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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:AMD1-C8orf59 (FusionGDB2 ID:4296)

Fusion Gene Summary for AMD1-C8orf59

check button Fusion gene summary
Fusion gene informationFusion gene name: AMD1-C8orf59
Fusion gene ID: 4296
HgeneTgene
Gene symbol

AMD1

C8orf59

Gene ID

262

401466

Gene nameadenosylmethionine decarboxylase 1ribosomal biogenesis factor
SynonymsADOMETDC|AMD|SAMDCC8orf59
Cytomap

6q21

8q21.2

Type of geneprotein-codingprotein-coding
DescriptionS-adenosylmethionine decarboxylase proenzymeS-adenosylmethionine decarboxylase 1ribosomal biogenesis factorribosome biogenesis factor identified in screenuncharacterized protein C8orf59
Modification date2020031320200313
UniProtAcc

P17707

.
Ensembl transtripts involved in fusion geneENST00000368882, ENST00000368885, 
ENST00000451850, ENST00000368877, 
ENST00000368876, 		ENST00000417663, 
ENST00000431163, ENST00000421308, 
ENST00000524353, ENST00000518562, 
ENST00000518091, ENST00000458398, 
ENST00000321777, ENST00000545322, 
Fusion gene scores* DoF score15 X 13 X 4=7803 X 3 X 1=9
# samples 153
** MAII scorelog2(15/780*10)=-2.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AMD1 [Title/Abstract] AND C8orf59 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAMD1(111185481)-C8orf59(86129709), # 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 AMD1 (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 C8orf59 (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
ChiTaRS5.0N/ABE770713AMD1chr6

111185481

+C8orf59chr8

86129709

-


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Fusion Gene ORF analysis for AMD1-C8orf59

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-3CDSENST00000368882ENST00000417663AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368882ENST00000431163AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368882ENST00000421308AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368882ENST00000524353AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368882ENST00000518562AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368882ENST00000518091AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368882ENST00000458398AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368882ENST00000321777AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368882ENST00000545322AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368885ENST00000417663AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368885ENST00000431163AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368885ENST00000421308AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368885ENST00000524353AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368885ENST00000518562AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368885ENST00000518091AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368885ENST00000458398AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368885ENST00000321777AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368885ENST00000545322AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000451850ENST00000417663AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000451850ENST00000431163AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000451850ENST00000421308AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000451850ENST00000524353AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000451850ENST00000518562AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000451850ENST00000518091AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000451850ENST00000458398AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000451850ENST00000321777AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000451850ENST00000545322AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368877ENST00000417663AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368877ENST00000431163AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368877ENST00000421308AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368877ENST00000524353AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368877ENST00000518562AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368877ENST00000518091AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368877ENST00000458398AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368877ENST00000321777AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368877ENST00000545322AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368876ENST00000417663AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368876ENST00000431163AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368876ENST00000421308AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368876ENST00000524353AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368876ENST00000518562AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368876ENST00000518091AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368876ENST00000458398AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368876ENST00000321777AMD1chr6

111185481

+C8orf59chr8

86129709

-
intron-3CDSENST00000368876ENST00000545322AMD1chr6

111185481

+C8orf59chr8

86129709

-

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 AMD1-C8orf59


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 AMD1-C8orf59


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
AMD1

P17707

.
FUNCTION: Essential for biosynthesis of the polyamines spermidine and spermine. Promotes maintenance and self-renewal of embryonic stem cells, by maintaining spermine levels. {ECO:0000250|UniProtKB:P0DMN7}.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 AMD1-C8orf59


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 AMD1-C8orf59


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 AMD1-C8orf59


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneAMD1P17707DB00118AdemetionineCofactorSmall moleculeApproved|Investigational|Nutraceutical
HgeneAMD1P17707DB00118AdemetionineCofactorSmall moleculeApproved|Investigational|Nutraceutical

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Related Diseases for AMD1-C8orf59


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource