FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 20362

FusionGeneSummary for LTBP1_UCMA

check button Fusion gene summary
Fusion gene informationFusion gene name: LTBP1_UCMA
Fusion gene ID: 20362
HgeneTgene
Gene symbol

LTBP1

UCMA

Gene ID

4052

221044

Gene namelatent transforming growth factor beta binding protein 1upper zone of growth plate and cartilage matrix associated
Synonyms-C10orf49|GRP|GRP/UCMA
Cytomap

2p22.3

10p13

Type of geneprotein-codingprotein-coding
Descriptionlatent-transforming growth factor beta-binding protein 1LTBP-1TGF-beta1-BP-1transforming growth factor beta-1-binding protein 1unique cartilage matrix-associated proteinGla-rich protein
Modification date2018052220180519
UniProtAcc

Q14766

Q8WVF2

Ensembl transtripts involved in fusion geneENST00000404816, ENST00000354476, 
ENST00000390003, ENST00000418533, 
ENST00000402934, ENST00000404525, 
ENST00000407925, ENST00000272273, 
ENST00000498013, 
ENST00000378681, 
ENST00000463405, 
Fusion gene scores* DoF score8 X 7 X 9=5042 X 2 X 2=8
# samples 152
** MAII scorelog2(15/504*10)=-1.74846123300404
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: LTBP1 [Title/Abstract] AND UCMA [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

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
TCGARVSARCTCGA-DX-A3U5-01ALTBP1chr2

33174012

+UCMAchr10

13264200

-
* 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
Frame-shitENST00000404816ENST00000378681LTBP1chr2

33174012

+UCMAchr10

13264200

-
Frame-shitENST00000404816ENST00000463405LTBP1chr2

33174012

+UCMAchr10

13264200

-
Frame-shitENST00000354476ENST00000378681LTBP1chr2

33174012

+UCMAchr10

13264200

-
Frame-shitENST00000354476ENST00000463405LTBP1chr2

33174012

+UCMAchr10

13264200

-
intron-3CDSENST00000390003ENST00000378681LTBP1chr2

33174012

+UCMAchr10

13264200

-
intron-3CDSENST00000390003ENST00000463405LTBP1chr2

33174012

+UCMAchr10

13264200

-
intron-3CDSENST00000418533ENST00000378681LTBP1chr2

33174012

+UCMAchr10

13264200

-
intron-3CDSENST00000418533ENST00000463405LTBP1chr2

33174012

+UCMAchr10

13264200

-
intron-3CDSENST00000402934ENST00000378681LTBP1chr2

33174012

+UCMAchr10

13264200

-
intron-3CDSENST00000402934ENST00000463405LTBP1chr2

33174012

+UCMAchr10

13264200

-
intron-3CDSENST00000404525ENST00000378681LTBP1chr2

33174012

+UCMAchr10

13264200

-
intron-3CDSENST00000404525ENST00000463405LTBP1chr2

33174012

+UCMAchr10

13264200

-
intron-3CDSENST00000407925ENST00000378681LTBP1chr2

33174012

+UCMAchr10

13264200

-
intron-3CDSENST00000407925ENST00000463405LTBP1chr2

33174012

+UCMAchr10

13264200

-
intron-3CDSENST00000272273ENST00000378681LTBP1chr2

33174012

+UCMAchr10

13264200

-
intron-3CDSENST00000272273ENST00000463405LTBP1chr2

33174012

+UCMAchr10

13264200

-
intron-3CDSENST00000498013ENST00000378681LTBP1chr2

33174012

+UCMAchr10

13264200

-
intron-3CDSENST00000498013ENST00000463405LTBP1chr2

33174012

+UCMAchr10

13264200

-

Top

FusionProtFeatures for LTBP1_UCMA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LTBP1

Q14766

UCMA

Q8WVF2

May be involved in the assembly, secretion and targetingof TGFB1 to sites at which it is stored and/or activated. May playcritical roles in controlling and directing the activity of TGFB1.May have a structural role in the extracellular matrix (ECM). May be involved in the negative control of osteogenicdifferentiation of osteochondrogenic precursor cells in peripheralzones of fetal cartilage and at the cartilage-bone interface.{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


Top

FusionGeneSequence for LTBP1_UCMA


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).

Top

FusionGenePPI for LTBP1_UCMA


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
LTBP1TGFB1, CACNA1A, ATN1, SMURF1, FBXO6, HLA-DPA1, GINM1, ZFP41, IGFBP3, IGFBP5, MED23, ALKBH3, ZNF131, PTPN4, BCHE, KLRG2, ZNF408, KBTBD7, PCDHB11, PCDH20, PCDH12, CSN1S1, EFEMP1, MMP10, VWCE, PCDHGB4, PCDHGA5, PCDHA4, CDH5, DEFA5, MMP3, C4orf26, PCDHA12, LOXL3UCMAKRT40


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


Top

RelatedDrugs for LTBP1_UCMA


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

Top

RelatedDiseases for LTBP1_UCMA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLTBP1C0023893Liver Cirrhosis, Experimental1CTD_human