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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:ANXA2-TPM1 (FusionGDB2 ID:5151)

Fusion Gene Summary for ANXA2-TPM1

check button Fusion gene summary
Fusion gene informationFusion gene name: ANXA2-TPM1
Fusion gene ID: 5151
HgeneTgene
Gene symbol

ANXA2

TPM1

Gene ID

302

7168

Gene nameannexin A2tropomyosin 1
SynonymsANX2|ANX2L4|CAL1H|HEL-S-270|LIP2|LPC2|LPC2D|P36|PAP-IVC15orf13|CMD1Y|CMH3|HEL-S-265|HTM-alpha|LVNC9|TMSA
Cytomap

15q22.2

15q22.2

Type of geneprotein-codingprotein-coding
Descriptionannexin A2annexin IIannexin-2calpactin I heavy chaincalpactin I heavy polypeptidecalpactin-1 heavy chainchromobindin 8epididymis secretory protein Li 270epididymis secretory sperm binding proteinlipocortin IIplacental anticoagulant protein IVprtropomyosin alpha-1 chaincardiomyopathy, hypertrophic 3epididymis secretory protein Li 265sarcomeric tropomyosin kappa
Modification date2020031320200320
UniProtAcc

P07355

.
Ensembl transtripts involved in fusion geneENST00000396024, ENST00000451270, 
ENST00000332680, ENST00000421017, 
ENST00000557937, 		ENST00000288398, 
ENST00000358278, ENST00000560445, 
ENST00000403994, ENST00000357980, 
ENST00000559556, ENST00000559397, 
ENST00000267996, ENST00000334895, 
ENST00000404484, ENST00000560959, 
ENST00000559281, ENST00000317516, 
Fusion gene scores* DoF score22 X 20 X 7=308014 X 8 X 8=896
# samples 2316
** MAII scorelog2(23/3080*10)=-3.74322458463789
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/896*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANXA2 [Title/Abstract] AND TPM1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANXA2(60690141)-TPM1(63349183), # samples:2
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
HgeneANXA2

GO:0001921

positive regulation of receptor recycling

22848640

HgeneANXA2

GO:0031340

positive regulation of vesicle fusion

2138016

HgeneANXA2

GO:0032804

negative regulation of low-density lipoprotein particle receptor catabolic process

22848640

HgeneANXA2

GO:0036035

osteoclast development

7961821

HgeneANXA2

GO:1905581

positive regulation of low-density lipoprotein particle clearance

22848640

HgeneANXA2

GO:1905597

positive regulation of low-density lipoprotein particle receptor binding

22848640

HgeneANXA2

GO:1905602

positive regulation of receptor-mediated endocytosis involved in cholesterol transport

22848640


check buttonFusion gene breakpoints across ANXA2 (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 TPM1 (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
ChimerDB4ESCATCGA-L5-A4OJANXA2chr15

60690141

-TPM1chr15

63349183

+
ChimerDB4ESCATCGA-L5-A4OJANXA2chr15

60690141

-TPM1chr15

63349183

+


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Fusion Gene ORF analysis for ANXA2-TPM1

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-3CDSENST00000396024ENST00000288398ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-3CDSENST00000396024ENST00000358278ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000396024ENST00000560445ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000396024ENST00000403994ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000396024ENST00000357980ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000396024ENST00000559556ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000396024ENST00000559397ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000396024ENST00000267996ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000396024ENST00000334895ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000396024ENST00000404484ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000396024ENST00000560959ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000396024ENST00000559281ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000396024ENST00000317516ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-3CDSENST00000451270ENST00000288398ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-3CDSENST00000451270ENST00000358278ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000451270ENST00000560445ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000451270ENST00000403994ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000451270ENST00000357980ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000451270ENST00000559556ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000451270ENST00000559397ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000451270ENST00000267996ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000451270ENST00000334895ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000451270ENST00000404484ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000451270ENST00000560959ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000451270ENST00000559281ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000451270ENST00000317516ANXA2chr15

60690141

-TPM1chr15

63349183

+
intron-3CDSENST00000332680ENST00000288398ANXA2chr15

60690141

-TPM1chr15

63349183

+
intron-3CDSENST00000332680ENST00000358278ANXA2chr15

60690141

-TPM1chr15

63349183

+
intron-intronENST00000332680ENST00000560445ANXA2chr15

60690141

-TPM1chr15

63349183

+
intron-intronENST00000332680ENST00000403994ANXA2chr15

60690141

-TPM1chr15

63349183

+
intron-intronENST00000332680ENST00000357980ANXA2chr15

60690141

-TPM1chr15

63349183

+
intron-intronENST00000332680ENST00000559556ANXA2chr15

60690141

-TPM1chr15

63349183

+
intron-intronENST00000332680ENST00000559397ANXA2chr15

60690141

-TPM1chr15

63349183

+
intron-intronENST00000332680ENST00000267996ANXA2chr15

60690141

-TPM1chr15

63349183

+
intron-intronENST00000332680ENST00000334895ANXA2chr15

60690141

-TPM1chr15

63349183

+
intron-intronENST00000332680ENST00000404484ANXA2chr15

60690141

-TPM1chr15

63349183

+
intron-intronENST00000332680ENST00000560959ANXA2chr15

60690141

-TPM1chr15

63349183

+
intron-intronENST00000332680ENST00000559281ANXA2chr15

60690141

-TPM1chr15

63349183

+
intron-intronENST00000332680ENST00000317516ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-3CDSENST00000421017ENST00000288398ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-3CDSENST00000421017ENST00000358278ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000421017ENST00000560445ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000421017ENST00000403994ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000421017ENST00000357980ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000421017ENST00000559556ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000421017ENST00000559397ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000421017ENST00000267996ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000421017ENST00000334895ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000421017ENST00000404484ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000421017ENST00000560959ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000421017ENST00000559281ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000421017ENST00000317516ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-3CDSENST00000557937ENST00000288398ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-3CDSENST00000557937ENST00000358278ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000557937ENST00000560445ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000557937ENST00000403994ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000557937ENST00000357980ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000557937ENST00000559556ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000557937ENST00000559397ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000557937ENST00000267996ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000557937ENST00000334895ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000557937ENST00000404484ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000557937ENST00000560959ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000557937ENST00000559281ANXA2chr15

60690141

-TPM1chr15

63349183

+
5UTR-intronENST00000557937ENST00000317516ANXA2chr15

60690141

-TPM1chr15

63349183

+

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 ANXA2-TPM1


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)
ANXA2chr1560690141-TPM1chr1563349183+1.40E-070.9999999
ANXA2chr1560690141-TPM1chr1563349183+1.40E-070.9999999

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 ANXA2-TPM1


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
ANXA2

P07355

.
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. Inhibits PCSK9-enhanced LDLR degradation, probably reduces PCSK9 protein levels via a translational mechanism but also competes with LDLR for binding with PCSK9 (PubMed:18799458, PubMed:24808179, PubMed:22848640). {ECO:0000269|PubMed:18799458, ECO:0000269|PubMed:22848640, ECO:0000269|PubMed:24808179}.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 ANXA2-TPM1


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 ANXA2-TPM1


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 ANXA2-TPM1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneANXA2P07355DB00031TenecteplaseBiotechApproved
HgeneANXA2P07355DB00031TenecteplaseBiotechApproved
HgeneANXA2P07355DB00031TenecteplaseBiotechApproved
HgeneANXA2P07355DB00031TenecteplaseBiotechApproved
HgeneANXA2P07355DB00031TenecteplaseBiotechApproved
HgeneANXA2P07355DB00591Fluocinolone acetonideInducerSmall moleculeApproved|Investigational|Vet_approved
HgeneANXA2P07355DB00591Fluocinolone acetonideInducerSmall moleculeApproved|Investigational|Vet_approved
HgeneANXA2P07355DB00591Fluocinolone acetonideInducerSmall moleculeApproved|Investigational|Vet_approved
HgeneANXA2P07355DB00591Fluocinolone acetonideInducerSmall moleculeApproved|Investigational|Vet_approved
HgeneANXA2P07355DB00591Fluocinolone acetonideInducerSmall moleculeApproved|Investigational|Vet_approved

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Related Diseases for ANXA2-TPM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneANXA2C0001787Osteoporosis, Age-Related1CTD_human
HgeneANXA2C0007137Squamous cell carcinoma1CTD_human
HgeneANXA2C0019193Hepatitis, Toxic1CTD_human
HgeneANXA2C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneANXA2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneANXA2C0023903Liver neoplasms1CTD_human
HgeneANXA2C0024121Lung Neoplasms1CTD_human
HgeneANXA2C0024667Animal Mammary Neoplasms1CTD_human
HgeneANXA2C0026640Mouth Neoplasms1CTD_human
HgeneANXA2C0026998Acute Myeloid Leukemia, M11CTD_human
HgeneANXA2C0027626Neoplasm Invasiveness1CTD_human
HgeneANXA2C0029456Osteoporosis1CTD_human
HgeneANXA2C0029459Osteoporosis, Senile1CTD_human
HgeneANXA2C0043094Weight Gain1CTD_human
HgeneANXA2C0153381Malignant neoplasm of mouth1CTD_human
HgeneANXA2C0242379Malignant neoplasm of lung1CTD_human
HgeneANXA2C0345904Malignant neoplasm of liver1CTD_human
HgeneANXA2C0345967Malignant mesothelioma1CTD_human
HgeneANXA2C0751406Post-Traumatic Osteoporosis1CTD_human
HgeneANXA2C0860207Drug-Induced Liver Disease1CTD_human
HgeneANXA2C1257925Mammary Carcinoma, Animal1CTD_human
HgeneANXA2C1262760Hepatitis, Drug-Induced1CTD_human
HgeneANXA2C1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
HgeneANXA2C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneANXA2C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneANXA2C4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneTPM1C0007194Hypertrophic Cardiomyopathy18CLINGEN
TgeneTPM1C1861863CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)9CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneTPM1C2678476Cardiomyopathy, Dilated, 1y5CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneTPM1C0014859Esophageal Neoplasms1CTD_human
TgeneTPM1C0020538Hypertensive disease1CTD_human
TgeneTPM1C0022548Keloid1CTD_human
TgeneTPM1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneTPM1C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneTPM1C0340427Familial dilated cardiomyopathy1ORPHANET
TgeneTPM1C0546837Malignant neoplasm of esophagus1CTD_human
TgeneTPM1C0597124Obstructive asymmetric septal hypertrophy1CTD_human
TgeneTPM1C0700053Idiopathic hypertrophic subaortic stenosis1CTD_human
TgeneTPM1C0949658Cardiomyopathy, Hypertrophic, Familial1CTD_human
TgeneTPM1C1960469Left ventricular noncompaction1ORPHANET