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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: 20373

FusionGeneSummary for LTBP3_RAP1GAP2

check button Fusion gene summary
Fusion gene informationFusion gene name: LTBP3_RAP1GAP2
Fusion gene ID: 20373
HgeneTgene
Gene symbol

LTBP3

RAP1GAP2

Gene ID

4054

23108

Gene namelatent transforming growth factor beta binding protein 3RAP1 GTPase activating protein 2
SynonymsDASS|GPHYSD3|LTBP-3|LTBP2|STHAG6|pp6425GARNL4|RAP1GA3
Cytomap

11q13.1

17p13.3

Type of geneprotein-codingprotein-coding
Descriptionlatent-transforming growth factor beta-binding protein 3latent TGF beta binding protein 3rap1 GTPase-activating protein 2GTPase activating RANGAP domain-like 4GTPase activating Rap/RanGAP domain-like 4GTPase-activating Rap/Ran-GAP domain-like protein 4
Modification date2018052220180519
UniProtAcc

Q9NS15

Q684P5

Ensembl transtripts involved in fusion geneENST00000322147, ENST00000301873, 
ENST00000530785, ENST00000529189, 
ENST00000532932, ENST00000536982, 
ENST00000540393, ENST00000254695, 
ENST00000366401, ENST00000542807, 
ENST00000574709, 
Fusion gene scores* DoF score6 X 6 X 3=1083 X 3 X 1=9
# samples 63
** MAII scorelog2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: LTBP3 [Title/Abstract] AND RAP1GAP2 [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
ChiTaRS3.1AI031629LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
* 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
intron-intronENST00000322147ENST00000540393LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-3UTRENST00000322147ENST00000254695LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-3UTRENST00000322147ENST00000366401LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-intronENST00000322147ENST00000542807LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-intronENST00000322147ENST00000574709LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-intronENST00000301873ENST00000540393LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-3UTRENST00000301873ENST00000254695LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-3UTRENST00000301873ENST00000366401LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-intronENST00000301873ENST00000542807LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-intronENST00000301873ENST00000574709LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-intronENST00000530785ENST00000540393LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-3UTRENST00000530785ENST00000254695LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-3UTRENST00000530785ENST00000366401LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-intronENST00000530785ENST00000542807LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-intronENST00000530785ENST00000574709LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-intronENST00000529189ENST00000540393LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-3UTRENST00000529189ENST00000254695LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-3UTRENST00000529189ENST00000366401LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-intronENST00000529189ENST00000542807LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-intronENST00000529189ENST00000574709LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-intronENST00000532932ENST00000540393LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-3UTRENST00000532932ENST00000254695LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-3UTRENST00000532932ENST00000366401LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-intronENST00000532932ENST00000542807LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-intronENST00000532932ENST00000574709LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-intronENST00000536982ENST00000540393LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-3UTRENST00000536982ENST00000254695LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-3UTRENST00000536982ENST00000366401LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-intronENST00000536982ENST00000542807LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-
intron-intronENST00000536982ENST00000574709LTBP3chr11

65306477

+RAP1GAP2chr17

2940430

-

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FusionProtFeatures for LTBP3_RAP1GAP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LTBP3

Q9NS15

RAP1GAP2

Q684P5

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). GTPase activator for the nuclear Ras-related regulatoryprotein RAP-1A (KREV-1), converting it to the putatively inactiveGDP-bound state. {ECO:0000269|PubMed:15632203}.

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 LTBP3_RAP1GAP2


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 LTBP3_RAP1GAP2


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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RelatedDrugs for LTBP3_RAP1GAP2


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 LTBP3_RAP1GAP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLTBP3C0018273Growth Disorders2CTD_human
HgeneLTBP3C0029408Degenerative polyarthritis2CTD_human
HgeneLTBP3C0029464Osteosclerosis2CTD_human;HPO
HgeneLTBP3C0376634Craniofacial Abnormalities2CTD_human
HgeneLTBP3C0399352Developmental absence of tooth2CTD_human
HgeneLTBP3C0002452Amelogenesis Imperfecta1CTD_human;HPO
HgeneLTBP3C0005940Bone Diseases1CTD_human
HgeneLTBP3C0022821Kyphosis deformity of spine1CTD_human
HgeneLTBP3C0026267Mitral Valve Prolapse Syndrome1CTD_human;HPO
HgeneLTBP3C0432228Brachyolmia1CTD_human