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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 RPSMAP, MSBB, and Mayo

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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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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for TCF12

check button Gene summary
Gene informationGene symbol

TCF12

Gene ID

6938

Gene nametranscription factor 12
SynonymsCRS3|HEB|HTF4|HsT17266|TCF-12|bHLHb20|p64
Cytomap

15q21.3

Type of geneprotein-coding
Descriptiontranscription factor 12DNA-binding protein HTF4E-box-binding proteinclass B basic helix-loop-helix protein 20helix-loop-helix transcription factor 4transcription factor HTF-4
Modification date20200313
UniProtAcc

A0A024R5T1,

A0A024R5Z0,

B4DGI9,

B4DZP2,

F5GY10,

H0YML2,

H0YNP8,

H0YNQ5,

H3BNF4,

H3BRK2,

Q99081,

Q9NQY1,

Q9NQY2,

Q9NQY3,

Q9NQY4,

Q9NQY5,

Q9NQY6,

Q9NQY7,

Q9NQY8,

Q9NQY9,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
TCF12

GO:0045944

positive regulation of transcription by RNA polymerase II

11802795


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Gene structures and expression levels for TCF12

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo 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

ENSG00000140262
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
PGUPENST00000557843.5TCF12-207:protein_coding:TCF121.870242e+021.218134e+003.622376e-047.022343e-03
CBUPENST00000561235.5TCF12-223:lncRNA:TCF129.369584e+008.381987e-013.607400e-053.121560e-04
CBUPENST00000559703.1TCF12-213:protein_coding:TCF122.264826e+018.145194e-019.545960e-033.346840e-02
TCUPENST00000557947.5TCF12-208:protein_coding:TCF121.027967e+011.070604e+003.306452e-071.641365e-05
TCUPENST00000557843.5TCF12-207:protein_coding:TCF121.654591e+022.177753e+002.134325e-042.948258e-03
TCUPENST00000559703.1TCF12-213:protein_coding:TCF121.597367e+018.952665e-015.578779e-033.635907e-02
TCUPENST00000558908.5TCF12-210:lncRNA:TCF123.593101e+008.432232e-016.667745e-034.149610e-02

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for TCF12

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_105136chr1557243472:57243550:57251350:57251423:57253262:5725346857251350:57251423
exon_skip_116030chr1557232712:57232856:57234043:57234107:57243472:5724351557234043:57234107
exon_skip_117746chr1556921026:56921098:57001349:57001384:57063750:5706382357001349:57001384
exon_skip_145661chr1557273033:57273262:57282445:57282598:57286157:5728625157282445:57282598
exon_skip_158744chr1557091789:57091891:57166402:57166466:57192158:5719223957166402:57166466
exon_skip_161850chr1557251350:57251423:57252421:57252492:57253262:5725346857252421:57252492
exon_skip_197474chr1557166402:57166466:57192158:57192293:57197773:5719782557192158:57192293
exon_skip_228262chr1556921026:56921098:57072653:57072714:57091789:5709182957072653:57072714
exon_skip_245889chr1557231152:57231257:57232291:57232430:57232712:5723285657232291:57232430
exon_skip_247111chr1556921026:56921098:57091789:57091891:57166402:5716642857091789:57091891
exon_skip_286305chr1556921026:56921098:57063750:57063823:57091789:5709182957063750:57063823
exon_skip_50517chr1557234043:57234107:57243472:57243550:57251350:5725142357243472:57243550
exon_skip_58831chr1556921026:56921098:57063750:57063823:57091789:5709189157063750:57063823
exon_skip_70508chr1556921026:56921098:57072653:57072714:57091789:5709189157072653:57072714

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_161850MSBB_PG1.924000e-013.054167e-01-1.130167e-014.203890e-04


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Open reading frame (ORF) annotation in the exon skipping event for TCF12

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002678115706375057063823Frame-shift
ENST000005578435706375057063823Frame-shift
ENST000002678115716640257166466Frame-shift
ENST000005578435716640257166466Frame-shift
ENST000002678115723229157232430Frame-shift
ENST000005578435723229157232430Frame-shift
ENST000002678115725135057251423Frame-shift
ENST000005578435725135057251423Frame-shift

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002678115706375057063823Frame-shift
ENST000005578435706375057063823Frame-shift
ENST000002678115723229157232430Frame-shift
ENST000005578435723229157232430Frame-shift

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000026781157282445572825983UTR-3CDS
ENST0000055784357282445572825983UTR-3CDS
ENST000002678115706375057063823Frame-shift
ENST000005578435706375057063823Frame-shift
ENST000002678115716640257166466Frame-shift
ENST000005578435716640257166466Frame-shift
ENST000002678115719215857192293Frame-shift
ENST000005578435719215857192293Frame-shift
ENST000002678115723229157232430Frame-shift
ENST000005578435723229157232430Frame-shift
ENST000002678115723404357234107Frame-shift
ENST000005578435723404357234107Frame-shift
ENST000002678115724347257243550Frame-shift
ENST000005578435724347257243550Frame-shift
ENST000002678115725135057251423Frame-shift
ENST000005578435725135057251423Frame-shift

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Infer the effects of exon skipping event on protein functional features for TCF12

p-ENSG00000140262_img4.png
boxplot

check button Loci of skipped exons in ROSMAP 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 MSBB 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 Mayo 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 ROSMAP.
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 MSBB.
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 Mayo.
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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3'-UTR located exon skipping events that lost miRNA binding sites in TCF12

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for TCF12

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

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for TCF12

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TCF12

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for TCF12

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBNUP42exon_skip_1618505.800720e-013.914017e-15
HCCZNF326exon_skip_161850-5.768297e-011.592779e-25
HCCSRSF11exon_skip_161850-5.136302e-011.032815e-19
HCCKHDRBS3exon_skip_161850-5.226256e-011.817908e-20
HCCPABPC1exon_skip_161850-4.083227e-012.362991e-12
PCCZNF326exon_skip_161850-4.335507e-014.926453e-11
PGSRSF2exon_skip_1618504.597936e-011.968388e-10
PGSRSF11exon_skip_1618504.374001e-011.773580e-09
PGKHDRBS3exon_skip_1618505.302023e-016.288839e-14
PGNUP42exon_skip_1618505.206952e-012.082709e-13
PGCELF1exon_skip_1618505.264855e-011.008839e-13
PGSART3exon_skip_1618504.753256e-013.891338e-11
STGNUP42exon_skip_1618504.222832e-013.011686e-04
TCSRSF2exon_skip_1618504.608557e-011.597259e-09
TCNUP42exon_skip_1618504.611781e-011.550767e-09
TCSRSF5exon_skip_1618504.969472e-014.798928e-11

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RelatedDrugs for TCF12

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TCF12

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