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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:ALB-EXOSC9 (FusionGDB2 ID:3750)

Fusion Gene Summary for ALB-EXOSC9

check button Fusion gene summary
Fusion gene informationFusion gene name: ALB-EXOSC9
Fusion gene ID: 3750
HgeneTgene
Gene symbol

ALB

EXOSC9

Gene ID

213

5393

Gene namealbuminexosome component 9
SynonymsHSA|PRO0883|PRO0903|PRO1341PCH1D|PM/Scl-75|PMSCL1|RRP45|Rrp45p|p5|p6
Cytomap

4q13.3

4q27

Type of geneprotein-codingprotein-coding
Descriptionserum albuminexosome complex component RRP45P75 polymyositis-scleroderma overlap syndrome associated autoantigenPMSCL autoantigen, 75kDautoantigen PM/Scl 1exosome complex exonuclease RRP45polymyositis/scleroderma autoantigen 1, 75kDa
Modification date2020032920200320
UniProtAcc

P02768

Q06265

Ensembl transtripts involved in fusion geneENST00000295897, ENST00000401494, 
ENST00000415165, ENST00000509063, 
ENST00000503124, ENST00000505649, 
ENST00000379663, ENST00000509980, 
ENST00000512454, ENST00000243498, 
Fusion gene scores* DoF score66 X 51 X 5=168308 X 8 X 4=256
# samples 748
** MAII scorelog2(74/16830*10)=-4.507366095701
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/256*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALB [Title/Abstract] AND EXOSC9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointALB(74270123)-EXOSC9(122737927), # samples:4
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
HgeneALB

GO:0009267

cellular response to starvation

16245148

HgeneALB

GO:0043066

negative regulation of apoptotic process

16153637

HgeneALB

GO:0051659

maintenance of mitochondrion location

16153637


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

check buttonFusion gene breakpoints across EXOSC9 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4KIRPTCGA-SX-A7SS-01AALBchr4

74270123

-EXOSC9chr4

122737927

+
ChimerDB4KIRPTCGA-SX-A7SSALBchr4

74270123

+EXOSC9chr4

122737927

+
ChimerDB4LIHCTCGA-XR-A8TG-01AALBchr4

74270123

-EXOSC9chr4

122737927

+
ChimerDB4LIHCTCGA-XR-A8TG-01AALBchr4

74270123

+EXOSC9chr4

122737927

+


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Fusion Gene ORF analysis for ALB-EXOSC9

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
5CDS-intronENST00000295897ENST00000379663ALBchr4

74270123

+EXOSC9chr4

122737927

+
5CDS-intronENST00000295897ENST00000509980ALBchr4

74270123

+EXOSC9chr4

122737927

+
5CDS-intronENST00000295897ENST00000512454ALBchr4

74270123

+EXOSC9chr4

122737927

+
5CDS-intronENST00000401494ENST00000379663ALBchr4

74270123

+EXOSC9chr4

122737927

+
5CDS-intronENST00000401494ENST00000509980ALBchr4

74270123

+EXOSC9chr4

122737927

+
5CDS-intronENST00000401494ENST00000512454ALBchr4

74270123

+EXOSC9chr4

122737927

+
5CDS-intronENST00000415165ENST00000379663ALBchr4

74270123

+EXOSC9chr4

122737927

+
5CDS-intronENST00000415165ENST00000509980ALBchr4

74270123

+EXOSC9chr4

122737927

+
5CDS-intronENST00000415165ENST00000512454ALBchr4

74270123

+EXOSC9chr4

122737927

+
5CDS-intronENST00000509063ENST00000379663ALBchr4

74270123

+EXOSC9chr4

122737927

+
5CDS-intronENST00000509063ENST00000509980ALBchr4

74270123

+EXOSC9chr4

122737927

+
5CDS-intronENST00000509063ENST00000512454ALBchr4

74270123

+EXOSC9chr4

122737927

+
5UTR-3CDSENST00000503124ENST00000243498ALBchr4

74270123

+EXOSC9chr4

122737927

+
5UTR-intronENST00000503124ENST00000379663ALBchr4

74270123

+EXOSC9chr4

122737927

+
5UTR-intronENST00000503124ENST00000509980ALBchr4

74270123

+EXOSC9chr4

122737927

+
5UTR-intronENST00000503124ENST00000512454ALBchr4

74270123

+EXOSC9chr4

122737927

+
In-frameENST00000295897ENST00000243498ALBchr4

74270123

+EXOSC9chr4

122737927

+
In-frameENST00000401494ENST00000243498ALBchr4

74270123

+EXOSC9chr4

122737927

+
In-frameENST00000415165ENST00000243498ALBchr4

74270123

+EXOSC9chr4

122737927

+
In-frameENST00000509063ENST00000243498ALBchr4

74270123

+EXOSC9chr4

122737927

+
intron-3CDSENST00000505649ENST00000243498ALBchr4

74270123

+EXOSC9chr4

122737927

+
intron-intronENST00000505649ENST00000379663ALBchr4

74270123

+EXOSC9chr4

122737927

+
intron-intronENST00000505649ENST00000509980ALBchr4

74270123

+EXOSC9chr4

122737927

+
intron-intronENST00000505649ENST00000512454ALBchr4

74270123

+EXOSC9chr4

122737927

+

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)
ENST00000295897ALBchr474270123+ENST00000243498EXOSC9chr4122737927+3061686222052
ENST00000415165ALBchr474270123+ENST00000243498EXOSC9chr4122737927+2581201417252
ENST00000509063ALBchr474270123+ENST00000243498EXOSC9chr4122737927+241103152051
ENST00000401494ALBchr474270123+ENST00000243498EXOSC9chr4122737927+23799148249

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
ENST00000295897ENST00000243498ALBchr474270123+EXOSC9chr4122737927+0.921293260.078706734
ENST00000415165ENST00000243498ALBchr474270123+EXOSC9chr4122737927+0.9521570.047842976
ENST00000509063ENST00000243498ALBchr474270123+EXOSC9chr4122737927+0.953880250.04611975
ENST00000401494ENST00000243498ALBchr474270123+EXOSC9chr4122737927+0.96027250.039727494

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Fusion Genomic Features for ALB-EXOSC9


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)
ALBchr474270123+EXOSC9chr4122737926+6.05E-050.99993956
ALBchr474270123+EXOSC9chr4122737926+6.05E-050.99993956

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.
genomic feature

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.
genomic feature of top 1%

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Fusion Protein Features for ALB-EXOSC9


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr4:74270123/chr4:122737927)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ALB

P02768

EXOSC9

Q06265

FUNCTION: Binds water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs (Probable). Its main function is the regulation of the colloidal osmotic pressure of blood (Probable). Major zinc transporter in plasma, typically binds about 80% of all plasma zinc (PubMed:19021548). Major calcium and magnesium transporter in plasma, binds approximately 45% of circulating calcium and magnesium in plasma (By similarity). Potentially has more than two calcium-binding sites and might additionally bind calcium in a non-specific manner (By similarity). The shared binding site between zinc and calcium at residue Asp-273 suggests a crosstalk between zinc and calcium transport in the blood (By similarity). The rank order of affinity is zinc > calcium > magnesium (By similarity). Binds to the bacterial siderophore enterobactin and inhibits enterobactin-mediated iron uptake of E.coli from ferric transferrin, and may thereby limit the utilization of iron and growth of enteric bacteria such as E.coli (PubMed:6234017). Does not prevent iron uptake by the bacterial siderophore aerobactin (PubMed:6234017). {ECO:0000250|UniProtKB:P02769, ECO:0000269|PubMed:19021548, ECO:0000269|PubMed:6234017, ECO:0000305|PubMed:1630489}.FUNCTION: Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC9 binds to ARE-containing RNAs. {ECO:0000269|PubMed:11782436, ECO:0000269|PubMed:16455498, ECO:0000269|PubMed:16912217, ECO:0000269|PubMed:17545563}.

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
HgeneALBchr4:74270123chr4:122737927ENST00000295897+11519_21026661.0DomainAlbumin 1
HgeneALBchr4:74270123chr4:122737927ENST00000295897+115211_40326661.0DomainAlbumin 2
HgeneALBchr4:74270123chr4:122737927ENST00000295897+115404_60126661.0DomainAlbumin 3
HgeneALBchr4:74270123chr4:122737927ENST00000509063+11419_21026605.0DomainAlbumin 1
HgeneALBchr4:74270123chr4:122737927ENST00000509063+114211_40326605.0DomainAlbumin 2
HgeneALBchr4:74270123chr4:122737927ENST00000509063+114404_60126605.0DomainAlbumin 3
TgeneEXOSC9chr4:74270123chr4:122737927ENST0000024349810121_268411440.0RegionARE binding
TgeneEXOSC9chr4:74270123chr4:122737927ENST0000037966311131_268428457.0RegionARE binding


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Fusion Gene Sequence for ALB-EXOSC9


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.
>3750_3750_1_ALB-EXOSC9_ALB_chr4_74270123_ENST00000295897_EXOSC9_chr4_122737927_ENST00000243498_length(transcript)=306nt_BP=168nt
AATTATTGGTTAAAGAAGTATATTAGTGCTAATTTCCCTCCGTTTGTCCTAGCTTTTCTCTTCTGTCAACCCCACACGCCTTTGGCACAA
TGAAGTGGGTAACCTTTATTTCCCTTCTTTTTCTCTTTAGCTCGGCTTATTCCAGGGGTGTGTTTCGTCGAGATGCACAACACAGACCAC
CAGTGCAAAACAAGAAAAAGCACCAAGTAAAAAGCCAGTGAAAAGAAGAAAAAAGAAGAGAGCTGCCAATTAAAGCTAACAGTTGTATAT

>3750_3750_1_ALB-EXOSC9_ALB_chr4_74270123_ENST00000295897_EXOSC9_chr4_122737927_ENST00000243498_length(amino acids)=52AA_BP=36

--------------------------------------------------------------
>3750_3750_2_ALB-EXOSC9_ALB_chr4_74270123_ENST00000401494_EXOSC9_chr4_122737927_ENST00000243498_length(transcript)=237nt_BP=99nt
CCCCACACGCCTTTGGCACAATGAAGTGGGTAACCTTTATTTCCCTTCTTTTTCTCTTTAGCTCGGCTTATTCCAGGGGTGTGTTTCGTC
GAGATGCACAACACAGACCACCAGTGCAAAACAAGAAAAAGCACCAAGTAAAAAGCCAGTGAAAAGAAGAAAAAAGAAGAGAGCTGCCAA

>3750_3750_2_ALB-EXOSC9_ALB_chr4_74270123_ENST00000401494_EXOSC9_chr4_122737927_ENST00000243498_length(amino acids)=49AA_BP=1

--------------------------------------------------------------
>3750_3750_3_ALB-EXOSC9_ALB_chr4_74270123_ENST00000415165_EXOSC9_chr4_122737927_ENST00000243498_length(transcript)=258nt_BP=120nt
CTAGCTTTTCTCTTCTGTCAACCCCACACGCCTTTGGCACAATGAAGTGGGTAACCTTTATTTCCCTTCTTTTTCTCTTTAGCTCGGCTT
ATTCCAGGGGTGTGTTTCGTCGAGATGCACAACACAGACCACCAGTGCAAAACAAGAAAAAGCACCAAGTAAAAAGCCAGTGAAAAGAAG

>3750_3750_3_ALB-EXOSC9_ALB_chr4_74270123_ENST00000415165_EXOSC9_chr4_122737927_ENST00000243498_length(amino acids)=52AA_BP=36

--------------------------------------------------------------
>3750_3750_4_ALB-EXOSC9_ALB_chr4_74270123_ENST00000509063_EXOSC9_chr4_122737927_ENST00000243498_length(transcript)=241nt_BP=103nt
TCAACCCCACACGCCTTTGGCACAATGAAGTGGGTAACCTTTATTTCCCTTCTTTTTCTCTTTAGCTCGGCTTATTCCAGGGGTGTGTTT
CGTCGAGATGCACAACACAGACCACCAGTGCAAAACAAGAAAAAGCACCAAGTAAAAAGCCAGTGAAAAGAAGAAAAAAGAAGAGAGCTG

>3750_3750_4_ALB-EXOSC9_ALB_chr4_74270123_ENST00000509063_EXOSC9_chr4_122737927_ENST00000243498_length(amino acids)=51AA_BP=1

--------------------------------------------------------------

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Fusion Gene PPI Analysis for ALB-EXOSC9


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 ALB-EXOSC9


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 ALB-EXOSC9


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