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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:TYMP-MIR650 (FusionGDB2 ID:95002)

Fusion Gene Summary for TYMP-MIR650

check button Fusion gene summary
Fusion gene informationFusion gene name: TYMP-MIR650
Fusion gene ID: 95002
HgeneTgene
Gene symbol

TYMP

MIR650

Gene ID

9997

723778

Gene namesynthesis of cytochrome C oxidase 2microRNA 650
SynonymsCEMCOX1|ECGF1|Gliostatin|MYP6|PD-ECGF|SCO1L|TP|TYMP|TdRPaseMIRN650|hsa-mir-650
Cytomap

22q13.33

22q11.22

Type of geneprotein-codingncRNA
Descriptionprotein SCO2 homolog, mitochondrialPlatelet-derived endothelial cell growth factorSCO cytochrome c oxidase assembly protein 2SCO cytochrome oxidase deficient homolog 2SCO2, cytochrome c oxidase assembly proteinThymidine phosphorylase-
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000395680, ENST00000395681, 
ENST00000252029, ENST00000395678, 
ENST00000385101, 
Fusion gene scores* DoF score5 X 3 X 3=451 X 1 X 1=1
# samples 51
** MAII scorelog2(5/45*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: TYMP [Title/Abstract] AND MIR650 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTYMP(50967018)-MIR650(23165273), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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 TYMP (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 MIR650 (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
ChimerDB4STADTCGA-D7-8574-01ATYMPchr22

50967018

-MIR650chr22

23165273

+


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Fusion Gene ORF analysis for TYMP-MIR650

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
intron-3CDSENST00000395680ENST00000385101TYMPchr22

50967018

-MIR650chr22

23165273

+
intron-3CDSENST00000395681ENST00000385101TYMPchr22

50967018

-MIR650chr22

23165273

+
intron-3CDSENST00000252029ENST00000385101TYMPchr22

50967018

-MIR650chr22

23165273

+
intron-3CDSENST00000395678ENST00000385101TYMPchr22

50967018

-MIR650chr22

23165273

+

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

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Fusion Genomic Features for TYMP-MIR650


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)

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.

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Fusion Protein Features for TYMP-MIR650


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


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Fusion Gene Sequence for TYMP-MIR650


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.

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Fusion Gene PPI Analysis for TYMP-MIR650


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


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Related Drugs for TYMP-MIR650


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

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Related Diseases for TYMP-MIR650


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTYMPC4551995Mitochondrial DNA Depletion Syndrome 15CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneTYMPC0005684Malignant neoplasm of urinary bladder2CTD_human
HgeneTYMPC0005695Bladder Neoplasm2CTD_human
HgeneTYMPC0007097Carcinoma2CTD_human
HgeneTYMPC0009402Colorectal Carcinoma2CTD_human
HgeneTYMPC0009404Colorectal Neoplasms2CTD_human
HgeneTYMPC0205696Anaplastic carcinoma2CTD_human
HgeneTYMPC0205697Carcinoma, Spindle-Cell2CTD_human
HgeneTYMPC0205698Undifferentiated carcinoma2CTD_human
HgeneTYMPC0205699Carcinomatosis2CTD_human
HgeneTYMPC0872218MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME2GENOMICS_ENGLAND;ORPHANET
HgeneTYMPC1848586Visceral myopathy familial external ophthalmoplegia2CTD_human
HgeneTYMPC0007102Malignant tumor of colon1CTD_human
HgeneTYMPC0009375Colonic Neoplasms1CTD_human
HgeneTYMPC0024623Malignant neoplasm of stomach1CTD_human
HgeneTYMPC0027627Neoplasm Metastasis1CTD_human
HgeneTYMPC0030297Pancreatic Neoplasm1CTD_human
HgeneTYMPC0038356Stomach Neoplasms1CTD_human
HgeneTYMPC0270612Leukoencephalopathy1GENOMICS_ENGLAND
HgeneTYMPC0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneTYMPC0346647Malignant neoplasm of pancreas1CTD_human
HgeneTYMPC1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneTYMPC2749864MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)1GENOMICS_ENGLAND