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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:ABCG1-MEI1 (FusionGDB2 ID:358)

Fusion Gene Summary for ABCG1-MEI1

check button Fusion gene summary
Fusion gene informationFusion gene name: ABCG1-MEI1
Fusion gene ID: 358
HgeneTgene
Gene symbol

ABCG1

MEI1

Gene ID

9619

150365

Gene nameATP binding cassette subfamily G member 1meiotic double-stranded break formation protein 1
SynonymsABC8|WHITE1HYDM3|SPATA38
Cytomap

21q22.3

22q13.2

Type of geneprotein-codingprotein-coding
DescriptionATP-binding cassette sub-family G member 1ABC transporter 8ATP-binding cassette transporter 8ATP-binding cassette transporter member 1 of subfamily GATP-binding cassette, sub-family G (WHITE), member 1homolog of Drosophila whitewhite protein homologmeiosis inhibitor protein 1meiosis defective 1meiosis defective protein 1meiosis inhibitor 1spermatogenesis associated 38
Modification date2020032920200313
UniProtAcc

P45844

Q5TIA1

Ensembl transtripts involved in fusion geneENST00000462050, ENST00000340588, 
ENST00000343687, ENST00000347800, 
ENST00000361802, ENST00000398437, 
ENST00000398449, ENST00000398457, 
ENST00000401548, ENST00000476893, 
ENST00000300398, ENST00000400107, 
ENST00000540833, ENST00000540880, 
Fusion gene scores* DoF score8 X 7 X 4=2248 X 8 X 6=384
# samples 78
** MAII scorelog2(7/224*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/384*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABCG1 [Title/Abstract] AND MEI1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABCG1(43714770)-MEI1(42195258), # samples:3
Anticipated loss of major functional domain due to fusion event.ABCG1-MEI1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ABCG1-MEI1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target 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
HgeneABCG1

GO:0008203

cholesterol metabolic process

15994327

HgeneABCG1

GO:0033344

cholesterol efflux

15994327

HgeneABCG1

GO:0033993

response to lipid

16556852

HgeneABCG1

GO:0034436

glycoprotein transport

17293612

HgeneABCG1

GO:0042632

cholesterol homeostasis

15994327

HgeneABCG1

GO:0042987

amyloid precursor protein catabolic process

17293612

HgeneABCG1

GO:0050714

positive regulation of protein secretion

17293612

HgeneABCG1

GO:1902004

positive regulation of amyloid-beta formation

17293612


check buttonFusion gene breakpoints across ABCG1 (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 MEI1 (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
ChimerDB4LUSCTCGA-43-5670-01AABCG1chr21

43714770

-MEI1chr22

42195258

+
ChimerDB4LUSCTCGA-43-5670-01AABCG1chr21

43714770

+MEI1chr22

42195258

+
ChimerDB4LUSCTCGA-43-5670ABCG1chr21

43714770

+MEI1chr22

42195258

+


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Fusion Gene ORF analysis for ABCG1-MEI1

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
3UTR-3CDSENST00000462050ENST00000401548ABCG1chr21

43714770

+MEI1chr22

42195258

+
3UTR-3UTRENST00000462050ENST00000476893ABCG1chr21

43714770

+MEI1chr22

42195258

+
3UTR-intronENST00000462050ENST00000300398ABCG1chr21

43714770

+MEI1chr22

42195258

+
3UTR-intronENST00000462050ENST00000400107ABCG1chr21

43714770

+MEI1chr22

42195258

+
3UTR-intronENST00000462050ENST00000540833ABCG1chr21

43714770

+MEI1chr22

42195258

+
3UTR-intronENST00000462050ENST00000540880ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-3UTRENST00000340588ENST00000476893ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-3UTRENST00000343687ENST00000476893ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-3UTRENST00000347800ENST00000476893ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-3UTRENST00000361802ENST00000476893ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-3UTRENST00000398437ENST00000476893ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-3UTRENST00000398449ENST00000476893ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-3UTRENST00000398457ENST00000476893ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000340588ENST00000300398ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000340588ENST00000400107ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000340588ENST00000540833ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000340588ENST00000540880ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000343687ENST00000300398ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000343687ENST00000400107ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000343687ENST00000540833ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000343687ENST00000540880ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000347800ENST00000300398ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000347800ENST00000400107ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000347800ENST00000540833ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000347800ENST00000540880ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000361802ENST00000300398ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000361802ENST00000400107ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000361802ENST00000540833ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000361802ENST00000540880ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000398437ENST00000300398ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000398437ENST00000400107ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000398437ENST00000540833ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000398437ENST00000540880ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000398449ENST00000300398ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000398449ENST00000400107ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000398449ENST00000540833ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000398449ENST00000540880ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000398457ENST00000300398ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000398457ENST00000400107ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000398457ENST00000540833ABCG1chr21

43714770

+MEI1chr22

42195258

+
5CDS-intronENST00000398457ENST00000540880ABCG1chr21

43714770

+MEI1chr22

42195258

+
Frame-shiftENST00000340588ENST00000401548ABCG1chr21

43714770

+MEI1chr22

42195258

+
Frame-shiftENST00000343687ENST00000401548ABCG1chr21

43714770

+MEI1chr22

42195258

+
Frame-shiftENST00000347800ENST00000401548ABCG1chr21

43714770

+MEI1chr22

42195258

+
Frame-shiftENST00000361802ENST00000401548ABCG1chr21

43714770

+MEI1chr22

42195258

+
Frame-shiftENST00000398437ENST00000401548ABCG1chr21

43714770

+MEI1chr22

42195258

+
Frame-shiftENST00000398449ENST00000401548ABCG1chr21

43714770

+MEI1chr22

42195258

+
Frame-shiftENST00000398457ENST00000401548ABCG1chr21

43714770

+MEI1chr22

42195258

+

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 ABCG1-MEI1


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)
ABCG1chr2143714770+MEI1chr2242195257+2.99E-060.999997
ABCG1chr2143714770+MEI1chr2242195257+2.99E-060.999997
ABCG1chr2143714770+MEI1chr2242195257+2.99E-060.999997
ABCG1chr2143714770+MEI1chr2242195257+2.99E-060.999997

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.
genomic feature of top 1%

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Fusion Protein Features for ABCG1-MEI1


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/:43714770/:42195258)
- 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
ABCG1

P45844

MEI1

Q5TIA1

FUNCTION: Catalyzes the efflux of phospholipids such as sphingomyelin, cholesterol and its oxygenated derivatives like 7beta-hydroxycholesterol and this transport is coupled to hydrlysis of ATP (PubMed:17408620, PubMed:24576892). The lipid efflux is ALB-dependent (PubMed:16702602). Is an active component of the macrophage lipid export complex. Could also be involved in intracellular lipid transport processes. The role in cellular lipid homeostasis may not be limited to macrophages. Prevents cell death by transporting cytotoxic 7beta-hydroxycholesterol (PubMed:17408620). {ECO:0000269|PubMed:16702602, ECO:0000269|PubMed:17408620, ECO:0000269|PubMed:24576892}.FUNCTION: Required for normal meiotic chromosome synapsis. May be involved in the formation of meiotic double-strand breaks (DSBs) in spermatocytes (By similarity). {ECO:0000250|UniProtKB:Q9D4I2}.

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 ABCG1-MEI1


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 ABCG1-MEI1


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 ABCG1-MEI1


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 ABCG1-MEI1


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