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Center for Computational Systems Medicine level1
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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-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:TNNT3-COL1A1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: TNNT3-COL1A1
FusionPDB ID: 92776
FusionGDB2.0 ID: 92776
HgeneTgene
Gene symbol

TNNT3

COL1A1

Gene ID

7140

1277

Gene nametroponin T3, fast skeletal typecollagen type I alpha 1 chain
SynonymsDA2B2|TNTF|beta-TnTFCAFYD|EDSARTH1|EDSC|OI1|OI2|OI3|OI4
Cytomap

11p15.5

17q21.33

Type of geneprotein-codingprotein-coding
Descriptiontroponin T, fast skeletal muscletroponin T type 3 (skeletal, fast)collagen alpha-1(I) chainalpha-1 type I collagenalpha1(I) procollagencollagen alpha 1 chain type Icollagen alpha-1(I) chain preproproteincollagen of skin, tendon and bone, alpha-1 chaincollagen, type I, alpha 1pro-alpha-1 collagen type 1type I pro
Modification date2020031320200322
UniProtAcc.

P02452

Ensembl transtripts involved in fusion geneENST idsENST00000493234, ENST00000278317, 
ENST00000360603, ENST00000381548, 
ENST00000381549, ENST00000381558, 
ENST00000381561, ENST00000381579, 
ENST00000381589, ENST00000397301, 
ENST00000397304, ENST00000446240, 
ENST00000225964, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score2 X 2 X 2=844 X 105 X 13=60060
# samples 280
** MAII scorelog2(2/8*10)=1.32192809488736log2(80/60060*10)=-6.23026066466979
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: TNNT3 [Title/Abstract] AND COL1A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)TNNT3(1956115)-COL1A1(48275355), # samples:1
Anticipated loss of major functional domain due to fusion event.TNNT3-COL1A1 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.
TNNT3-COL1A1 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
HgeneTNNT3

GO:0003009

skeletal muscle contraction

17194691

HgeneTNNT3

GO:0006942

regulation of striated muscle contraction

17194691

HgeneTNNT3

GO:0043462

regulation of ATPase activity

17194691

TgeneCOL1A1

GO:0010718

positive regulation of epithelial to mesenchymal transition

20018240

TgeneCOL1A1

GO:0030335

positive regulation of cell migration

20018240

TgeneCOL1A1

GO:0034504

protein localization to nucleus

20018240

TgeneCOL1A1

GO:0045893

positive regulation of transcription, DNA-templated

20018240

TgeneCOL1A1

GO:0090263

positive regulation of canonical Wnt signaling pathway

20018240


check buttonFusion gene breakpoints across TNNT3 (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 COL1A1 (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
ChimerDB4HNSCTCGA-CN-6017-01ATNNT3chr11

1956115

+COL1A1chr17

48275355

-


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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)
ENST00000278317TNNT3chr111956115+ENST00000225964COL1A1chr1748275355-685584339056832975
ENST00000360603TNNT3chr111956115+ENST00000225964COL1A1chr1748275355-683081838806807975
ENST00000381561TNNT3chr111956115+ENST00000225964COL1A1chr1748275355-685784539076834975
ENST00000381549TNNT3chr111956115+ENST00000225964COL1A1chr1748275355-682481238746801975
ENST00000381548TNNT3chr111956115+ENST00000225964COL1A1chr1748275355-685484239046831975
ENST00000381579TNNT3chr111956115+ENST00000225964COL1A1chr1748275355-668767537376664975
ENST00000381589TNNT3chr111956115+ENST00000225964COL1A1chr1748275355-670569337556682975
ENST00000381558TNNT3chr111956115+ENST00000225964COL1A1chr1748275355-689187939416868975
ENST00000397301TNNT3chr111956115+ENST00000225964COL1A1chr1748275355-667766537276654975
ENST00000446240TNNT3chr111956115+ENST00000225964COL1A1chr1748275355-657956736296556975
ENST00000397304TNNT3chr111956115+ENST00000225964COL1A1chr1748275355-657956736296556975

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
ENST00000278317ENST00000225964TNNT3chr111956115+COL1A1chr1748275355-0.618450460.38154948
ENST00000360603ENST00000225964TNNT3chr111956115+COL1A1chr1748275355-0.60433950.3956605
ENST00000381561ENST00000225964TNNT3chr111956115+COL1A1chr1748275355-0.606194440.39380562
ENST00000381549ENST00000225964TNNT3chr111956115+COL1A1chr1748275355-0.61291040.38708964
ENST00000381548ENST00000225964TNNT3chr111956115+COL1A1chr1748275355-0.609439250.39056075
ENST00000381579ENST00000225964TNNT3chr111956115+COL1A1chr1748275355-0.570574050.42942593
ENST00000381589ENST00000225964TNNT3chr111956115+COL1A1chr1748275355-0.558287740.4417123
ENST00000381558ENST00000225964TNNT3chr111956115+COL1A1chr1748275355-0.64248140.35751864
ENST00000397301ENST00000225964TNNT3chr111956115+COL1A1chr1748275355-0.52977310.47022688
ENST00000446240ENST00000225964TNNT3chr111956115+COL1A1chr1748275355-0.52714450.47285554
ENST00000397304ENST00000225964TNNT3chr111956115+COL1A1chr1748275355-0.52714450.47285554

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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

>92776_92776_1_TNNT3-COL1A1_TNNT3_chr11_1956115_ENST00000278317_COL1A1_chr17_48275355_ENST00000225964_length(amino acids)=975AA_BP=522
MTGRVGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGSPGEQGPSGASGPAGPRGPQGPRGDKGETGEQGDRGIKGHRGFSGLQG
PPGPPGPAGPTGPVGPVGARGPAGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGAPGAEGSPGRDGSPGAKGEPGKQGPSGASG
ERGPPGPMGPPGLAGPPGESGREGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGNAGPPGPPGPAGKEGGKGPRGETGPAGRPG
EVGPPGPPGPAGEKGSPGADGPAGATGFPGAAGRVGPPGPSGNVGAPGAKGARGSAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAG
PPGPIGDRGEPGPPGPAGFAGPPGESGPSGPAGPTGARGAPGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGDAGAPGAPGSQG
APGLQGMPGERGAAGLPGPKGDRGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGVPGDLGAPGPSGARGLPGPAGPPGEAGKPGEQG
PAGERGEQGPAGSPGFQGPAGKDGEAGAQGPPGPAGEPGKAGERGVPGPPGAVGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGLTG
SPGSPGPDGKTGPPGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGGPGSRGFPGADGVAGPKGPVGVQGPPGPAGEEGKRGARGEPG
PTGLPGPPGERGEPGAPGSKGDTGAKGEPGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGNPGADGQPGAKGANGEAGPQGPRGSEG
PQGVRGEPGPPGPAGAAGPAGPTGPAGPPGFPGAVGAKGARGNDGATGAAGPPGPRGLPGERGRPGAPGPAGEPGSPGENGAPGQMGFSG

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>92776_92776_2_TNNT3-COL1A1_TNNT3_chr11_1956115_ENST00000360603_COL1A1_chr17_48275355_ENST00000225964_length(amino acids)=975AA_BP=522
MTGRVGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGSPGEQGPSGASGPAGPRGPQGPRGDKGETGEQGDRGIKGHRGFSGLQG
PPGPPGPAGPTGPVGPVGARGPAGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGAPGAEGSPGRDGSPGAKGEPGKQGPSGASG
ERGPPGPMGPPGLAGPPGESGREGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGNAGPPGPPGPAGKEGGKGPRGETGPAGRPG
EVGPPGPPGPAGEKGSPGADGPAGATGFPGAAGRVGPPGPSGNVGAPGAKGARGSAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAG
PPGPIGDRGEPGPPGPAGFAGPPGESGPSGPAGPTGARGAPGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGDAGAPGAPGSQG
APGLQGMPGERGAAGLPGPKGDRGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGVPGDLGAPGPSGARGLPGPAGPPGEAGKPGEQG
PAGERGEQGPAGSPGFQGPAGKDGEAGAQGPPGPAGEPGKAGERGVPGPPGAVGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGLTG
SPGSPGPDGKTGPPGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGGPGSRGFPGADGVAGPKGPVGVQGPPGPAGEEGKRGARGEPG
PTGLPGPPGERGEPGAPGSKGDTGAKGEPGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGNPGADGQPGAKGANGEAGPQGPRGSEG
PQGVRGEPGPPGPAGAAGPAGPTGPAGPPGFPGAVGAKGARGNDGATGAAGPPGPRGLPGERGRPGAPGPAGEPGSPGENGAPGQMGFSG

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

>92776_92776_3_TNNT3-COL1A1_TNNT3_chr11_1956115_ENST00000381548_COL1A1_chr17_48275355_ENST00000225964_length(amino acids)=975AA_BP=522
MTGRVGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGSPGEQGPSGASGPAGPRGPQGPRGDKGETGEQGDRGIKGHRGFSGLQG
PPGPPGPAGPTGPVGPVGARGPAGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGAPGAEGSPGRDGSPGAKGEPGKQGPSGASG
ERGPPGPMGPPGLAGPPGESGREGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGNAGPPGPPGPAGKEGGKGPRGETGPAGRPG
EVGPPGPPGPAGEKGSPGADGPAGATGFPGAAGRVGPPGPSGNVGAPGAKGARGSAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAG
PPGPIGDRGEPGPPGPAGFAGPPGESGPSGPAGPTGARGAPGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGDAGAPGAPGSQG
APGLQGMPGERGAAGLPGPKGDRGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGVPGDLGAPGPSGARGLPGPAGPPGEAGKPGEQG
PAGERGEQGPAGSPGFQGPAGKDGEAGAQGPPGPAGEPGKAGERGVPGPPGAVGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGLTG
SPGSPGPDGKTGPPGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGGPGSRGFPGADGVAGPKGPVGVQGPPGPAGEEGKRGARGEPG
PTGLPGPPGERGEPGAPGSKGDTGAKGEPGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGNPGADGQPGAKGANGEAGPQGPRGSEG
PQGVRGEPGPPGPAGAAGPAGPTGPAGPPGFPGAVGAKGARGNDGATGAAGPPGPRGLPGERGRPGAPGPAGEPGSPGENGAPGQMGFSG

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

>92776_92776_4_TNNT3-COL1A1_TNNT3_chr11_1956115_ENST00000381549_COL1A1_chr17_48275355_ENST00000225964_length(amino acids)=975AA_BP=522
MTGRVGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGSPGEQGPSGASGPAGPRGPQGPRGDKGETGEQGDRGIKGHRGFSGLQG
PPGPPGPAGPTGPVGPVGARGPAGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGAPGAEGSPGRDGSPGAKGEPGKQGPSGASG
ERGPPGPMGPPGLAGPPGESGREGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGNAGPPGPPGPAGKEGGKGPRGETGPAGRPG
EVGPPGPPGPAGEKGSPGADGPAGATGFPGAAGRVGPPGPSGNVGAPGAKGARGSAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAG
PPGPIGDRGEPGPPGPAGFAGPPGESGPSGPAGPTGARGAPGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGDAGAPGAPGSQG
APGLQGMPGERGAAGLPGPKGDRGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGVPGDLGAPGPSGARGLPGPAGPPGEAGKPGEQG
PAGERGEQGPAGSPGFQGPAGKDGEAGAQGPPGPAGEPGKAGERGVPGPPGAVGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGLTG
SPGSPGPDGKTGPPGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGGPGSRGFPGADGVAGPKGPVGVQGPPGPAGEEGKRGARGEPG
PTGLPGPPGERGEPGAPGSKGDTGAKGEPGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGNPGADGQPGAKGANGEAGPQGPRGSEG
PQGVRGEPGPPGPAGAAGPAGPTGPAGPPGFPGAVGAKGARGNDGATGAAGPPGPRGLPGERGRPGAPGPAGEPGSPGENGAPGQMGFSG

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

>92776_92776_5_TNNT3-COL1A1_TNNT3_chr11_1956115_ENST00000381558_COL1A1_chr17_48275355_ENST00000225964_length(amino acids)=975AA_BP=522
MTGRVGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGSPGEQGPSGASGPAGPRGPQGPRGDKGETGEQGDRGIKGHRGFSGLQG
PPGPPGPAGPTGPVGPVGARGPAGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGAPGAEGSPGRDGSPGAKGEPGKQGPSGASG
ERGPPGPMGPPGLAGPPGESGREGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGNAGPPGPPGPAGKEGGKGPRGETGPAGRPG
EVGPPGPPGPAGEKGSPGADGPAGATGFPGAAGRVGPPGPSGNVGAPGAKGARGSAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAG
PPGPIGDRGEPGPPGPAGFAGPPGESGPSGPAGPTGARGAPGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGDAGAPGAPGSQG
APGLQGMPGERGAAGLPGPKGDRGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGVPGDLGAPGPSGARGLPGPAGPPGEAGKPGEQG
PAGERGEQGPAGSPGFQGPAGKDGEAGAQGPPGPAGEPGKAGERGVPGPPGAVGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGLTG
SPGSPGPDGKTGPPGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGGPGSRGFPGADGVAGPKGPVGVQGPPGPAGEEGKRGARGEPG
PTGLPGPPGERGEPGAPGSKGDTGAKGEPGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGNPGADGQPGAKGANGEAGPQGPRGSEG
PQGVRGEPGPPGPAGAAGPAGPTGPAGPPGFPGAVGAKGARGNDGATGAAGPPGPRGLPGERGRPGAPGPAGEPGSPGENGAPGQMGFSG

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

>92776_92776_6_TNNT3-COL1A1_TNNT3_chr11_1956115_ENST00000381561_COL1A1_chr17_48275355_ENST00000225964_length(amino acids)=975AA_BP=522
MTGRVGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGSPGEQGPSGASGPAGPRGPQGPRGDKGETGEQGDRGIKGHRGFSGLQG
PPGPPGPAGPTGPVGPVGARGPAGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGAPGAEGSPGRDGSPGAKGEPGKQGPSGASG
ERGPPGPMGPPGLAGPPGESGREGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGNAGPPGPPGPAGKEGGKGPRGETGPAGRPG
EVGPPGPPGPAGEKGSPGADGPAGATGFPGAAGRVGPPGPSGNVGAPGAKGARGSAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAG
PPGPIGDRGEPGPPGPAGFAGPPGESGPSGPAGPTGARGAPGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGDAGAPGAPGSQG
APGLQGMPGERGAAGLPGPKGDRGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGVPGDLGAPGPSGARGLPGPAGPPGEAGKPGEQG
PAGERGEQGPAGSPGFQGPAGKDGEAGAQGPPGPAGEPGKAGERGVPGPPGAVGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGLTG
SPGSPGPDGKTGPPGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGGPGSRGFPGADGVAGPKGPVGVQGPPGPAGEEGKRGARGEPG
PTGLPGPPGERGEPGAPGSKGDTGAKGEPGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGNPGADGQPGAKGANGEAGPQGPRGSEG
PQGVRGEPGPPGPAGAAGPAGPTGPAGPPGFPGAVGAKGARGNDGATGAAGPPGPRGLPGERGRPGAPGPAGEPGSPGENGAPGQMGFSG

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>92776_92776_7_TNNT3-COL1A1_TNNT3_chr11_1956115_ENST00000381579_COL1A1_chr17_48275355_ENST00000225964_length(amino acids)=975AA_BP=522
MTGRVGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGSPGEQGPSGASGPAGPRGPQGPRGDKGETGEQGDRGIKGHRGFSGLQG
PPGPPGPAGPTGPVGPVGARGPAGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGAPGAEGSPGRDGSPGAKGEPGKQGPSGASG
ERGPPGPMGPPGLAGPPGESGREGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGNAGPPGPPGPAGKEGGKGPRGETGPAGRPG
EVGPPGPPGPAGEKGSPGADGPAGATGFPGAAGRVGPPGPSGNVGAPGAKGARGSAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAG
PPGPIGDRGEPGPPGPAGFAGPPGESGPSGPAGPTGARGAPGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGDAGAPGAPGSQG
APGLQGMPGERGAAGLPGPKGDRGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGVPGDLGAPGPSGARGLPGPAGPPGEAGKPGEQG
PAGERGEQGPAGSPGFQGPAGKDGEAGAQGPPGPAGEPGKAGERGVPGPPGAVGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGLTG
SPGSPGPDGKTGPPGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGGPGSRGFPGADGVAGPKGPVGVQGPPGPAGEEGKRGARGEPG
PTGLPGPPGERGEPGAPGSKGDTGAKGEPGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGNPGADGQPGAKGANGEAGPQGPRGSEG
PQGVRGEPGPPGPAGAAGPAGPTGPAGPPGFPGAVGAKGARGNDGATGAAGPPGPRGLPGERGRPGAPGPAGEPGSPGENGAPGQMGFSG

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

>92776_92776_8_TNNT3-COL1A1_TNNT3_chr11_1956115_ENST00000381589_COL1A1_chr17_48275355_ENST00000225964_length(amino acids)=975AA_BP=522
MTGRVGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGSPGEQGPSGASGPAGPRGPQGPRGDKGETGEQGDRGIKGHRGFSGLQG
PPGPPGPAGPTGPVGPVGARGPAGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGAPGAEGSPGRDGSPGAKGEPGKQGPSGASG
ERGPPGPMGPPGLAGPPGESGREGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGNAGPPGPPGPAGKEGGKGPRGETGPAGRPG
EVGPPGPPGPAGEKGSPGADGPAGATGFPGAAGRVGPPGPSGNVGAPGAKGARGSAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAG
PPGPIGDRGEPGPPGPAGFAGPPGESGPSGPAGPTGARGAPGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGDAGAPGAPGSQG
APGLQGMPGERGAAGLPGPKGDRGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGVPGDLGAPGPSGARGLPGPAGPPGEAGKPGEQG
PAGERGEQGPAGSPGFQGPAGKDGEAGAQGPPGPAGEPGKAGERGVPGPPGAVGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGLTG
SPGSPGPDGKTGPPGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGGPGSRGFPGADGVAGPKGPVGVQGPPGPAGEEGKRGARGEPG
PTGLPGPPGERGEPGAPGSKGDTGAKGEPGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGNPGADGQPGAKGANGEAGPQGPRGSEG
PQGVRGEPGPPGPAGAAGPAGPTGPAGPPGFPGAVGAKGARGNDGATGAAGPPGPRGLPGERGRPGAPGPAGEPGSPGENGAPGQMGFSG

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

>92776_92776_9_TNNT3-COL1A1_TNNT3_chr11_1956115_ENST00000397301_COL1A1_chr17_48275355_ENST00000225964_length(amino acids)=975AA_BP=522
MTGRVGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGSPGEQGPSGASGPAGPRGPQGPRGDKGETGEQGDRGIKGHRGFSGLQG
PPGPPGPAGPTGPVGPVGARGPAGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGAPGAEGSPGRDGSPGAKGEPGKQGPSGASG
ERGPPGPMGPPGLAGPPGESGREGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGNAGPPGPPGPAGKEGGKGPRGETGPAGRPG
EVGPPGPPGPAGEKGSPGADGPAGATGFPGAAGRVGPPGPSGNVGAPGAKGARGSAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAG
PPGPIGDRGEPGPPGPAGFAGPPGESGPSGPAGPTGARGAPGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGDAGAPGAPGSQG
APGLQGMPGERGAAGLPGPKGDRGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGVPGDLGAPGPSGARGLPGPAGPPGEAGKPGEQG
PAGERGEQGPAGSPGFQGPAGKDGEAGAQGPPGPAGEPGKAGERGVPGPPGAVGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGLTG
SPGSPGPDGKTGPPGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGGPGSRGFPGADGVAGPKGPVGVQGPPGPAGEEGKRGARGEPG
PTGLPGPPGERGEPGAPGSKGDTGAKGEPGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGNPGADGQPGAKGANGEAGPQGPRGSEG
PQGVRGEPGPPGPAGAAGPAGPTGPAGPPGFPGAVGAKGARGNDGATGAAGPPGPRGLPGERGRPGAPGPAGEPGSPGENGAPGQMGFSG

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

>92776_92776_10_TNNT3-COL1A1_TNNT3_chr11_1956115_ENST00000397304_COL1A1_chr17_48275355_ENST00000225964_length(amino acids)=975AA_BP=522
MTGRVGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGSPGEQGPSGASGPAGPRGPQGPRGDKGETGEQGDRGIKGHRGFSGLQG
PPGPPGPAGPTGPVGPVGARGPAGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGAPGAEGSPGRDGSPGAKGEPGKQGPSGASG
ERGPPGPMGPPGLAGPPGESGREGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGNAGPPGPPGPAGKEGGKGPRGETGPAGRPG
EVGPPGPPGPAGEKGSPGADGPAGATGFPGAAGRVGPPGPSGNVGAPGAKGARGSAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAG
PPGPIGDRGEPGPPGPAGFAGPPGESGPSGPAGPTGARGAPGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGDAGAPGAPGSQG
APGLQGMPGERGAAGLPGPKGDRGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGVPGDLGAPGPSGARGLPGPAGPPGEAGKPGEQG
PAGERGEQGPAGSPGFQGPAGKDGEAGAQGPPGPAGEPGKAGERGVPGPPGAVGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGLTG
SPGSPGPDGKTGPPGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGGPGSRGFPGADGVAGPKGPVGVQGPPGPAGEEGKRGARGEPG
PTGLPGPPGERGEPGAPGSKGDTGAKGEPGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGNPGADGQPGAKGANGEAGPQGPRGSEG
PQGVRGEPGPPGPAGAAGPAGPTGPAGPPGFPGAVGAKGARGNDGATGAAGPPGPRGLPGERGRPGAPGPAGEPGSPGENGAPGQMGFSG

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

>92776_92776_11_TNNT3-COL1A1_TNNT3_chr11_1956115_ENST00000446240_COL1A1_chr17_48275355_ENST00000225964_length(amino acids)=975AA_BP=522
MTGRVGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGSPGEQGPSGASGPAGPRGPQGPRGDKGETGEQGDRGIKGHRGFSGLQG
PPGPPGPAGPTGPVGPVGARGPAGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGAPGAEGSPGRDGSPGAKGEPGKQGPSGASG
ERGPPGPMGPPGLAGPPGESGREGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGNAGPPGPPGPAGKEGGKGPRGETGPAGRPG
EVGPPGPPGPAGEKGSPGADGPAGATGFPGAAGRVGPPGPSGNVGAPGAKGARGSAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAG
PPGPIGDRGEPGPPGPAGFAGPPGESGPSGPAGPTGARGAPGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGDAGAPGAPGSQG
APGLQGMPGERGAAGLPGPKGDRGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGVPGDLGAPGPSGARGLPGPAGPPGEAGKPGEQG
PAGERGEQGPAGSPGFQGPAGKDGEAGAQGPPGPAGEPGKAGERGVPGPPGAVGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGLTG
SPGSPGPDGKTGPPGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGGPGSRGFPGADGVAGPKGPVGVQGPPGPAGEEGKRGARGEPG
PTGLPGPPGERGEPGAPGSKGDTGAKGEPGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGNPGADGQPGAKGANGEAGPQGPRGSEG
PQGVRGEPGPPGPAGAAGPAGPTGPAGPPGFPGAVGAKGARGNDGATGAAGPPGPRGLPGERGRPGAPGPAGEPGSPGENGAPGQMGFSG

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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/chr11:1956115/chr17:48275355)
- 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
.COL1A1

P02452

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: Type I collagen is a member of group I collagen (fibrillar forming collagen).

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
TgeneCOL1A1chr11:1956115chr17:48275355ENST000002259640511229_146401465.0DomainFibrillar collagen NC1
TgeneCOL1A1chr11:1956115chr17:48275355ENST0000022596405138_9601465.0DomainVWFC
TgeneCOL1A1chr11:1956115chr17:48275355ENST000002259640511093_109501465.0MotifCell attachment site
TgeneCOL1A1chr11:1956115chr17:48275355ENST00000225964051745_74701465.0MotifCell attachment site
TgeneCOL1A1chr11:1956115chr17:48275355ENST000002259640511193_121801465.0RegionNote=Nonhelical region (C-terminal)
TgeneCOL1A1chr11:1956115chr17:48275355ENST00000225964051162_17801465.0RegionNote=Nonhelical region (N-terminal)
TgeneCOL1A1chr11:1956115chr17:48275355ENST00000225964051179_119201465.0RegionNote=Triple-helical region

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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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
COL1A1IGFBP3, TXN, ITGA2, ITGB1, NID1, Nid1, NID2, SPARC, PRELP, PKD1, VWF, THBS1, MMP2, COL7A1, MATN2, MAG, ELAVL1, ATP13A2, C12orf57, RNH1, BARD1, BRCA1, UBC, CAPN1, COL1A1, COL1A2, PDGFA, PDGFB, GIPC2, UBXN11, DNM3, CD200R1, TMTC4, ERAL1, CAMKMT, TMEM180, OTUB1, EGFR, COLGALT2, P4HA2, PLOD1, LIN9, TIMM44, RASGEF1B, TLE3, YAF2, LPAR1, CYLD, MCPH1, HEXIM1, PPP1CC, KEAP1, PINK1, CDC42, NMRAL1, PAX3, NTPCR, FOXO1, IGLC1, DDX58, YIPF1, LAIR2, LAT, KIAA1191, SLC25A40, CTNND1, FOXD3, CHMP3, ZNF645, CD247, RANBP6, TRIM41, TNFRSF10D, KIR3DS1, SMDT1, PPIA, PEG10, TMEM44, RNF144A, VCP, TESPA1, ABHD14A, TADA1, ST3GAL3, KLF15, BGN, TGM2, COL18A1, NLRP7,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
TNNT3
COL1A1all 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 TNNT3-COL1A1


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 TNNT3-COL1A1


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
TgeneCOL1A1C0268358Osteogenesis imperfecta, dominant perinatal lethal38CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCOL1A1C0268362Osteogenesis imperfecta type III (disorder)17CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCOL1A1C0023931Lobstein Disease15CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCOL1A1C0268363Osteogenesis imperfecta type IV (disorder)12GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCOL1A1C0023890Liver Cirrhosis4CTD_human
TgeneCOL1A1C0239946Fibrosis, Liver4CTD_human
TgeneCOL1A1C4551623EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 14CTD_human;GENOMICS_ENGLAND
TgeneCOL1A1C4552122EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 14GENOMICS_ENGLAND;UNIPROT
TgeneCOL1A1C0020497Cortical Congenital Hyperostosis3CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneCOL1A1C0023893Liver Cirrhosis, Experimental3CTD_human
TgeneCOL1A1C0268345EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE2ORPHANET
TgeneCOL1A1C0000786Spontaneous abortion1CTD_human
TgeneCOL1A1C0000822Abortion, Tubal1CTD_human
TgeneCOL1A1C0002949Aneurysm, Dissecting1CTD_human
TgeneCOL1A1C0003504Aortic Valve Insufficiency1CTD_human
TgeneCOL1A1C0004364Autoimmune Diseases1CTD_human
TgeneCOL1A1C0005398Cholestasis, Extrahepatic1CTD_human
TgeneCOL1A1C0005779Blood Coagulation Disorders1GENOMICS_ENGLAND
TgeneCOL1A1C0006663Calcinosis1CTD_human
TgeneCOL1A1C0008311Cholangitis1CTD_human
TgeneCOL1A1C0013720Ehlers-Danlos Syndrome1GENOMICS_ENGLAND
TgeneCOL1A1C0016059Fibrosis1CTD_human
TgeneCOL1A1C0018824Heart valve disease1CTD_human
TgeneCOL1A1C0020538Hypertensive disease1CTD_human
TgeneCOL1A1C0022548Keloid1CTD_human
TgeneCOL1A1C0027719Nephrosclerosis1CTD_human
TgeneCOL1A1C0027726Nephrotic Syndrome1CTD_human
TgeneCOL1A1C0029172Oral Submucous Fibrosis1CTD_human
TgeneCOL1A1C0029434Osteogenesis Imperfecta1CTD_human;GENOMICS_ENGLAND
TgeneCOL1A1C0149721Left Ventricular Hypertrophy1CTD_human
TgeneCOL1A1C0220679Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified1ORPHANET
TgeneCOL1A1C0263628Tumoral calcinosis1CTD_human
TgeneCOL1A1C0340643Dissection of aorta1CTD_human
TgeneCOL1A1C0521174Microcalcification1CTD_human
TgeneCOL1A1C1458140Bleeding tendency1GENOMICS_ENGLAND
TgeneCOL1A1C1619692Nephrogenic Fibrosing Dermopathy1CTD_human
TgeneCOL1A1C1623038Cirrhosis1CTD_human
TgeneCOL1A1C1846545Autoimmune Lymphoproliferative Syndrome Type 2B1GENOMICS_ENGLAND
TgeneCOL1A1C3830362Early Pregnancy Loss1CTD_human
TgeneCOL1A1C4277533Dissection, Blood Vessel1CTD_human
TgeneCOL1A1C4552766Miscarriage1CTD_human