FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:C12orf45-TXNRD1 (FusionGDB2 ID:10886)

Fusion Gene Summary for C12orf45-TXNRD1

check button Fusion gene summary
Fusion gene informationFusion gene name: C12orf45-TXNRD1
Fusion gene ID: 10886
HgeneTgene
Gene symbol

C12orf45

TXNRD1

Gene ID

121053

7296

Gene namechromosome 12 open reading frame 45thioredoxin reductase 1
Synonyms-GRIM-12|TR|TR1|TRXR1|TXNR
Cytomap

12q23.3

12q23.3

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein C12orf45thioredoxin reductase 1, cytoplasmicKM-102-derived reductase-like factorgene associated with retinoic and IFN-induced mortality 12 proteingene associated with retinoic and interferon-induced mortality 12 proteinoxidoreductasetestis tissue sperm-bindi
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000552951, ENST00000280749, 
ENST00000548583, 
ENST00000525566, 
ENST00000429002, ENST00000503506, 
ENST00000526691, ENST00000388854, 
ENST00000354940, ENST00000526390, 
ENST00000529546, ENST00000540716, 
ENST00000524698, ENST00000542918, 
ENST00000378070, ENST00000397736, 
ENST00000427956, ENST00000526950, 
ENST00000526006, 
Fusion gene scores* DoF score3 X 2 X 2=1211 X 11 X 4=484
# samples 212
** MAII scorelog2(2/12*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(12/484*10)=-2.01197264166608
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C12orf45 [Title/Abstract] AND TXNRD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC12orf45(105385626)-TXNRD1(104721293), # samples:1
Anticipated loss of major functional domain due to fusion event.C12orf45-TXNRD1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
C12orf45-TXNRD1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check buttonFusion gene breakpoints across C12orf45 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across TXNRD1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SARCTCGA-DX-A48N-01AC12orf45chr12

105385626

+TXNRD1chr12

104721293

+


Top

Fusion Gene ORF analysis for C12orf45-TXNRD1

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000552951ENST00000525566C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
Frame-shiftENST00000552951ENST00000429002C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
Frame-shiftENST00000552951ENST00000503506C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
Frame-shiftENST00000552951ENST00000526691C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
Frame-shiftENST00000552951ENST00000388854C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
Frame-shiftENST00000552951ENST00000354940C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
Frame-shiftENST00000552951ENST00000526390C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
Frame-shiftENST00000552951ENST00000529546C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
Frame-shiftENST00000552951ENST00000540716C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
Frame-shiftENST00000552951ENST00000524698C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
Frame-shiftENST00000552951ENST00000542918C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
Frame-shiftENST00000552951ENST00000378070C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
Frame-shiftENST00000552951ENST00000397736C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
Frame-shiftENST00000552951ENST00000427956C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
Frame-shiftENST00000552951ENST00000526950C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
5CDS-intronENST00000552951ENST00000526006C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000280749ENST00000525566C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000280749ENST00000429002C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000280749ENST00000503506C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000280749ENST00000526691C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000280749ENST00000388854C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000280749ENST00000354940C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000280749ENST00000526390C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000280749ENST00000529546C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000280749ENST00000540716C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000280749ENST00000524698C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000280749ENST00000542918C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000280749ENST00000378070C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000280749ENST00000397736C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000280749ENST00000427956C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000280749ENST00000526950C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-intronENST00000280749ENST00000526006C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000548583ENST00000525566C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000548583ENST00000429002C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000548583ENST00000503506C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000548583ENST00000526691C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000548583ENST00000388854C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000548583ENST00000354940C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000548583ENST00000526390C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000548583ENST00000529546C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000548583ENST00000540716C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000548583ENST00000524698C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000548583ENST00000542918C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000548583ENST00000378070C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000548583ENST00000397736C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000548583ENST00000427956C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-3CDSENST00000548583ENST00000526950C12orf45chr12

105385626

+TXNRD1chr12

104721293

+
intron-intronENST00000548583ENST00000526006C12orf45chr12

105385626

+TXNRD1chr12

104721293

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

Top

Fusion Genomic Features for C12orf45-TXNRD1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
C12orf45chr12105385626+TXNRD1chr12104721292+2.25E-050.99997747
C12orf45chr12105385626+TXNRD1chr12104721292+2.25E-050.99997747

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

Top

Fusion Protein Features for C12orf45-TXNRD1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

Fusion Gene Sequence for C12orf45-TXNRD1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

Top

Fusion Gene PPI Analysis for C12orf45-TXNRD1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs for C12orf45-TXNRD1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for C12orf45-TXNRD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTXNRD1C0001430Adenoma1CTD_human
TgeneTXNRD1C0009402Colorectal Carcinoma1CTD_human
TgeneTXNRD1C0009404Colorectal Neoplasms1CTD_human
TgeneTXNRD1C0011616Contact Dermatitis1CTD_human
TgeneTXNRD1C0014544Epilepsy1CTD_human
TgeneTXNRD1C0025500Mesothelioma1CTD_human
TgeneTXNRD1C0029408Degenerative polyarthritis1CTD_human
TgeneTXNRD1C0086237Epilepsy, Cryptogenic1CTD_human
TgeneTXNRD1C0086743Osteoarthrosis Deformans1CTD_human
TgeneTXNRD1C0151744Myocardial Ischemia1CTD_human
TgeneTXNRD1C0162351Contact hypersensitivity1CTD_human
TgeneTXNRD1C0205646Adenoma, Basal Cell1CTD_human
TgeneTXNRD1C0205647Follicular adenoma1CTD_human
TgeneTXNRD1C0205648Adenoma, Microcystic1CTD_human
TgeneTXNRD1C0205649Adenoma, Monomorphic1CTD_human
TgeneTXNRD1C0205650Papillary adenoma1CTD_human
TgeneTXNRD1C0205651Adenoma, Trabecular1CTD_human
TgeneTXNRD1C0236018Aura1CTD_human
TgeneTXNRD1C0243038Carcinoma, Lewis Lung1CTD_human
TgeneTXNRD1C0751111Awakening Epilepsy1CTD_human