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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:FHL1-ANXA2 (FusionGDB2 ID:30374)

Fusion Gene Summary for FHL1-ANXA2

check button Fusion gene summary
Fusion gene informationFusion gene name: FHL1-ANXA2
Fusion gene ID: 30374
HgeneTgene
Gene symbol

FHL1

ANXA2

Gene ID

3075

302

Gene namecomplement factor Hannexin A2
SynonymsAHUS1|AMBP1|ARMD4|ARMS1|CFHL3|FH|FHL1|HF|HF1|HF2|HUSANX2|ANX2L4|CAL1H|HEL-S-270|LIP2|LPC2|LPC2D|P36|PAP-IV
Cytomap

1q31.3

15q22.2

Type of geneprotein-codingprotein-coding
Descriptioncomplement factor HH factor 1 (complement)H factor 2 (complement)adrenomedullin binding proteinage-related maculopathy susceptibility 1beta-1-H-globulinbeta-1Hfactor Hfactor H-like 1annexin A2annexin IIannexin-2calpactin I heavy chaincalpactin I heavy polypeptidecalpactin-1 heavy chainchromobindin 8epididymis secretory protein Li 270epididymis secretory sperm binding proteinlipocortin IIplacental anticoagulant protein IVpr
Modification date2020032720200313
UniProtAcc

Q13642

A6NMY6

Ensembl transtripts involved in fusion geneENST00000345434, ENST00000370690, 
ENST00000394153, ENST00000394155, 
ENST00000535737, ENST00000543669, 
ENST00000370676, ENST00000370683, 
ENST00000477080, ENST00000539015, 
ENST00000332680, ENST00000396024, 
ENST00000421017, ENST00000451270, 
ENST00000557937, 
Fusion gene scores* DoF score6 X 4 X 3=7233 X 12 X 13=5148
# samples 639
** MAII scorelog2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(39/5148*10)=-3.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FHL1 [Title/Abstract] AND ANXA2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFHL1(135252139)-ANXA2(60656722), # 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
HgeneFHL1

GO:0006956

complement activation

24835392

HgeneFHL1

GO:0030449

regulation of complement activation

25284781

HgeneFHL1

GO:1903659

regulation of complement-dependent cytotoxicity

25284781

TgeneANXA2

GO:0001921

positive regulation of receptor recycling

22848640

TgeneANXA2

GO:0031340

positive regulation of vesicle fusion

2138016

TgeneANXA2

GO:0032804

negative regulation of low-density lipoprotein particle receptor catabolic process

22848640

TgeneANXA2

GO:0036035

osteoclast development

7961821

TgeneANXA2

GO:1905581

positive regulation of low-density lipoprotein particle clearance

22848640

TgeneANXA2

GO:1905597

positive regulation of low-density lipoprotein particle receptor binding

22848640

TgeneANXA2

GO:1905602

positive regulation of receptor-mediated endocytosis involved in cholesterol transport

22848640


check buttonFusion gene breakpoints across FHL1 (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 ANXA2 (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
ChimerDB4BRCATCGA-AR-A0TS-01AFHL1chrX

135252139

+ANXA2chr15

60656722

-


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Fusion Gene ORF analysis for FHL1-ANXA2

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
5UTR-3CDSENST00000345434ENST00000332680FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000345434ENST00000396024FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000345434ENST00000421017FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000345434ENST00000451270FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000370690ENST00000332680FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000370690ENST00000396024FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000370690ENST00000421017FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000370690ENST00000451270FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000394153ENST00000332680FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000394153ENST00000396024FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000394153ENST00000421017FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000394153ENST00000451270FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000394155ENST00000332680FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000394155ENST00000396024FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000394155ENST00000421017FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000394155ENST00000451270FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000535737ENST00000332680FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000535737ENST00000396024FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000535737ENST00000421017FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000535737ENST00000451270FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000543669ENST00000332680FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000543669ENST00000396024FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000543669ENST00000421017FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-3CDSENST00000543669ENST00000451270FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-5UTRENST00000345434ENST00000557937FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-5UTRENST00000370690ENST00000557937FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-5UTRENST00000394153ENST00000557937FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-5UTRENST00000394155ENST00000557937FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-5UTRENST00000535737ENST00000557937FHL1chrX

135252139

+ANXA2chr15

60656722

-
5UTR-5UTRENST00000543669ENST00000557937FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-3CDSENST00000370676ENST00000332680FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-3CDSENST00000370676ENST00000396024FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-3CDSENST00000370676ENST00000421017FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-3CDSENST00000370676ENST00000451270FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-3CDSENST00000370683ENST00000332680FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-3CDSENST00000370683ENST00000396024FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-3CDSENST00000370683ENST00000421017FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-3CDSENST00000370683ENST00000451270FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-3CDSENST00000477080ENST00000332680FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-3CDSENST00000477080ENST00000396024FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-3CDSENST00000477080ENST00000421017FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-3CDSENST00000477080ENST00000451270FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-3CDSENST00000539015ENST00000332680FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-3CDSENST00000539015ENST00000396024FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-3CDSENST00000539015ENST00000421017FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-3CDSENST00000539015ENST00000451270FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-5UTRENST00000370676ENST00000557937FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-5UTRENST00000370683ENST00000557937FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-5UTRENST00000477080ENST00000557937FHL1chrX

135252139

+ANXA2chr15

60656722

-
intron-5UTRENST00000539015ENST00000557937FHL1chrX

135252139

+ANXA2chr15

60656722

-

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 FHL1-ANXA2


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 FHL1-ANXA2


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/:135252139/:60656722)
- 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
FHL1

Q13642

ANXA2

A6NMY6

FUNCTION: May have an involvement in muscle development or hypertrophy.FUNCTION: Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids. It binds two calcium ions with high affinity. May be involved in heat-stress response. {ECO:0000250}.

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 FHL1-ANXA2


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 FHL1-ANXA2


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 FHL1-ANXA2


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 FHL1-ANXA2


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