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Center for Computational Systems Medicine level2
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:TPM2-ACTG1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: TPM2-ACTG1
FusionPDB ID: 93351
FusionGDB2.0 ID: 93351
HgeneTgene
Gene symbol

TPM2

ACTG1

Gene ID

7169

71

Gene nametropomyosin 2actin gamma 1
SynonymsAMCD1|DA1|DA2B|DA2B4|HEL-S-273|NEM4|TMSBACT|ACTG|DFNA20|DFNA26|HEL-176
Cytomap

9p13.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptiontropomyosin beta chainepididymis secretory protein Li 273nemaline myopathy type 4tropomyosin 2 (beta)actin, cytoplasmic 2cytoskeletal gamma-actinepididymis luminal protein 176
Modification date2020032820200327
UniProtAcc.

P63261

Ensembl transtripts involved in fusion geneENST idsENST00000378292, ENST00000329305, 
ENST00000360958, ENST00000378300, 
ENST00000331925, ENST00000573283, 
ENST00000575087, ENST00000575842, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score19 X 15 X 5=142540 X 34 X 12=16320
# samples 2147
** MAII scorelog2(21/1425*10)=-2.76250068627334
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(47/16320*10)=-5.11783649029386
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: TPM2 [Title/Abstract] AND ACTG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)TPM2(35685061)-ACTG1(79478652), # samples:7
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
HgeneTPM2

GO:0043462

regulation of ATPase activity

17194691


check buttonFusion gene breakpoints across TPM2 (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 ACTG1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4Non-Cancer265NTPM2chr9

35685060

-ACTG1chr17

79478652

-
ChimerDB4Non-CancerTCGA-AA-3663-11ATPM2chr9

35685061

-ACTG1chr17

79478652

-
ChimerDB4Non-CancerTCGA-BT-A20R-11ATPM2chr9

35685061

-ACTG1chr17

79478652

-
ChimerDB4Non-CancerTCGA-CU-A0YN-11ATPM2chr9

35685061

-ACTG1chr17

79478652

-
ChimerDB4Non-CancerTCGA-FL-A1YG-11ATPM2chr9

35685061

-ACTG1chr17

79478652

-
ChimerDB4Non-CancerTCGA-FP-7829-11ATPM2chr9

35685061

-ACTG1chr17

79478652

-
ChimerDB4Non-CancerTCGA-HU-A4GC-11ATPM2chr9

35685061

-ACTG1chr17

79478652

-
ChimerDB4Non-CancerTCGA-HU-A4GP-11ATPM2chr9

35685061

-ACTG1chr17

79478652

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000378292TPM2chr935685060-ENST00000331925ACTG1chr1779478652-3326184211732606477
ENST00000378292TPM2chr935685060-ENST00000573283ACTG1chr1779478652-3309184211732606477
ENST00000378292TPM2chr935685060-ENST00000575842ACTG1chr1779478652-3308184211732606477
ENST00000378292TPM2chr935685060-ENST00000575087ACTG1chr1779478652-3289184211732606477
ENST00000378292TPM2chr935685061-ENST00000331925ACTG1chr1779478652-3326184211732606477
ENST00000378292TPM2chr935685061-ENST00000573283ACTG1chr1779478652-3309184211732606477
ENST00000378292TPM2chr935685061-ENST00000575842ACTG1chr1779478652-3308184211732606477
ENST00000378292TPM2chr935685061-ENST00000575087ACTG1chr1779478652-3289184211732606477

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
ENST00000378292ENST00000331925TPM2chr935685060-ACTG1chr1779478652-0.0054419350.9945581
ENST00000378292ENST00000573283TPM2chr935685060-ACTG1chr1779478652-0.0053848720.99461514
ENST00000378292ENST00000575842TPM2chr935685060-ACTG1chr1779478652-0.0053644790.9946355
ENST00000378292ENST00000575087TPM2chr935685060-ACTG1chr1779478652-0.0054754410.9945246
ENST00000378292ENST00000331925TPM2chr935685061-ACTG1chr1779478652-0.0054419350.9945581
ENST00000378292ENST00000573283TPM2chr935685061-ACTG1chr1779478652-0.0053848720.99461514
ENST00000378292ENST00000575842TPM2chr935685061-ACTG1chr1779478652-0.0053644790.9946355
ENST00000378292ENST00000575087TPM2chr935685061-ACTG1chr1779478652-0.0054754410.9945246

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>93351_93351_1_TPM2-ACTG1_TPM2_chr9_35685060_ENST00000378292_ACTG1_chr17_79478652_ENST00000331925_length(amino acids)=477AA_BP=223
MPAGPPPTAAMDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLV
ILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEG
YALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCP
EALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILAS

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

>93351_93351_2_TPM2-ACTG1_TPM2_chr9_35685060_ENST00000378292_ACTG1_chr17_79478652_ENST00000573283_length(amino acids)=477AA_BP=223
MPAGPPPTAAMDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLV
ILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEG
YALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCP
EALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILAS

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

>93351_93351_3_TPM2-ACTG1_TPM2_chr9_35685060_ENST00000378292_ACTG1_chr17_79478652_ENST00000575087_length(amino acids)=477AA_BP=223
MPAGPPPTAAMDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLV
ILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEG
YALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCP
EALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILAS

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

>93351_93351_4_TPM2-ACTG1_TPM2_chr9_35685060_ENST00000378292_ACTG1_chr17_79478652_ENST00000575842_length(amino acids)=477AA_BP=223
MPAGPPPTAAMDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLV
ILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEG
YALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCP
EALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILAS

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

>93351_93351_5_TPM2-ACTG1_TPM2_chr9_35685061_ENST00000378292_ACTG1_chr17_79478652_ENST00000331925_length(amino acids)=477AA_BP=223
MPAGPPPTAAMDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLV
ILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEG
YALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCP
EALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILAS

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

>93351_93351_6_TPM2-ACTG1_TPM2_chr9_35685061_ENST00000378292_ACTG1_chr17_79478652_ENST00000573283_length(amino acids)=477AA_BP=223
MPAGPPPTAAMDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLV
ILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEG
YALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCP
EALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILAS

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

>93351_93351_7_TPM2-ACTG1_TPM2_chr9_35685061_ENST00000378292_ACTG1_chr17_79478652_ENST00000575087_length(amino acids)=477AA_BP=223
MPAGPPPTAAMDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLV
ILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEG
YALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCP
EALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILAS

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

>93351_93351_8_TPM2-ACTG1_TPM2_chr9_35685061_ENST00000378292_ACTG1_chr17_79478652_ENST00000575842_length(amino acids)=477AA_BP=223
MPAGPPPTAAMDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLV
ILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEG
YALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCP
EALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILAS

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

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Fusion Protein Functional Features


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/chr9:35685061/chr17:79478652)
- 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
.ACTG1

P63261

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.FUNCTION: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. {ECO:0000305|PubMed:29581253}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTPM2chr9:35685060chr17:79478652ENST00000360958-191_2840285.0Coiled coilOntology_term=ECO:0000250
HgeneTPM2chr9:35685060chr17:79478652ENST00000378292-691_284213.0285.0Coiled coilOntology_term=ECO:0000250
HgeneTPM2chr9:35685061chr17:79478652ENST00000360958-191_2840285.0Coiled coilOntology_term=ECO:0000250
HgeneTPM2chr9:35685061chr17:79478652ENST00000378292-691_284213.0285.0Coiled coilOntology_term=ECO:0000250


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>1000_TPM2_35685061_ACTG1_79478652_1000_TPM2_35685061_ACTG1_79478652_ranked_0.pdbTPM23568506135685061ENST00000575087ACTG1chr1779478652-
MPAGPPPTAAMDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLV
ILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEG
YALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCP
EALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILAS
477


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
TPM2_pLDDT.png
all structure
all structure
ACTG1_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
ACTG1CFL2, CFL1, ACTG1, ACTB, DSTN, TMSB4X, FHOD1, EPS8L1, EPS8L2, FEZ1, CTNND1, ST3GAL3, SH3GL2, EIF6, PFN2, PRSS23, BCAP31, RBX1, MDK, CAP1, CAP2, RUVBL2, MEPCE, RUVBL1, gag, MORF4L1, MORF4L2, MRGBP, DMAP1, KAT5, POU5F1, UCHL5, YWHAQ, DISC1, TNIK, RPS6KA5, MAPK6, NDRG1, SP1, UBE2Q2, FBXO25, MYOC, LRRK2, APOE, PSEN2, BRCA1, LIG4, TSGA10, TRAF3IP1, GZMK, GZMA, HSP90AA1, HSP90AB1, PPP1CC, MYC, MLH1, UBL4A, ITGA4, ILF3, AICDA, WIPF1, FN1, CTTN, ADRB2, PLD1, CTBP2, GIT2, GRB2, COTL1, WASL, FBXO6, TOPBP1, CDKN2A, ACTA1, ACTBL2, BRK1, HSPA5, UBASH3B, ERRFI1, LGR4, EHHADH, CCDC22, WDYHV1, CCDC101, CCDC8, EZH2, SUZ12, EED, RNF2, BMI1, FAF2, RPS6KB2, CORO1B, CORO1C, CAD, EEF1A1, EEF1A2, NCKAP1, RAN, YARS, SFN, HSPB2, SRPK2, HIST1H3E, CAPZA2, CDK2, DBN1, FLNA, MYH9, MYO1C, PPP1CB, VCL, IQGAP1, PDLIM7, LIMA1, ANLN, MYO5C, MYO19, MYO18A, Actb, Flot1, Flot2, Myh9, Myo1c, Tpm1, Coro1c, Tmod3, Lima1, Tmed10, Calml3, Myh10, Flnb, TRAF2, VASP, GAN, MCM2, SHC1, ERBB3, RC3H1, Pparg, DUSP19, C17orf89, MCPH1, ACT1, AIP1, SRP1, TAE1, HDAC6, ZNF598, FGFR1, CTNNB1, KRAS, LARS, ACO2, CSNK1A1, TGFB1, PRPF8, EFTUD2, AAR2, PPP5C, CHD3, RIOK1, ESR2, H2AFZ, H3F3A, HIST1H4H, HIST2H2AC, VIM, GPD1, CERS1, HEXIM1, LARP7, CDH1, BIN1, CDK9, TLR9, RC3H2, PSMA3, FAF1, IKBKG, FADD, TANK, USP14, UCHL3, DCTN4, HOOK3, HRAS, MAPT, HIST1H4A, PSMD14, BIRC3, WWP2, HTT, PARK2, CDC37, PLEKHA4, MAGEA3, S, FANCD2, LINC01554, ZC3H18, DOK2, ELK4, MAPK7, PRKCA, PTPN12, PTPRR, RASA1, SH3BGRL, NEK4, DUX4, FASN, LDLR, SREBF2, AIMP2, BRD4, NUPR1, ORF14, Apc2, WDR76, RNF208, EIF3F, INSIG1, INSIG2, RIN3, DDX58, SPOP, ISG15, UFL1, DDRGK1, TP53, NPM1, FXR1, WDR5, BGLT3, SPRTN, BTF3, SLFN11, LHPP, CCNF, MAP1LC3B, NBR1, SQSTM1, OPTN, TOLLIP, NR3C1,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
TPM2
ACTG1all structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to TPM2-ACTG1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to TPM2-ACTG1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneACTG1C3711374Nonsyndromic Deafness18CLINGEN
TgeneACTG1C1858172Deafness, Autosomal Dominant 208CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneACTG1C3281235BARAITSER-WINTER SYNDROME 24CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneACTG1C0001787Osteoporosis, Age-Related1CTD_human
TgeneACTG1C0005745Blepharoptosis1GENOMICS_ENGLAND
TgeneACTG1C0007097Carcinoma1CTD_human
TgeneACTG1C0007621Neoplastic Cell Transformation1CTD_human
TgeneACTG1C0009363Congenital ocular coloboma (disorder)1CTD_human
TgeneACTG1C0014544Epilepsy1GENOMICS_ENGLAND
TgeneACTG1C0024433Macrostomia1GENOMICS_ENGLAND
TgeneACTG1C0024667Animal Mammary Neoplasms1CTD_human
TgeneACTG1C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneACTG1C0029456Osteoporosis1CTD_human
TgeneACTG1C0029459Osteoporosis, Senile1CTD_human
TgeneACTG1C0033377Ptosis1GENOMICS_ENGLAND
TgeneACTG1C0205696Anaplastic carcinoma1CTD_human
TgeneACTG1C0205697Carcinoma, Spindle-Cell1CTD_human
TgeneACTG1C0205698Undifferentiated carcinoma1CTD_human
TgeneACTG1C0205699Carcinomatosis1CTD_human
TgeneACTG1C0240583Short upturned nose1GENOMICS_ENGLAND
TgeneACTG1C0265541Cranioschisis1CTD_human
TgeneACTG1C0266551Congenital coloboma of iris1ORPHANET
TgeneACTG1C0376634Craniofacial Abnormalities1CTD_human
TgeneACTG1C0497552Congenital neurologic anomalies1CTD_human
TgeneACTG1C0751406Post-Traumatic Osteoporosis1CTD_human
TgeneACTG1C0857379Abnormality of the pinna1GENOMICS_ENGLAND
TgeneACTG1C0948089Acute Coronary Syndrome1CTD_human
TgeneACTG1C1257925Mammary Carcinoma, Animal1CTD_human
TgeneACTG1C1384666hearing impairment1GENOMICS_ENGLAND
TgeneACTG1C1843156Progressive sensorineural hearing impairment1GENOMICS_ENGLAND
TgeneACTG1C1844505Pointed chin1GENOMICS_ENGLAND
TgeneACTG1C1849340Long palpebral fissure1GENOMICS_ENGLAND
TgeneACTG1C1855722Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation1ORPHANET
TgeneACTG1C1865014Long philtrum1GENOMICS_ENGLAND
TgeneACTG1C1865017Thin upper lip vermilion1GENOMICS_ENGLAND
TgeneACTG1C1868571Highly arched eyebrow1GENOMICS_ENGLAND
TgeneACTG1C1970280Hearing loss begins with loss of high frequencies1GENOMICS_ENGLAND
TgeneACTG1C1970281Audiogram shows sloping configuration1GENOMICS_ENGLAND
TgeneACTG1C1970282Deafness, profound, by 6th decade1GENOMICS_ENGLAND
TgeneACTG1C3279369Microphthalmia (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C3549665Deafness (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C3808883Short neck (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4012410Enlarged ventricles (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4229649Heart defect (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4229650Pterygium colli (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4229651Hypertelorism/telecanthus1GENOMICS_ENGLAND
TgeneACTG1C4229652Eye coloboma (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4229653Trigonocephaly/metopic ridge1GENOMICS_ENGLAND
TgeneACTG1C4231117Pectus (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4231118Kyphosis/scoliosis (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4231120Prominent nasal root on profile1GENOMICS_ENGLAND
TgeneACTG1C4231121Large, squared nose tip1GENOMICS_ENGLAND
TgeneACTG1C4231123Retrognathia (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4231124Prominent/full/wide cheeks1GENOMICS_ENGLAND
TgeneACTG1C4554007Uveoretinal Coloboma1CTD_human
TgeneACTG1C4708599Coloboma of choroid and retina1ORPHANET