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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:ANXA4-GKN1 (FusionGDB2 ID:HG307TG56287)

Fusion Gene Summary for ANXA4-GKN1

check button Fusion gene summary
Fusion gene informationFusion gene name: ANXA4-GKN1
Fusion gene ID: hg307tg56287
HgeneTgene
Gene symbol

ANXA4

GKN1

Gene ID

307

56287

Gene nameannexin A4gastrokine 1
SynonymsANX4|HEL-S-274|P32.5|PAP-II|PIG28|PP4-X|ZAP36AMP18|BRICD1|CA11|FOV|foveolin
Cytomap('ANXA4')('GKN1')

2p13.3

2p13.3

Type of geneprotein-codingprotein-coding
Descriptionannexin A435-beta calcimedinannexin IV (placental anticoagulant protein II)annexin-4carbohydrate-binding protein p33/p41chromobindin-4endonexin Iepididymis secretory protein Li 274lipocortin IVplacental anticoagulant protein IIproliferation-indugastrokine-118 kDa antrum mucosa proteinBRICHOS domain containing 1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000536030, ENST00000394295, 
ENST00000409920, ENST00000418066, 
Fusion gene scores* DoF score14 X 12 X 7=11769 X 7 X 4=252
# samples 1610
** MAII scorelog2(16/1176*10)=-2.877744249949
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/252*10)=-1.33342373372519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANXA4 [Title/Abstract] AND GKN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANXA4(70008706)-GKN1(69204627), # samples:2
Anticipated loss of major functional domain due to fusion event.ANXA4-GKN1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ANXA4-GKN1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneANXA4

GO:0006357

regulation of transcription by RNA polymerase II

20237821

HgeneANXA4

GO:0032088

negative regulation of NF-kappaB transcription factor activity

20237821


check buttonFusion gene breakpoints across ANXA4 (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 GKN1 (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
* 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
ChimerDB4BLCATCGA-DK-AA75-01AANXA4chr2

70008706

-GKN1chr2

69204627

+
ChimerDB4BLCATCGA-DK-AA75-01AANXA4chr2

70008706

+GKN1chr2

69204627

+


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Fusion Gene ORF analysis for ANXA4-GKN1

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-3CDSENST00000536030ENST00000377938ANXA4chr2

70008706

+GKN1chr2

69204627

+
In-frameENST00000394295ENST00000377938ANXA4chr2

70008706

+GKN1chr2

69204627

+
In-frameENST00000409920ENST00000377938ANXA4chr2

70008706

+GKN1chr2

69204627

+
intron-3CDSENST00000418066ENST00000377938ANXA4chr2

70008706

+GKN1chr2

69204627

+

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)
ENST00000409920ANXA4chr270008706+ENST00000377938GKN1chr269204627+954257248802184
ENST00000394295ANXA4chr270008706+ENST00000377938GKN1chr269204627+954257248802184

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
ENST00000409920ENST00000377938ANXA4chr270008706+GKN1chr269204627+0.0003091340.9996909
ENST00000394295ENST00000377938ANXA4chr270008706+GKN1chr269204627+0.0003091340.9996909

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Fusion Genomic Features for ANXA4-GKN1


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)
ANXA4chr270008706+GKN1chr269204626+1.14E-060.9999988
ANXA4chr270008706+GKN1chr269204626+1.14E-060.9999988

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 ANXA4-GKN1


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/chr2:70008706/chr2:69204627)
- 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
TgeneGKN1chr2:70008706chr2:69204627ENST000003779380668_16418200.0DomainBRICHOS

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneANXA4chr2:70008706chr2:69204627ENST00000394295+21314_853322.0RepeatAnnexin 1
HgeneANXA4chr2:70008706chr2:69204627ENST00000394295+213169_2413322.0RepeatAnnexin 3
HgeneANXA4chr2:70008706chr2:69204627ENST00000394295+213245_3163322.0RepeatAnnexin 4
HgeneANXA4chr2:70008706chr2:69204627ENST00000394295+21386_1573322.0RepeatAnnexin 2


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Fusion Gene Sequence for ANXA4-GKN1


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.
>5058_5058_1_ANXA4-GKN1_ANXA4_chr2_70008706_ENST00000394295_GKN1_chr2_69204627_ENST00000377938_length(transcript)=954nt_BP=257nt
GCGCGGCCGTCCCGGCCCGGGGCCCCAGGTGCGCTTCCCCTAGAGAGGGATTTTCCGGTCTCGTGGGCAGAGGAACAACCAGGAACTTGG
GCTCAGTCTCCACCCCACAGTGGGGCGGATCCGTCCCGGATAAGACCCGCTGTCTGGCCCTGAGTAGGGTGTGACCTCCGCAGCCGCAGA
GGAGGAGCGCAGCCCGGCCTCGAAGAACTTCTGCTTGGGTGGCTGAACTCTGATCTTGACCTAGAGTCATGGCCATGATTGTCTTTGCTG
GACTTCTTGGAGTCTTTCTAGCTCCTGCCCTAGCTAACTATAATATCAACGTCAATGATGACAACAACAATGCTGGAAGTGGGCAGCAGT
CAGTGAGTGTCAACAATGAACACAATGTGGCCAATGTTGACAATAACAACGGATGGGACTCCTGGAATTCCATCTGGGATTATGGAAATG
GCTTTGCTGCAACCAGACTCTTTCAAAAGAAGACATGCATTGTGCACAAAATGAACAAGGAAGTCATGCCCTCCATTCAATCCCTTGATG
CACTGGTCAAGGAAAAGAAGCTTCAGGGTAAGGGACCAGGAGGACCACCTCCCAAGGGCCTGATGTACTCAGTCAACCCAAACAAAGTCG
ATGACCTGAGCAAGTTCGGAAAAAACATTGCAAACATGTGTCGTGGGATTCCAACATACATGGCTGAGGAGATGCAAGAGGCAAGCCTGT
TTTTTTACTCAGGAACGTGCTACACGACCAGTGTACTATGGATTGTGGACATTTCCTTCTGTGGAGACACGGTGGAGAACTAAACAATTT
TTTAAAGCCACTATGGATTTAGTCATCTGAATATGCTGTGCAGAAAAAATATGGGCTCCAGTGGTTTTTACCATGTCATTCTGAAATTTT

>5058_5058_1_ANXA4-GKN1_ANXA4_chr2_70008706_ENST00000394295_GKN1_chr2_69204627_ENST00000377938_length(amino acids)=184AA_BP=3
MAMIVFAGLLGVFLAPALANYNINVNDDNNNAGSGQQSVSVNNEHNVANVDNNNGWDSWNSIWDYGNGFAATRLFQKKTCIVHKMNKEVM
PSIQSLDALVKEKKLQGKGPGGPPPKGLMYSVNPNKVDDLSKFGKNIANMCRGIPTYMAEEMQEASLFFYSGTCYTTSVLWIVDISFCGD

--------------------------------------------------------------
>5058_5058_2_ANXA4-GKN1_ANXA4_chr2_70008706_ENST00000409920_GKN1_chr2_69204627_ENST00000377938_length(transcript)=954nt_BP=257nt
GCGCGGCCGTCCCGGCCCGGGGCCCCAGGTGCGCTTCCCCTAGAGAGGGATTTTCCGGTCTCGTGGGCAGAGGAACAACCAGGAACTTGG
GCTCAGTCTCCACCCCACAGTGGGGCGGATCCGTCCCGGATAAGACCCGCTGTCTGGCCCTGAGTAGGGTGTGACCTCCGCAGCCGCAGA
GGAGGAGCGCAGCCCGGCCTCGAAGAACTTCTGCTTGGGTGGCTGAACTCTGATCTTGACCTAGAGTCATGGCCATGATTGTCTTTGCTG
GACTTCTTGGAGTCTTTCTAGCTCCTGCCCTAGCTAACTATAATATCAACGTCAATGATGACAACAACAATGCTGGAAGTGGGCAGCAGT
CAGTGAGTGTCAACAATGAACACAATGTGGCCAATGTTGACAATAACAACGGATGGGACTCCTGGAATTCCATCTGGGATTATGGAAATG
GCTTTGCTGCAACCAGACTCTTTCAAAAGAAGACATGCATTGTGCACAAAATGAACAAGGAAGTCATGCCCTCCATTCAATCCCTTGATG
CACTGGTCAAGGAAAAGAAGCTTCAGGGTAAGGGACCAGGAGGACCACCTCCCAAGGGCCTGATGTACTCAGTCAACCCAAACAAAGTCG
ATGACCTGAGCAAGTTCGGAAAAAACATTGCAAACATGTGTCGTGGGATTCCAACATACATGGCTGAGGAGATGCAAGAGGCAAGCCTGT
TTTTTTACTCAGGAACGTGCTACACGACCAGTGTACTATGGATTGTGGACATTTCCTTCTGTGGAGACACGGTGGAGAACTAAACAATTT
TTTAAAGCCACTATGGATTTAGTCATCTGAATATGCTGTGCAGAAAAAATATGGGCTCCAGTGGTTTTTACCATGTCATTCTGAAATTTT

>5058_5058_2_ANXA4-GKN1_ANXA4_chr2_70008706_ENST00000409920_GKN1_chr2_69204627_ENST00000377938_length(amino acids)=184AA_BP=3
MAMIVFAGLLGVFLAPALANYNINVNDDNNNAGSGQQSVSVNNEHNVANVDNNNGWDSWNSIWDYGNGFAATRLFQKKTCIVHKMNKEVM
PSIQSLDALVKEKKLQGKGPGGPPPKGLMYSVNPNKVDDLSKFGKNIANMCRGIPTYMAEEMQEASLFFYSGTCYTTSVLWIVDISFCGD

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

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Fusion Gene PPI Analysis for ANXA4-GKN1


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 ANXA4-GKN1


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 ANXA4-GKN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneANXA4C0007097Carcinoma1CTD_human
HgeneANXA4C0007134Renal Cell Carcinoma1CTD_human
HgeneANXA4C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneANXA4C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneANXA4C0023903Liver neoplasms1CTD_human
HgeneANXA4C0024667Animal Mammary Neoplasms1CTD_human
HgeneANXA4C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneANXA4C0026998Acute Myeloid Leukemia, M11CTD_human
HgeneANXA4C0027627Neoplasm Metastasis1CTD_human
HgeneANXA4C0032927Precancerous Conditions1CTD_human
HgeneANXA4C0033578Prostatic Neoplasms1CTD_human
HgeneANXA4C0205696Anaplastic carcinoma1CTD_human
HgeneANXA4C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneANXA4C0205698Undifferentiated carcinoma1CTD_human
HgeneANXA4C0205699Carcinomatosis1CTD_human
HgeneANXA4C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneANXA4C0282313Condition, Preneoplastic1CTD_human
HgeneANXA4C0345904Malignant neoplasm of liver1CTD_human
HgeneANXA4C0376358Malignant neoplasm of prostate1CTD_human
HgeneANXA4C1257925Mammary Carcinoma, Animal1CTD_human
HgeneANXA4C1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneANXA4C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneANXA4C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneANXA4C1306837Papillary Renal Cell Carcinoma1CTD_human
HgeneANXA4C1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
HgeneANXA4C2239176Liver carcinoma1CTD_human
TgeneC0001418Adenocarcinoma1CTD_human
TgeneC0010093Corpus Luteum Cyst1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0029927Ovarian Cysts1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneC0205643Carcinoma, Cribriform1CTD_human
TgeneC0205644Carcinoma, Granular Cell1CTD_human
TgeneC0205645Adenocarcinoma, Tubular1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human