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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 37901

FusionGeneSummary for TGFBI_TNNT1

check button Fusion gene summary
Fusion gene informationFusion gene name: TGFBI_TNNT1
Fusion gene ID: 37901
HgeneTgene
Gene symbol

TGFBI

TNNT1

Gene ID

7045

7138

Gene nametransforming growth factor beta inducedtroponin T1, slow skeletal type
SynonymsBIGH3|CDB1|CDG2|CDGG1|CSD|CSD1|CSD2|CSD3|EBMD|LCD1ANM|NEM5|STNT|TNT|TNTS
Cytomap

5q31.1

19q13.42

Type of geneprotein-codingprotein-coding
Descriptiontransforming growth factor-beta-induced protein ig-h3RGD-CAPRGD-containing collagen-associated proteinbeta ig-h3betaig-h3kerato-epithelintransforming growth factor beta-induced 68kDatransforming growth factor, beta-induced, 68kDtroponin T, slow skeletal muscleslow skeletal muscle troponin Ttroponin T type 1 (skeletal, slow)troponin-T1, skeletal, slow
Modification date2018052720180523
UniProtAcc

Q15582

P13805

Ensembl transtripts involved in fusion geneENST00000442011, ENST00000305126, 
ENST00000508076, ENST00000504185, 
ENST00000587758, ENST00000588426, 
ENST00000356783, ENST00000291901, 
ENST00000536926, ENST00000588981, 
ENST00000587465, ENST00000585321, 
ENST00000592920, 
Fusion gene scores* DoF score9 X 8 X 4=2887 X 4 X 5=140
# samples 107
** MAII scorelog2(10/288*10)=-1.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/140*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TGFBI [Title/Abstract] AND TNNT1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneTNNT1

GO:0045932

negative regulation of muscle contraction

18032382


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUADTCGA-69-7978-01ATGFBIchr5

135399504

+TNNT1chr19

55646910

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-intronENST00000442011ENST00000587758TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000442011ENST00000588426TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000442011ENST00000356783TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000442011ENST00000291901TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000442011ENST00000536926TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000442011ENST00000588981TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000442011ENST00000587465TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000442011ENST00000585321TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000442011ENST00000592920TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000305126ENST00000587758TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000305126ENST00000588426TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000305126ENST00000356783TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000305126ENST00000291901TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000305126ENST00000536926TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000305126ENST00000588981TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000305126ENST00000587465TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000305126ENST00000585321TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000305126ENST00000592920TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000508076ENST00000587758TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000508076ENST00000588426TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000508076ENST00000356783TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000508076ENST00000291901TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000508076ENST00000536926TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000508076ENST00000588981TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000508076ENST00000587465TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000508076ENST00000585321TGFBIchr5

135399504

+TNNT1chr19

55646910

-
5CDS-intronENST00000508076ENST00000592920TGFBIchr5

135399504

+TNNT1chr19

55646910

-
intron-intronENST00000504185ENST00000587758TGFBIchr5

135399504

+TNNT1chr19

55646910

-
intron-intronENST00000504185ENST00000588426TGFBIchr5

135399504

+TNNT1chr19

55646910

-
intron-intronENST00000504185ENST00000356783TGFBIchr5

135399504

+TNNT1chr19

55646910

-
intron-intronENST00000504185ENST00000291901TGFBIchr5

135399504

+TNNT1chr19

55646910

-
intron-intronENST00000504185ENST00000536926TGFBIchr5

135399504

+TNNT1chr19

55646910

-
intron-intronENST00000504185ENST00000588981TGFBIchr5

135399504

+TNNT1chr19

55646910

-
intron-intronENST00000504185ENST00000587465TGFBIchr5

135399504

+TNNT1chr19

55646910

-
intron-intronENST00000504185ENST00000585321TGFBIchr5

135399504

+TNNT1chr19

55646910

-
intron-intronENST00000504185ENST00000592920TGFBIchr5

135399504

+TNNT1chr19

55646910

-

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FusionProtFeatures for TGFBI_TNNT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TGFBI

Q15582

TNNT1

P13805

Troponin T is the tropomyosin-binding subunit oftroponin, the thin filament regulatory complex which conferscalcium-sensitivity to striated muscle actomyosin ATPase activity.

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


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FusionGeneSequence for TGFBI_TNNT1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for TGFBI_TNNT1


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
TGFBIFN1, FAM9BTNNT1TNNC1, CCDC85B, PLEKHF1, PPFIA1, TNNT1, ZMYND19, PSMC5, NINL, FXR2, TPM1, PRKG1, TRIM63, IMMT, SH3GL3, ZNF768, KAT5, PI4KA, NACAD, EEF1G, HMGXB4, BLOC1S2, SNW1, ZC3H15, HMP19, SERPINA4, UBE2D1, ZNF250, ZKSCAN5, NAGK, OSM, OSBP2, HSP90AB1, TRA2A, TMEM98, MARS, VIM, HAP1, ARMC8, SEC31A, FYN, C2orf44, CHD3, DDX5, FAF1, LARP1, NFE2L2, TPM3, TBPL1, MORF4L1, LDOC1, TFIP11, CCDC136, KRT40


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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RelatedDrugs for TGFBI_TNNT1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TGFBI_TNNT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTGFBIC1690006Lattice corneal dystrophy Type I12CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC1641846Groenouw corneal dystrophy type I (disorder)7CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC1275685Avellino corneal dystrophy6CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC0339278Reis-Bucklers' corneal dystrophy5CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC1837974Corneal Dystrophy, Lattice Type IIIA5CTD_human;UNIPROT
HgeneTGFBIC1562894Thiel-Behnke corneal dystrophy4CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC0000786Spontaneous abortion1CTD_human
HgeneTGFBIC0011881Diabetic Nephropathy1CTD_human
HgeneTGFBIC0521723Corneal dystrophy, epithelial basement membrane1CTD_human;ORPHANET;UNIPROT