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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: 4140

FusionGeneSummary for BGN_TTN

check button Fusion gene summary
Fusion gene informationFusion gene name: BGN_TTN
Fusion gene ID: 4140
HgeneTgene
Gene symbol

BGN

TTN

Gene ID

633

7273

Gene namebiglycantitin
SynonymsDSPG1|MRLS|PG-S1|PGI|SEMDX|SLRR1ACMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|MYLK5|SALMY|TMD
Cytomap

Xq28

2q31.2

Type of geneprotein-codingprotein-coding
Descriptionbiglycanbone/cartilage proteoglycan-Idermatan sulphate proteoglycan Ismall leucine-rich protein 1Atitinconnectinrhabdomyosarcoma antigen MU-RMS-40.14
Modification date2018052220180523
UniProtAcc

P21810

Q8WZ42

Ensembl transtripts involved in fusion geneENST00000331595, ENST00000480756, 
ENST00000342992, ENST00000460472, 
ENST00000589042, ENST00000342175, 
ENST00000359218, ENST00000591111, 
ENST00000360870, 
Fusion gene scores* DoF score15 X 7 X 11=11554 X 5 X 3=60
# samples 176
** MAII scorelog2(17/1155*10)=-2.76428620016572
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/60*10)=0
Context

PubMed: BGN [Title/Abstract] AND TTN [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
TgeneTTN

GO:0035995

detection of muscle stretch

18765796

TgeneTTN

GO:0051592

response to calcium ion

7607248


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
TCGARVHNSCTCGA-DQ-5625-01ABGNchrX

152774998

+TTNchr2

179511286

-
TCGARVHNSCTCGA-CV-5971-01ABGNchrX

152774998

+TTNchr2

179511286

-
* 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
3UTR-intronENST00000331595ENST00000342992BGNchrX

152774998

+TTNchr2

179511286

-
3UTR-intronENST00000331595ENST00000460472BGNchrX

152774998

+TTNchr2

179511286

-
3UTR-intronENST00000331595ENST00000589042BGNchrX

152774998

+TTNchr2

179511286

-
3UTR-intronENST00000331595ENST00000342175BGNchrX

152774998

+TTNchr2

179511286

-
3UTR-intronENST00000331595ENST00000359218BGNchrX

152774998

+TTNchr2

179511286

-
3UTR-intronENST00000331595ENST00000591111BGNchrX

152774998

+TTNchr2

179511286

-
3UTR-intronENST00000331595ENST00000360870BGNchrX

152774998

+TTNchr2

179511286

-
5CDS-intronENST00000480756ENST00000342992BGNchrX

152774998

+TTNchr2

179511286

-
5CDS-intronENST00000480756ENST00000460472BGNchrX

152774998

+TTNchr2

179511286

-
5CDS-intronENST00000480756ENST00000589042BGNchrX

152774998

+TTNchr2

179511286

-
5CDS-intronENST00000480756ENST00000342175BGNchrX

152774998

+TTNchr2

179511286

-
5CDS-intronENST00000480756ENST00000359218BGNchrX

152774998

+TTNchr2

179511286

-
5CDS-intronENST00000480756ENST00000591111BGNchrX

152774998

+TTNchr2

179511286

-
5CDS-intronENST00000480756ENST00000360870BGNchrX

152774998

+TTNchr2

179511286

-

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FusionProtFeatures for BGN_TTN


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

P21810

TTN

Q8WZ42

May be involved in collagen fiber assembly.{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

- 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 BGN_TTN


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 BGN_TTN


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
BGNHDL3, JPH3, TGFB1, TNF, ELN, MFAP2, APP, SGCA, APOB, HSPB2TTNCAPN3, TCAP, PUF60, ASF1B, ANKRD23, ANKRD1, MYPN, ANKRD2, MYBPC3, ANK1, ACTN1, OBSCN, FHL2, TRIM63, YWHAQ, VAV2, ARRB1, SP1, NBR1, SQSTM1, CUL3, CUL4B, CUL2, CDK2, COPS5, NEDD8, CRYAB, SRSF2, SPEN, CPSF6, ALB, CALM1, ADRB2, DYRK2, SRPK2, CEP57, TRIM55, RAPGEF2, MAPK1, FHL1, CUL7, RNF2, NTRK1, ANXA7, HSPB2, EWSR1, GAN, MCM2, TSC22D2, CDH1, EGFR, TLE3, ADAM2, RBM3, CHEK2, CHEK1, TOP1, TOP2A, TOP3A, WEE1, MAP2K1, TUBA1A, UBE2A, HEY1, BRCA1, LMNA


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 BGN_TTN


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 BGN_TTN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBGNC0003873Rheumatoid Arthritis1CTD_human
HgeneBGNC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneBGNC1848097Spondyloepimetaphyseal Dysplasia, X-Linked1ORPHANET;UNIPROT
TgeneTTNC0007193Cardiomyopathy, Dilated3CTD_human;HPO
TgeneTTNC1858763Cardiomyopathy, Dilated, 1g3CTD_human;UNIPROT
TgeneTTNC1838244TIBIAL MUSCULAR DYSTROPHY, TARDIVE2ORPHANET;UNIPROT
TgeneTTNC1861065CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 92CTD_human;UNIPROT
TgeneTTNC0026848Myopathy1CTD_human;HPO
TgeneTTNC0151786Muscle Weakness1CTD_human
TgeneTTNC0340427Familial dilated cardiomyopathy1CTD_human
TgeneTTNC0751336Distal Muscular Dystrophies1CTD_human
TgeneTTNC1863599Hereditary Myopathy with Early Respiratory Failure1CTD_human;ORPHANET;UNIPROT