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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:PAMR1-TRIM44 (FusionGDB2 ID:HG25891TG54765)

Fusion Gene Summary for PAMR1-TRIM44

check button Fusion gene summary
Fusion gene informationFusion gene name: PAMR1-TRIM44
Fusion gene ID: hg25891tg54765
HgeneTgene
Gene symbol

PAMR1

TRIM44

Gene ID

25891

54765

Gene namepeptidase domain containing associated with muscle regeneration 1tripartite motif containing 44
SynonymsDKFZP586H2123|FP938|RAMPAN3|DIPB|HSA249128|MC7
Cytomap('PAMR1')('TRIM44')

11p13

11p13

Type of geneprotein-codingprotein-coding
Descriptioninactive serine protease PAMR1peptidase domain-containing protein associated with muscle regeneration 1regeneration associated muscle proteaseregeneration-associated muscle protease homologtripartite motif-containing protein 44
Modification date2020031320200315
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000278360, ENST00000378878, 
ENST00000378880, ENST00000532848, 
ENST00000534803, 
Fusion gene scores* DoF score3 X 4 X 3=3610 X 6 X 6=360
# samples 411
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(11/360*10)=-1.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PAMR1 [Title/Abstract] AND TRIM44 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPAMR1(35513593)-TRIM44(35827908), # samples:1
Anticipated loss of major functional domain due to fusion event.PAMR1-TRIM44 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.
PAMR1-TRIM44 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.
PAMR1-TRIM44 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.
PAMR1-TRIM44 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
TgeneTRIM44

GO:0001961

positive regulation of cytokine-mediated signaling pathway

23460740

TgeneTRIM44

GO:0002230

positive regulation of defense response to virus by host

23460740

TgeneTRIM44

GO:0045893

positive regulation of transcription, DNA-templated

23460740

TgeneTRIM44

GO:0050821

protein stabilization

23460740

TgeneTRIM44

GO:0061944

negative regulation of protein K48-linked ubiquitination

23460740

TgeneTRIM44

GO:1901224

positive regulation of NIK/NF-kappaB signaling

23460740


check buttonFusion gene breakpoints across PAMR1 (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 TRIM44 (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
ChimerDB4STADTCGA-IN-7808-01APAMR1chr11

35513593

-TRIM44chr11

35827908

+


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Fusion Gene ORF analysis for PAMR1-TRIM44

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
5CDS-3UTRENST00000278360ENST00000532066PAMR1chr11

35513593

-TRIM44chr11

35827908

+
5CDS-3UTRENST00000378878ENST00000532066PAMR1chr11

35513593

-TRIM44chr11

35827908

+
5CDS-3UTRENST00000378880ENST00000532066PAMR1chr11

35513593

-TRIM44chr11

35827908

+
5CDS-3UTRENST00000532848ENST00000532066PAMR1chr11

35513593

-TRIM44chr11

35827908

+
5UTR-3CDSENST00000534803ENST00000299413PAMR1chr11

35513593

-TRIM44chr11

35827908

+
5UTR-3UTRENST00000534803ENST00000532066PAMR1chr11

35513593

-TRIM44chr11

35827908

+
Frame-shiftENST00000278360ENST00000299413PAMR1chr11

35513593

-TRIM44chr11

35827908

+
Frame-shiftENST00000378878ENST00000299413PAMR1chr11

35513593

-TRIM44chr11

35827908

+
Frame-shiftENST00000378880ENST00000299413PAMR1chr11

35513593

-TRIM44chr11

35827908

+
In-frameENST00000532848ENST00000299413PAMR1chr11

35513593

-TRIM44chr11

35827908

+

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)
ENST00000532848PAMR1chr1135513593-ENST00000299413TRIM44chr1135827908+26838155561050164

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
ENST00000532848ENST00000299413PAMR1chr1135513593-TRIM44chr1135827908+0.0057239420.9942761

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Fusion Genomic Features for PAMR1-TRIM44


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)
PAMR1chr1135513592-TRIM44chr1135827907+0.003107810.9968923
PAMR1chr1135513592-TRIM44chr1135827907+0.003107810.9968923

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 PAMR1-TRIM44


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/chr11:35513593/chr11:35827908)
- 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
HgenePAMR1chr11:35513593chr11:35827908ENST00000278360-31242_94126738.0Compositional biasNote=Cys-rich
HgenePAMR1chr11:35513593chr11:35827908ENST00000378880-31142_94126721.0Compositional biasNote=Cys-rich

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePAMR1chr11:35513593chr11:35827908ENST00000278360-312128_236126738.0DomainCUB
HgenePAMR1chr11:35513593chr11:35827908ENST00000278360-312235_272126738.0DomainEGF-like
HgenePAMR1chr11:35513593chr11:35827908ENST00000278360-312278_344126738.0DomainSushi 1
HgenePAMR1chr11:35513593chr11:35827908ENST00000278360-312387_444126738.0DomainSushi 2
HgenePAMR1chr11:35513593chr11:35827908ENST00000278360-312445_720126738.0DomainPeptidase S1
HgenePAMR1chr11:35513593chr11:35827908ENST00000378880-311128_236126721.0DomainCUB
HgenePAMR1chr11:35513593chr11:35827908ENST00000378880-311235_272126721.0DomainEGF-like
HgenePAMR1chr11:35513593chr11:35827908ENST00000378880-311278_344126721.0DomainSushi 1
HgenePAMR1chr11:35513593chr11:35827908ENST00000378880-311387_444126721.0DomainSushi 2
HgenePAMR1chr11:35513593chr11:35827908ENST00000378880-311445_720126721.0DomainPeptidase S1
TgeneTRIM44chr11:35513593chr11:35827908ENST0000029941335290_325335345.0Coiled coilOntology_term=ECO:0000255
TgeneTRIM44chr11:35513593chr11:35827908ENST000002994133574_172335345.0Compositional biasNote=Glu-rich
TgeneTRIM44chr11:35513593chr11:35827908ENST0000029941335174_215335345.0Zinc fingerB box-type


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Fusion Gene Sequence for PAMR1-TRIM44


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.
>62512_62512_1_PAMR1-TRIM44_PAMR1_chr11_35513593_ENST00000532848_TRIM44_chr11_35827908_ENST00000299413_length(transcript)=2683nt_BP=815nt
TTCATTAGGGCTGGAGACTTCCATGAAGGGGCCAGTTACAGCAGGCTCCAGTGGAAGGGCCCTTTGTCTTTTCCACAATCCTGCCCTTCT
CCATCTCTGGCCTTGGCTGACTTGAACTTGGTGTTTTGCACAGCTGATGGAAACCAAACTTAATTACCAGAAGTCTGGGATGCCTCTTAT
AGGTTTGCAGACCAGTTCTACCTCTGGCCTGTTTCCTCTGGCTTTCCCAGTGTGTGGTTGCTGCTTAGCTGCTGATCTGCAGAAGTGATA
GCTGGGAGATAGAGGGAACTGTAAGAATTCACAAAGACAGTCTCCTCTGCTGTTTCTCCCTGTGGATTCACATGCAACCAGCCTCCCTGG
TGGCACTGAAAAAGCCCTGGGATTATTGTGCAGTTCAACAAGAATGATGAACGACATACCTGAGAGCCAGACCAGCATGATGGTTAATGC
TCTCTGACTCTGGAAACAGCCTACTTGGATTTGAATCCTGTCTCTGCTACTTACTACTTAGTACACAGTCATTAATGAAGCCTGCCCTGG
AGCAGAGTGGAATATCATGTGTCGGGAGTGCTGTGAATATGATCAGATTGAGTGCGTCTGCCCCGGAAAGAGGGAAGTCGTGGGTTATAC
CATCCCTTGCTGCAGGAATGAGGAGAATGAGTGTGACTCCTGCCTGATCCACCCAGGTTGTACCATCTTTGAAAACTGCAAGAGCTGCCG
AAATGGCTCATGGGGGGGTACCTTGGATGACTTCTATGTGAAGGGGTTCTACTGTGCAGAGTGCCGAGCAGGCTGGTACGGAGGAGACTG
CATGCTGGTGCCAGTGAAGAAGAGGACACATGAAGGCTTGCTACCCCCAGTGGAAAATCATCCCCTCCCCTTGTGTGTATGTGACAGCGT
GTATGTAACGGCTTCTGATTTCTGTGAAAGCTGCTCAGCAACAAACGTACTTCCACCAGATGTGTCCCCAGATCCACAGCAGGCACATAT
CTCTCCAAGGGATGACCAGTTTTATGCTTACTGTGTGCTTCTCATCCCCTGGTTGTGGTAGGTCAAGGAAAAGAGCCCCTTTGATCCACC
AGGAGCAATTAAGAAAGGTCCTTCAGGTAATCCCTCAATGGCTGCTTTGAACTTACTCAGGAAAGCCAGCCCCCATAATATTGTATTACC
AAACAGTATCGCTTTGTTAGGAAGGATCTGGAATAATCTTGAAGGGAAGTCAGAGTTTTCTCCCTGCCTATTAACAAAAACCCAATTTTG
TTCATATTGAAGCATGAAATAAATGAGAGCAAGGTAGGGCCAAATTAACTCTTGTGGACAGTCCCTAAAAGTCCAGTTCTACATTTGTGA
AAATTGTGGTGCCATGAATTAAGATGGATGACTGGAAAAAGGTGTTGGAGAAAGAGTTAAAGATGAGGAAGAGATATTTTTAGTATATGA
AGTTATCCAGGACTTGATATTCATAATTCAGTGCTGTGGAAATGAAAAAAATGATTGAAGAGGTGGAACGGAAATGACCTTAGGGGGAAA
AAAAAGGACCAAAGAAGTCTGATTAAAAGTTGAAATCAGTATTTCTGAATTCAAATTGCTTGAATTTCCAAAATAGTCAGTAAAGGATCT
AATAGAACCAGAATTATTTGGGTGAATTCTGCAGGTTTTATGGGCTTGTCACAACGTGAAGGGCTGGAATGTATATTACCAAATGGGAAT
TTCCATTGTAGGTTTTTGCTAGTCCCACCCCCATTTTAGCCTAATTTGGCTTAAACGCAGTATGGGGAGAATTGTTCCCATTCCATGTGT
TCTGAATTCAGCTCATCTCCCAGCATATAGATATATCCTCCTTTAACTCCGACCAGAACCCTTCTTCCTGTGGCACTCCCCACCCATAGA
CCTTCAGATCATCTCCCACACCCTGGATCTCACTCTCCTCTTAGTAACAGAGACACTCCTGAGGTTGGACTTCCTTGCTTTTCTCTACTT
CCAAATCACAATTTCTTACAACCAAGCTTTGTGCTCCCGAGTAAGCAGGGATGTACTAGGGGAATGTAAAACTGCAAACTTAAAAACCTG
CATCTTCTTGAAGCATCAGTTTTACTTACCAAATGGTTTAGAGTCATAAGATGACCTATTTTTATATAAAAGTTATATTATAGAATAAAA
TGTTCATACGCATAGACTGTTAAGATAAAAAAATAGGAATCTTGCAAGGTAATTCTTATTTGCAAGTGGGTTATGTGTTCACTCTCCTCT
ACCTTTATGGTATTTTGGTGTTCACTTACGAAGCATACAACTAGAACCATATCCAAGCAGACTCTGGGTTGCTGTTAACCCAGGGCCTAG
ACTTCTAGTGCCTCTGAGGCAGAACCAAAGGAGCCTGCACTGGGGGAAATCCCTTTTCCTGCCTGCCTGTCTGCCTGTGACCTGTGTACG
TATTACAGGCTTTAGGACCAGCTGATTGTTATGCTTGCAGGATGGTTTTGAAACAGAAACAATACTTGTTTACTGTAGGAATCCTATTTA
TATTATTTTTCAGTCCTGTGAATGCTGTGAAAAGATTTATTCCTTTGAGGCCAGGAAGCTCCCAGGCATATATGCTTCTAGGTTAGGATT

>62512_62512_1_PAMR1-TRIM44_PAMR1_chr11_35513593_ENST00000532848_TRIM44_chr11_35827908_ENST00000299413_length(amino acids)=164AA_BP=87
MCRECCEYDQIECVCPGKREVVGYTIPCCRNEENECDSCLIHPGCTIFENCKSCRNGSWGGTLDDFYVKGFYCAECRAGWYGGDCMLVPV

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

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Fusion Gene PPI Analysis for PAMR1-TRIM44


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 PAMR1-TRIM44


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 PAMR1-TRIM44


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePAMR1C0023893Liver Cirrhosis, Experimental1CTD_human
HgenePAMR1C2239176Liver carcinoma1CTD_human
TgeneC0003076Aniridia1CTD_human;ORPHANET
TgeneC4310695ANIRIDIA 31GENOMICS_ENGLAND;UNIPROT