 TTF2

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 TTF2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_91021117605008:117605095:117616282:117616349:117617491:117618066117616282:117616349ENSG00000116830.7ENST00000470935.1,ENST00000369466.4
exon_skip_91031117620537:117620665:117622189:117622271:117624449:117624569117622189:117622271ENSG00000116830.7ENST00000369466.4
exon_skip_91051117624452:117624569:117626639:117626790:117629038:117629144117626639:117626790ENSG00000116830.7ENST00000369466.4
exon_skip_91091117631422:117631604:117632676:117632830:117633153:117633245117632676:117632830ENSG00000116830.7ENST00000369466.4
exon_skip_91101117633949:117634032:117634438:117634572:117635352:117635523117634438:117634572ENSG00000116830.7ENST00000369466.4
exon_skip_91111117637946:117637989:117638770:117638921:117639972:117640055117638770:117638921ENSG00000116830.7ENST00000463696.1,ENST00000369466.4
exon_skip_91121117638792:117638921:117639972:117640055:117640827:117640860117639972:117640055ENSG00000116830.7ENST00000463696.1
exon_skip_91131117638792:117638921:117639972:117640055:117641454:117641529117639972:117640055ENSG00000116830.7ENST00000427271.1,ENST00000369466.4
exon_skip_91151117638792:117638921:117640827:117640860:117641454:117641529117640827:117640860ENSG00000116830.7ENST00000492682.1
exon_skip_91161117639972:117640055:117640827:117640860:117641454:117641529117640827:117640860ENSG00000116830.7ENST00000463696.1

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

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Exon skipping events with PSIs in GTEx for TTF2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_91021117605008:117605095:117616282:117616349:117617491:117618066117616282:117616349ENSG00000116830.7ENST00000369466.4,ENST00000470935.1
exon_skip_91031117620537:117620665:117622189:117622271:117624449:117624569117622189:117622271ENSG00000116830.7ENST00000369466.4
exon_skip_91051117624452:117624569:117626639:117626790:117629038:117629144117626639:117626790ENSG00000116830.7ENST00000369466.4
exon_skip_91091117631422:117631604:117632676:117632830:117633153:117633245117632676:117632830ENSG00000116830.7ENST00000369466.4
exon_skip_91101117633949:117634032:117634438:117634572:117635352:117635523117634438:117634572ENSG00000116830.7ENST00000369466.4
exon_skip_91111117637946:117637989:117638770:117638921:117639972:117640055117638770:117638921ENSG00000116830.7ENST00000369466.4,ENST00000463696.1
exon_skip_91121117638792:117638921:117639972:117640055:117640827:117640860117639972:117640055ENSG00000116830.7ENST00000463696.1
exon_skip_91131117638792:117638921:117639972:117640055:117641454:117641529117639972:117640055ENSG00000116830.7ENST00000369466.4,ENST00000427271.1
exon_skip_91151117638792:117638921:117640827:117640860:117641454:117641529117640827:117640860ENSG00000116830.7ENST00000492682.1
exon_skip_91161117639972:117640055:117640827:117640860:117641454:117641529117640827:117640860ENSG00000116830.7ENST00000463696.1

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 TTF2

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
ENST00000369466117616282117616349Frame-shift
ENST00000369466117622189117622271Frame-shift
ENST00000369466117626639117626790Frame-shift
ENST00000369466117632676117632830Frame-shift
ENST00000369466117634438117634572Frame-shift
ENST00000369466117638770117638921Frame-shift
ENST00000369466117639972117640055Frame-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
ENST00000369466117616282117616349Frame-shift
ENST00000369466117622189117622271Frame-shift
ENST00000369466117626639117626790Frame-shift
ENST00000369466117632676117632830Frame-shift
ENST00000369466117634438117634572Frame-shift
ENST00000369466117638770117638921Frame-shift
ENST00000369466117639972117640055Frame-shift

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Infer the effects of exon skipping event on protein functional features for TTF2

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 TTF2

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
LUADTCGA-78-7155-01exon_skip_9105
117626640117626790117626641117626642Frame_Shift_DelCT-p.D635fs
LUADTCGA-38-4625-01exon_skip_9105
117626640117626790117626717117626717Nonsense_MutationGTp.E661*
CESCTCGA-EK-A3GK-01exon_skip_9110
117634439117634572117634490117634490Nonsense_MutationCGp.S908*
CESCTCGA-EK-A2RC-01exon_skip_9111
117638771117638921117638784117638784Nonsense_MutationCTp.Q1017*
BLCATCGA-ZF-A9RG-01exon_skip_9111
117638771117638921117638919117638919Nonsense_MutationCTp.Q1062*

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
NCIH23_LUNG117622190117622271117622236117622236Frame_Shift_DelG-p.W583fs
TOV21G_OVARY117626640117626790117626705117626705Frame_Shift_DelA-p.K657fs
NCIH441_LUNG117616283117616349117616333117616333Missense_MutationGAp.G90E
LU134A_LUNG117626640117626790117626763117626763Missense_MutationGTp.G676V
SNGM_ENDOMETRIUM117626640117626790117626771117626771Missense_MutationCTp.R679W
TOV21G_OVARY117626640117626790117626780117626780Missense_MutationCTp.R682C
HCT116_LARGE_INTESTINE117632677117632830117632682117632682Missense_MutationTCp.L783P
NCIH2342_LUNG117634439117634572117634505117634505Missense_MutationCTp.T913I
SNU1040_LARGE_INTESTINE117634439117634572117634537117634537Missense_MutationCTp.R924C
SW962_VULVA117638771117638921117638845117638845Missense_MutationCAp.A1037D
SW756_CERVIX117638771117638921117638871117638871Missense_MutationAGp.K1046E
DAOY_CENTRAL_NERVOUS_SYSTEM117639973117640055117639983117639983Missense_MutationTCp.I1066T
SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE117616283117616349117616348117616348Splice_SiteATp.Q95L

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TTF2

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 TTF2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTF2


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RelatedDrugs for TTF2

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 TTF2

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