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in Kim Lab

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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:TGM2-COL4A1 (FusionGDB2 ID:HG7052TG1282)

Fusion Gene Summary for TGM2-COL4A1

check button Fusion gene summary
Fusion gene informationFusion gene name: TGM2-COL4A1
Fusion gene ID: hg7052tg1282
HgeneTgene
Gene symbol

TGM2

COL4A1

Gene ID

7052

1282

Gene nametransglutaminase 2collagen type IV alpha 1 chain
SynonymsTG(C)|TGCBSVD|BSVD1|PADMAL|RATOR
Cytomap('TGM2')('COL4A1')

20q11.23

13q34

Type of geneprotein-codingprotein-coding
Descriptionprotein-glutamine gamma-glutamyltransferase 2C polypeptide, protein-glutamine-gamma-glutamyltransferaseTGase CTGase HTGase-2tissue transglutaminasetransglutaminase Ctransglutaminase Hcollagen alpha-1(IV) chainCOL4A1 NC1 domainarrestencollagen IV, alpha-1 polypeptidecollagen of basement membrane, alpha-1 chain
Modification date2020032020200313
UniProtAcc.

P02462

Ensembl transtripts involved in fusion geneENST00000361475, ENST00000536701, 
ENST00000536724, 
Fusion gene scores* DoF score11 X 11 X 4=48414 X 14 X 7=1372
# samples 1316
** MAII scorelog2(13/484*10)=-1.89649542424614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1372*10)=-3.10013667128545
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TGM2 [Title/Abstract] AND COL4A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTGM2(36770466)-COL4A1(110802791), # samples:1
Anticipated loss of major functional domain due to fusion event.TGM2-COL4A1 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.
TGM2-COL4A1 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
HgeneTGM2

GO:0018149

peptide cross-linking

30458214

HgeneTGM2

GO:0043277

apoptotic cell clearance

19628791


check buttonFusion gene breakpoints across TGM2 (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 COL4A1 (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 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
ChimerDB4STADTCGA-HU-8608-01ATGM2chr20

36770466

-COL4A1chr13

110802791

-


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Fusion Gene ORF analysis for TGM2-COL4A1

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-intronENST00000361475ENST00000467182TGM2chr20

36770466

-COL4A1chr13

110802791

-
5CDS-intronENST00000361475ENST00000543140TGM2chr20

36770466

-COL4A1chr13

110802791

-
5CDS-intronENST00000536701ENST00000467182TGM2chr20

36770466

-COL4A1chr13

110802791

-
5CDS-intronENST00000536701ENST00000543140TGM2chr20

36770466

-COL4A1chr13

110802791

-
5CDS-intronENST00000536724ENST00000467182TGM2chr20

36770466

-COL4A1chr13

110802791

-
5CDS-intronENST00000536724ENST00000543140TGM2chr20

36770466

-COL4A1chr13

110802791

-
In-frameENST00000361475ENST00000375820TGM2chr20

36770466

-COL4A1chr13

110802791

-
In-frameENST00000536701ENST00000375820TGM2chr20

36770466

-COL4A1chr13

110802791

-
In-frameENST00000536724ENST00000375820TGM2chr20

36770466

-COL4A1chr13

110802791

-

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)
ENST00000361475TGM2chr2036770466-ENST00000375820COL4A1chr13110802791-264311691261250374
ENST00000536701TGM2chr2036770466-ENST00000375820COL4A1chr13110802791-229882424905293
ENST00000536724TGM2chr2036770466-ENST00000375820COL4A1chr13110802791-236188724968314

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
ENST00000361475ENST00000375820TGM2chr2036770466-COL4A1chr13110802791-0.0003834750.9996165
ENST00000536701ENST00000375820TGM2chr2036770466-COL4A1chr13110802791-0.0007511240.9992488
ENST00000536724ENST00000375820TGM2chr2036770466-COL4A1chr13110802791-0.0022612720.9977387

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Fusion Genomic Features for TGM2-COL4A1


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)

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

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Fusion Protein Features for TGM2-COL4A1


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/chr20:36770466/chr13:110802791)
- 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
.COL4A1

P02462

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: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. {ECO:0000250|UniProtKB:P02463}.; FUNCTION: Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation. {ECO:0000269|PubMed:10811134, ECO:0000269|PubMed:18775695}.

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
HgeneTGM2chr20:36770466chr13:110802791ENST00000361475-713476_483331688.0Nucleotide bindingGTP
HgeneTGM2chr20:36770466chr13:110802791ENST00000361475-713580_583331688.0Nucleotide bindingGTP
TgeneCOL4A1chr20:36770466chr13:110802791ENST0000037582050521445_166916421670.0DomainCollagen IV NC1
TgeneCOL4A1chr20:36770466chr13:110802791ENST000003758205052173_144016421670.0RegionNote=Triple-helical region


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Fusion Gene Sequence for TGM2-COL4A1


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.
>90516_90516_1_TGM2-COL4A1_TGM2_chr20_36770466_ENST00000361475_COL4A1_chr13_110802791_ENST00000375820_length(transcript)=2643nt_BP=1169nt
ACTGGGCAATGGGTGGCCTCCCAGGTCGCCGCCTTCCCGCGGGGCCCCGCCCCCGGCCCGCCCCAAAGCGGGCTATAAGTTAGCGCCGCT
CTCCGCCTCGGCAGTGCCAGCCGCCAGTGGTCGCACTTGGAGGGTCTCGCCGCCAGTGGAAGGAGCCACCGCCCCCGCCCGACCATGGCC
GAGGAGCTGGTCTTAGAGAGGTGTGATCTGGAGCTGGAGACCAATGGCCGAGACCACCACACGGCCGACCTGTGCCGGGAGAAGCTGGTG
GTGCGACGGGGCCAGCCCTTCTGGCTGACCCTGCACTTTGAGGGCCGCAACTACGAGGCCAGTGTAGACAGTCTCACCTTCAGTGTCGTG
ACCGGCCCAGCCCCTAGCCAGGAGGCCGGGACCAAGGCCCGTTTTCCACTAAGAGATGCTGTGGAGGAGGGTGACTGGACAGCCACCGTG
GTGGACCAGCAAGACTGCACCCTCTCGCTGCAGCTCACCACCCCGGCCAACGCCCCCATCGGCCTGTATCGCCTCAGCCTGGAGGCCTCC
ACTGGCTACCAGGGATCCAGCTTTGTGCTGGGCCACTTCATTTTGCTCTTCAACGCCTGGTGCCCAGCGGATGCTGTGTACCTGGACTCG
GAAGAGGAGCGGCAGGAGTATGTCCTCACCCAGCAGGGCTTTATCTACCAGGGCTCGGCCAAGTTCATCAAGAACATACCTTGGAATTTT
GGGCAGTTTGAAGATGGGATCCTAGACATCTGCCTGATCCTTCTAGATGTCAACCCCAAGTTCCTGAAGAACGCCGGCCGTGACTGCTCC
CGCCGCAGCAGCCCCGTCTACGTGGGCCGGGTGGTGAGTGGCATGGTCAACTGCAACGATGACCAGGGTGTGCTGCTGGGACGCTGGGAC
AACAACTACGGGGACGGCGTCAGCCCCATGTCCTGGATCGGCAGCGTGGACATCCTGCGGCGCTGGAAGAACCACGGCTGCCAGCGCGTC
AAGTATGGCCAGTGCTGGGTCTTCGCCGCCGTGGCCTGCACAGTGCTGAGGTGCCTGGGCATCCCTACCCGCGTCGTGACCAACTACAAC
TCGGCCCATGACCAGAACAGCAACCTTCTCATCGAGTACTTCCGCAATGAGTTTGGGGAGATCCAGGGTGACAAGAGCGAGATGATCTGG
AAGCCTACGCCGTCCACCTTGAAGGCAGGGGAGCTGCGCACGCACGTCAGCCGCTGCCAAGTCTGTATGAGAAGAACATAATGAAGCCTG
ACTCAGCTAATGTCACAACATGGTGCTACTTCTTCTTCTTTTTGTTAACAGCAACGAACCCTAGAAATATATCCTGTGTACCTCACTGTC
CAATATGAAAACCGTAAAGTGCCTTATAGGAATTTGCGTAACTAACACACCCTGCTTCATTGACCTCTACTTGCTGAAGGAGAAAAAGAC
AGCGATAAGCTTTCAATAGTGGCATACCAAATGGCACTTTTGATGAAATAAAATATCAATATTTTCTGCAATCCAATGCACTGATGTGTG
AAGTGAGAACTCCATCAGAAAACCAAAGGGTGCTAGGAGGTGTGGGTGCCTTCCATACTGTTTGCCCATTTTCATTCTTGTATTATAATT
AATTTTCTACCCCCAGAGATAAATGTTTGTTTATATCACTGTCTAGCTGTTTCAAAATTTAGGTCCCTTGGTCTGTACAAATAATAGCAA
TGTAAAAATGGTTTTTTGAACCTCCAAATGGAATTACAGACTCAGTAGCCATATCTTCCAACCCCCCAGTATAAATTTCTGTCTTTCTGC
TATGTGTGGTACTTTGCAGCTGCTTTTGCAGAAATCACAATTTTCCTGTGGAATAAAGATGGTCCAAAAATAGTCAAAAATTAAATATAT
ATATATATTAGTAATTTATATAGATGTCAGCAATTAGGCAGATCAAGGTTTAGTTTAACTTCCACTGTTAAAATAAAGCTTACATAGTTT
TCTTCCTTTGAAAGACTGTGCTGTCCTTTAACATAGGTTTTTAAAGACTAGGATATTGAATGTGAAACATCCGTTTTCATTGTTCACTTC
TAAACCAAAAATTATGTGTTGCCAAAACCAAACCCAGGTTCATGAATATGGTGTCTATTATAGTGAAACATGTACTTTGAGCTTATTGTT
TTTATTCTGTATTAAATATTTTCAGGGTTTTAAACACTAATCACAAACTGAATGACTTGACTTCAAAAGCAACAACCTTAAAGGCCGTCA
TTTCATTAGTATTCCTCATTCTGCATCCTGGCTTGAAAAACAGCTCTGTTGAATCACAGTATCAGTATTTTCACACGTAAGCACATTCGG
GCCATTTCCGTGGTTTCTCATGAGCTGTGTTCACAGACCTCAGCAGGGCATCGCATGGACCGCAGGAGGGCAGATTCGGACCACTAGGCC
TGAAATGACATTTCACTAAAAGTCTCCAAAACATTTCTAAGACTACTAAGGCCTTTTATGTAATTTCTTTAAATGTGTATTTCTTAAGAA
TTCAAATTTGTAATAAAACTATTTGTATAAAAATTAAGCTTTTATTAATTTGTTGCTAGTATTGCCACAGACGCATTAAAAGAAACTTAC

>90516_90516_1_TGM2-COL4A1_TGM2_chr20_36770466_ENST00000361475_COL4A1_chr13_110802791_ENST00000375820_length(amino acids)=374AA_BP=348
MEGLAASGRSHRPRPTMAEELVLERCDLELETNGRDHHTADLCREKLVVRRGQPFWLTLHFEGRNYEASVDSLTFSVVTGPAPSQEAGTK
ARFPLRDAVEEGDWTATVVDQQDCTLSLQLTTPANAPIGLYRLSLEASTGYQGSSFVLGHFILLFNAWCPADAVYLDSEEERQEYVLTQQ
GFIYQGSAKFIKNIPWNFGQFEDGILDICLILLDVNPKFLKNAGRDCSRRSSPVYVGRVVSGMVNCNDDQGVLLGRWDNNYGDGVSPMSW
IGSVDILRRWKNHGCQRVKYGQCWVFAAVACTVLRCLGIPTRVVTNYNSAHDQNSNLLIEYFRNEFGEIQGDKSEMIWKPTPSTLKAGEL

--------------------------------------------------------------
>90516_90516_2_TGM2-COL4A1_TGM2_chr20_36770466_ENST00000536701_COL4A1_chr13_110802791_ENST00000375820_length(transcript)=2298nt_BP=824nt
AGTGCCAGCCGCCAGTGGTCGCACTTGGAGGGTCTCGCCGCCAGTGGAAGGAGCCACCGCCCCCGCCCGACCATGGCCGAGGAGCTGGTC
TTAGAGAGGTGTGATCTGGAGCTGGAGACCAATGGCCGAGACCACCACACGGCCGACCTGTGCCGGGAGAAGCTGGTGGTGCGACGGGGC
CAGCCCTTCTGGCTGACCCTGCACTTTGAGGGCCGCAACTACGAGGCCAGTGTAGACAGTCTCACCTTCAGTGTCGTGACCGCGGATGCT
GTGTACCTGGACTCGGAAGAGGAGCGGCAGGAGTATGTCCTCACCCAGCAGGGCTTTATCTACCAGGGCTCGGCCAAGTTCATCAAGAAC
ATACCTTGGAATTTTGGGCAGTTTGAAGATGGGATCCTAGACATCTGCCTGATCCTTCTAGATGTCAACCCCAAGTTCCTGAAGAACGCC
GGCCGTGACTGCTCCCGCCGCAGCAGCCCCGTCTACGTGGGCCGGGTGGTGAGTGGCATGGTCAACTGCAACGATGACCAGGGTGTGCTG
CTGGGACGCTGGGACAACAACTACGGGGACGGCGTCAGCCCCATGTCCTGGATCGGCAGCGTGGACATCCTGCGGCGCTGGAAGAACCAC
GGCTGCCAGCGCGTCAAGTATGGCCAGTGCTGGGTCTTCGCCGCCGTGGCCTGCACAGTGCTGAGGTGCCTGGGCATCCCTACCCGCGTC
GTGACCAACTACAACTCGGCCCATGACCAGAACAGCAACCTTCTCATCGAGTACTTCCGCAATGAGTTTGGGGAGATCCAGGGTGACAAG
AGCGAGATGATCTGGAAGCCTACGCCGTCCACCTTGAAGGCAGGGGAGCTGCGCACGCACGTCAGCCGCTGCCAAGTCTGTATGAGAAGA
ACATAATGAAGCCTGACTCAGCTAATGTCACAACATGGTGCTACTTCTTCTTCTTTTTGTTAACAGCAACGAACCCTAGAAATATATCCT
GTGTACCTCACTGTCCAATATGAAAACCGTAAAGTGCCTTATAGGAATTTGCGTAACTAACACACCCTGCTTCATTGACCTCTACTTGCT
GAAGGAGAAAAAGACAGCGATAAGCTTTCAATAGTGGCATACCAAATGGCACTTTTGATGAAATAAAATATCAATATTTTCTGCAATCCA
ATGCACTGATGTGTGAAGTGAGAACTCCATCAGAAAACCAAAGGGTGCTAGGAGGTGTGGGTGCCTTCCATACTGTTTGCCCATTTTCAT
TCTTGTATTATAATTAATTTTCTACCCCCAGAGATAAATGTTTGTTTATATCACTGTCTAGCTGTTTCAAAATTTAGGTCCCTTGGTCTG
TACAAATAATAGCAATGTAAAAATGGTTTTTTGAACCTCCAAATGGAATTACAGACTCAGTAGCCATATCTTCCAACCCCCCAGTATAAA
TTTCTGTCTTTCTGCTATGTGTGGTACTTTGCAGCTGCTTTTGCAGAAATCACAATTTTCCTGTGGAATAAAGATGGTCCAAAAATAGTC
AAAAATTAAATATATATATATATTAGTAATTTATATAGATGTCAGCAATTAGGCAGATCAAGGTTTAGTTTAACTTCCACTGTTAAAATA
AAGCTTACATAGTTTTCTTCCTTTGAAAGACTGTGCTGTCCTTTAACATAGGTTTTTAAAGACTAGGATATTGAATGTGAAACATCCGTT
TTCATTGTTCACTTCTAAACCAAAAATTATGTGTTGCCAAAACCAAACCCAGGTTCATGAATATGGTGTCTATTATAGTGAAACATGTAC
TTTGAGCTTATTGTTTTTATTCTGTATTAAATATTTTCAGGGTTTTAAACACTAATCACAAACTGAATGACTTGACTTCAAAAGCAACAA
CCTTAAAGGCCGTCATTTCATTAGTATTCCTCATTCTGCATCCTGGCTTGAAAAACAGCTCTGTTGAATCACAGTATCAGTATTTTCACA
CGTAAGCACATTCGGGCCATTTCCGTGGTTTCTCATGAGCTGTGTTCACAGACCTCAGCAGGGCATCGCATGGACCGCAGGAGGGCAGAT
TCGGACCACTAGGCCTGAAATGACATTTCACTAAAAGTCTCCAAAACATTTCTAAGACTACTAAGGCCTTTTATGTAATTTCTTTAAATG
TGTATTTCTTAAGAATTCAAATTTGTAATAAAACTATTTGTATAAAAATTAAGCTTTTATTAATTTGTTGCTAGTATTGCCACAGACGCA

>90516_90516_2_TGM2-COL4A1_TGM2_chr20_36770466_ENST00000536701_COL4A1_chr13_110802791_ENST00000375820_length(amino acids)=293AA_BP=267
MEGLAASGRSHRPRPTMAEELVLERCDLELETNGRDHHTADLCREKLVVRRGQPFWLTLHFEGRNYEASVDSLTFSVVTADAVYLDSEEE
RQEYVLTQQGFIYQGSAKFIKNIPWNFGQFEDGILDICLILLDVNPKFLKNAGRDCSRRSSPVYVGRVVSGMVNCNDDQGVLLGRWDNNY
GDGVSPMSWIGSVDILRRWKNHGCQRVKYGQCWVFAAVACTVLRCLGIPTRVVTNYNSAHDQNSNLLIEYFRNEFGEIQGDKSEMIWKPT

--------------------------------------------------------------
>90516_90516_3_TGM2-COL4A1_TGM2_chr20_36770466_ENST00000536724_COL4A1_chr13_110802791_ENST00000375820_length(transcript)=2361nt_BP=887nt
AGTGCCAGCCGCCAGTGGTCGCACTTGGAGGGTCTCGCCGCCAGTGGAAGGAGCCACCGCCCCCGCCCGACCATGGCCGAGGGCCCAGCC
CCTAGCCAGGAGGCCGGGACCAAGGCCCGTTTTCCACTAAGAGATGCTGTGGAGGAGGGTGACTGGACAGCCACCGTGGTGGACCAGCAA
GACTGCACCCTCTCGCTGCAGCTCACCACCCCGGCCAACGCCCCCATCGGCCTGTATCGCCTCAGCCTGGAGGCCTCCACTGGCTACCAG
GGATCCAGCTTTGTGCTGGGCCACTTCATTTTGCTCTTCAACGCCTGGTGCCCAGCGGATGCTGTGTACCTGGACTCGGAAGAGGAGCGG
CAGGAGTATGTCCTCACCCAGCAGGGCTTTATCTACCAGGGCTCGGCCAAGTTCATCAAGAACATACCTTGGAATTTTGGGCAGTTTGAA
GATGGGATCCTAGACATCTGCCTGATCCTTCTAGATGTCAACCCCAAGTTCCTGAAGAACGCCGGCCGTGACTGCTCCCGCCGCAGCAGC
CCCGTCTACGTGGGCCGGGTGGTGAGTGGCATGGTCAACTGCAACGATGACCAGGGTGTGCTGCTGGGACGCTGGGACAACAACTACGGG
GACGGCGTCAGCCCCATGTCCTGGATCGGCAGCGTGGACATCCTGCGGCGCTGGAAGAACCACGGCTGCCAGCGCGTCAAGTATGGCCAG
TGCTGGGTCTTCGCCGCCGTGGCCTGCACAGTGCTGAGGTGCCTGGGCATCCCTACCCGCGTCGTGACCAACTACAACTCGGCCCATGAC
CAGAACAGCAACCTTCTCATCGAGTACTTCCGCAATGAGTTTGGGGAGATCCAGGGTGACAAGAGCGAGATGATCTGGAAGCCTACGCCG
TCCACCTTGAAGGCAGGGGAGCTGCGCACGCACGTCAGCCGCTGCCAAGTCTGTATGAGAAGAACATAATGAAGCCTGACTCAGCTAATG
TCACAACATGGTGCTACTTCTTCTTCTTTTTGTTAACAGCAACGAACCCTAGAAATATATCCTGTGTACCTCACTGTCCAATATGAAAAC
CGTAAAGTGCCTTATAGGAATTTGCGTAACTAACACACCCTGCTTCATTGACCTCTACTTGCTGAAGGAGAAAAAGACAGCGATAAGCTT
TCAATAGTGGCATACCAAATGGCACTTTTGATGAAATAAAATATCAATATTTTCTGCAATCCAATGCACTGATGTGTGAAGTGAGAACTC
CATCAGAAAACCAAAGGGTGCTAGGAGGTGTGGGTGCCTTCCATACTGTTTGCCCATTTTCATTCTTGTATTATAATTAATTTTCTACCC
CCAGAGATAAATGTTTGTTTATATCACTGTCTAGCTGTTTCAAAATTTAGGTCCCTTGGTCTGTACAAATAATAGCAATGTAAAAATGGT
TTTTTGAACCTCCAAATGGAATTACAGACTCAGTAGCCATATCTTCCAACCCCCCAGTATAAATTTCTGTCTTTCTGCTATGTGTGGTAC
TTTGCAGCTGCTTTTGCAGAAATCACAATTTTCCTGTGGAATAAAGATGGTCCAAAAATAGTCAAAAATTAAATATATATATATATTAGT
AATTTATATAGATGTCAGCAATTAGGCAGATCAAGGTTTAGTTTAACTTCCACTGTTAAAATAAAGCTTACATAGTTTTCTTCCTTTGAA
AGACTGTGCTGTCCTTTAACATAGGTTTTTAAAGACTAGGATATTGAATGTGAAACATCCGTTTTCATTGTTCACTTCTAAACCAAAAAT
TATGTGTTGCCAAAACCAAACCCAGGTTCATGAATATGGTGTCTATTATAGTGAAACATGTACTTTGAGCTTATTGTTTTTATTCTGTAT
TAAATATTTTCAGGGTTTTAAACACTAATCACAAACTGAATGACTTGACTTCAAAAGCAACAACCTTAAAGGCCGTCATTTCATTAGTAT
TCCTCATTCTGCATCCTGGCTTGAAAAACAGCTCTGTTGAATCACAGTATCAGTATTTTCACACGTAAGCACATTCGGGCCATTTCCGTG
GTTTCTCATGAGCTGTGTTCACAGACCTCAGCAGGGCATCGCATGGACCGCAGGAGGGCAGATTCGGACCACTAGGCCTGAAATGACATT
TCACTAAAAGTCTCCAAAACATTTCTAAGACTACTAAGGCCTTTTATGTAATTTCTTTAAATGTGTATTTCTTAAGAATTCAAATTTGTA
ATAAAACTATTTGTATAAAAATTAAGCTTTTATTAATTTGTTGCTAGTATTGCCACAGACGCATTAAAAGAAACTTACTGCACAAGCTGC

>90516_90516_3_TGM2-COL4A1_TGM2_chr20_36770466_ENST00000536724_COL4A1_chr13_110802791_ENST00000375820_length(amino acids)=314AA_BP=288
MEGLAASGRSHRPRPTMAEGPAPSQEAGTKARFPLRDAVEEGDWTATVVDQQDCTLSLQLTTPANAPIGLYRLSLEASTGYQGSSFVLGH
FILLFNAWCPADAVYLDSEEERQEYVLTQQGFIYQGSAKFIKNIPWNFGQFEDGILDICLILLDVNPKFLKNAGRDCSRRSSPVYVGRVV
SGMVNCNDDQGVLLGRWDNNYGDGVSPMSWIGSVDILRRWKNHGCQRVKYGQCWVFAAVACTVLRCLGIPTRVVTNYNSAHDQNSNLLIE

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Fusion Gene PPI Analysis for TGM2-COL4A1


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 TGM2-COL4A1


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 TGM2-COL4A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTGM2C0005586Bipolar Disorder2PSYGENET
HgeneTGM2C0017636Glioblastoma2CTD_human
HgeneTGM2C0036341Schizophrenia2PSYGENET
HgeneTGM2C0334588Giant Cell Glioblastoma2CTD_human
HgeneTGM2C1621958Glioblastoma Multiforme2CTD_human
HgeneTGM2C0006118Brain Neoplasms1CTD_human
HgeneTGM2C0006142Malignant neoplasm of breast1CTD_human
HgeneTGM2C0007134Renal Cell Carcinoma1CTD_human
HgeneTGM2C0007570Celiac Disease1CTD_human
HgeneTGM2C0014859Esophageal Neoplasms1CTD_human
HgeneTGM2C0020538Hypertensive disease1CTD_human
HgeneTGM2C0029408Degenerative polyarthritis1CTD_human
HgeneTGM2C0030297Pancreatic Neoplasm1CTD_human
HgeneTGM2C0086743Osteoarthrosis Deformans1CTD_human
HgeneTGM2C0153633Malignant neoplasm of brain1CTD_human
HgeneTGM2C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneTGM2C0346647Malignant neoplasm of pancreas1CTD_human
HgeneTGM2C0496899Benign neoplasm of brain, unspecified1CTD_human
HgeneTGM2C0546837Malignant neoplasm of esophagus1CTD_human
HgeneTGM2C0678222Breast Carcinoma1CTD_human
HgeneTGM2C0750974Brain Tumor, Primary1CTD_human
HgeneTGM2C0750977Recurrent Brain Neoplasm1CTD_human
HgeneTGM2C0750979Primary malignant neoplasm of brain1CTD_human
HgeneTGM2C1257931Mammary Neoplasms, Human1CTD_human
HgeneTGM2C1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneTGM2C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneTGM2C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneTGM2C1306837Papillary Renal Cell Carcinoma1CTD_human
HgeneTGM2C1458155Mammary Neoplasms1CTD_human
HgeneTGM2C1527390Neoplasms, Intracranial1CTD_human
HgeneTGM2C4704874Mammary Carcinoma, Human1CTD_human
TgeneC4551998Porencephaly, Type 1, Autosomal Dominant18CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC2673195Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1843512BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE4CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0018965Hematuria3GENOMICS_ENGLAND
TgeneC0266548Axenfeld anomaly (disorder)3CTD_human;GENOMICS_ENGLAND
TgeneC1860475Retinal vascular tortuosity3GENOMICS_ENGLAND
TgeneC0011881Diabetic Nephropathy2CTD_human
TgeneC0017667Nodular glomerulosclerosis2CTD_human
TgeneC0017668Focal glomerulosclerosis2CTD_human
TgeneC0086432Hyalinosis, Segmental Glomerular2CTD_human
TgeneC0265341Rieger syndrome2CTD_human
TgeneC0266484Schizencephaly2CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0302892Congenital porencephaly2CTD_human
TgeneC1280768Axenfeld syndrome2CTD_human
TgeneC1867983PORENCEPHALY, FAMILIAL2CTD_human;ORPHANET
TgeneC2675650Brain Small Vessel Disease With Axenfeld-Rieger Anomaly2CTD_human
TgeneC2678503AXENFELD-RIEGER SYNDROME, TYPE 32CTD_human
TgeneC3281105HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO2GENOMICS_ENGLAND;UNIPROT
TgeneC3495488Axenfeld-Rieger syndrome2CTD_human
TgeneC3698507Post-traumatic Porencephaly2CTD_human
TgeneC3714873Axenfeld-Rieger Syndrome, Type 12CTD_human
TgeneC4082173Porencephaly2CTD_human
TgeneC4082301Developmental Porencephaly2CTD_human
TgeneC0002878Anemia, Hemolytic1CTD_human
TgeneC0002879Anemia, Hemolytic, Acquired1CTD_human
TgeneC0002889Anemia, Microangiopathic1CTD_human
TgeneC0015393Eye Abnormalities1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0026848Myopathy1GENOMICS_ENGLAND
TgeneC0027726Nephrotic Syndrome1CTD_human
TgeneC0036572Seizures1GENOMICS_ENGLAND
TgeneC0038454Cerebrovascular accident1GENOMICS_ENGLAND
TgeneC0149931Migraine Disorders1GENOMICS_ENGLAND
TgeneC0221021Microangiopathic hemolytic anemia1CTD_human
TgeneC0265221Walker-Warburg congenital muscular dystrophy1ORPHANET
TgeneC0270612Leukoencephalopathy1CTD_human
TgeneC0338656Impaired cognition1GENOMICS_ENGLAND
TgeneC0424605Developmental delay (disorder)1GENOMICS_ENGLAND
TgeneC0497327Dementia1GENOMICS_ENGLAND
TgeneC0557874Global developmental delay1GENOMICS_ENGLAND
TgeneC1135196Heart Failure, Diastolic1CTD_human
TgeneC1858991Childhood Ataxia with Central Nervous System Hypomyelinization1CTD_human
TgeneC1867327RETINAL ARTERIES, TORTUOSITY OF1CTD_human;ORPHANET;UNIPROT
TgeneC2733158Cerebral Small Vessel Diseases1GENOMICS_ENGLAND
TgeneC2930808Familial vascular leukoencephalopathy1ORPHANET
TgeneC2931870Familial schizencephaly1ORPHANET
TgeneC4013035BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES1GENOMICS_ENGLAND