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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-KRT6A (FusionGDB2 ID:HG302TG3853)

Fusion Gene Summary for ANXA2-KRT6A

check button Fusion gene summary
Fusion gene informationFusion gene name: ANXA2-KRT6A
Fusion gene ID: hg302tg3853
HgeneTgene
Gene symbol

ANXA2

KRT6A

Gene ID

302

3853

Gene nameannexin A2keratin 6A
SynonymsANX2|ANX2L4|CAL1H|HEL-S-270|LIP2|LPC2|LPC2D|P36|PAP-IVCK-6C|CK-6E|CK6A|CK6C|CK6D|K6A|K6C|K6D|KRT6C|KRT6D|PC3
Cytomap('ANXA2')('KRT6A')

15q22.2

12q13.13

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 IVprkeratin, type II cytoskeletal 6Acytokeratin 6Acytokeratin 6Ccytokeratin 6Dkeratin 6A, , type IIkeratin 6A, type IIkeratin, epidermal type II, K6Atype-II keratin Kb6
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000557937, ENST00000332680, 
ENST00000396024, ENST00000421017, 
ENST00000451270, 
Fusion gene scores* DoF score22 X 20 X 7=308019 X 23 X 5=2185
# samples 2324
** MAII scorelog2(23/3080*10)=-3.74322458463789
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(24/2185*10)=-3.18652696877944
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANXA2 [Title/Abstract] AND KRT6A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANXA2(60674541)-KRT6A(52884737), # samples:1
Anticipated loss of major functional domain due to fusion event.ANXA2-KRT6A seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
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

TgeneKRT6A

GO:0001899

negative regulation of cytolysis by symbiont of host cells

23006328

TgeneKRT6A

GO:0050830

defense response to Gram-positive bacterium

23006328

TgeneKRT6A

GO:0051838

cytolysis by host of symbiont cells

23006328

TgeneKRT6A

GO:0061844

antimicrobial humoral immune response mediated by antimicrobial peptide

23006328

TgeneKRT6A

GO:2000536

negative regulation of entry of bacterium into host cell

23006328



check button Fusion gene information
* 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
ChimerDB4HNSCTCGA-CQ-6220ANXA2chr15

60674541

-KRT6Achr12

52884737

-


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Fusion Gene ORF analysis for ANXA2-KRT6A

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-3CDSENST00000557937ENST00000330722ANXA2chr15

60674541

-KRT6Achr12

52884737

-
Frame-shiftENST00000332680ENST00000330722ANXA2chr15

60674541

-KRT6Achr12

52884737

-
Frame-shiftENST00000396024ENST00000330722ANXA2chr15

60674541

-KRT6Achr12

52884737

-
Frame-shiftENST00000421017ENST00000330722ANXA2chr15

60674541

-KRT6Achr12

52884737

-
Frame-shiftENST00000451270ENST00000330722ANXA2chr15

60674541

-KRT6Achr12

52884737

-

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-KRT6A


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)


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Fusion Protein Features for ANXA2-KRT6A


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/:60674541/:52884737)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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 ANXA2-KRT6A


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-KRT6A


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-KRT6A


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 ANXA2-KRT6A


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
TgeneC3714948PACHYONYCHIA CONGENITA 312UNIPROT
TgeneC1706595Pachyonychia Congenita, Jadassohn Lewandowsky Type1CTD_human;GENOMICS_ENGLAND