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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: 20378

FusionGeneSummary for LTBP4_STAB1

check button Fusion gene summary
Fusion gene informationFusion gene name: LTBP4_STAB1
Fusion gene ID: 20378
HgeneTgene
Gene symbol

LTBP4

STAB1

Gene ID

8425

23166

Gene namelatent transforming growth factor beta binding protein 4stabilin 1
SynonymsARCL1C|LTBP-4|LTBP4L|LTBP4SCLEVER-1|FEEL-1|FELE-1|FEX1|SCARH2|STAB-1
Cytomap

19q13.2

3p21.1

Type of geneprotein-codingprotein-coding
Descriptionlatent-transforming growth factor beta-binding protein 4latent transforming growth factor-beta binding protein 4Lstabilin-1MS-1 antigencommon lymphatic endothelial and vascular endothelial receptor-1fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1fasciclin, EGF-like, laminin-type EGF-like and link domain-containing scave
Modification date2018052220180522
UniProtAcc

Q8N2S1

Q9NY15

Ensembl transtripts involved in fusion geneENST00000602240, ENST00000204005, 
ENST00000545697, ENST00000308370, 
ENST00000396819, ENST00000243562, 
ENST00000321725, 
Fusion gene scores* DoF score5 X 7 X 4=1403 X 3 X 2=18
# samples 73
** MAII scorelog2(7/140*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: LTBP4 [Title/Abstract] AND STAB1 [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
HgeneLTBP4

GO:0030162

regulation of proteolysis

9660815

TgeneSTAB1

GO:0007267

cell-cell signaling

12077138

TgeneSTAB1

GO:0042742

defense response to bacterium

12077138


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
ChiTaRS3.1BF872672LTBP4chr19

41125336

+STAB1chr3

52556687

+
* 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-3CDSENST00000602240ENST00000321725LTBP4chr19

41125336

+STAB1chr3

52556687

+
In-frameENST00000204005ENST00000321725LTBP4chr19

41125336

+STAB1chr3

52556687

+
In-frameENST00000545697ENST00000321725LTBP4chr19

41125336

+STAB1chr3

52556687

+
In-frameENST00000308370ENST00000321725LTBP4chr19

41125336

+STAB1chr3

52556687

+
In-frameENST00000396819ENST00000321725LTBP4chr19

41125336

+STAB1chr3

52556687

+
In-frameENST00000243562ENST00000321725LTBP4chr19

41125336

+STAB1chr3

52556687

+

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FusionProtFeatures for LTBP4_STAB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LTBP4

Q8N2S1

STAB1

Q9NY15

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) (Bysimilarity). {ECO:0000250}. Acts as a scavenger receptor for acetylated low densitylipoprotein. Binds to both Gram-positive and Gram-negativebacteria and may play a role in defense against bacterialinfection. When inhibited in endothelial tube formation assays,there is a marked decrease in cell-cell interactions, suggesting arole in angiogenesis. Involved in the delivery of newlysynthesized CHID1/SI-CLP from the biosynthetic compartment to theendosomal/lysosomal system. {ECO:0000269|PubMed:12077138,ECO:0000269|PubMed:16357325}.

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 LTBP4_STAB1


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.
>In-frame_LTBP4_ENST00000204005_chr19_41125336_+_STAB1_ENST00000321725_chr3_52556687_+_0aa

>In-frame_LTBP4_ENST00000545697_chr19_41125336_+_STAB1_ENST00000321725_chr3_52556687_+_0aa

>In-frame_LTBP4_ENST00000308370_chr19_41125336_+_STAB1_ENST00000321725_chr3_52556687_+_0aa

>In-frame_LTBP4_ENST00000396819_chr19_41125336_+_STAB1_ENST00000321725_chr3_52556687_+_0aa

>In-frame_LTBP4_ENST00000243562_chr19_41125336_+_STAB1_ENST00000321725_chr3_52556687_+_0aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_LTBP4_ENST00000204005_chr19_41125336_+_STAB1_ENST00000321725_chr3_52556687_+_0nt

>In-frame_LTBP4_ENST00000545697_chr19_41125336_+_STAB1_ENST00000321725_chr3_52556687_+_0nt

>In-frame_LTBP4_ENST00000308370_chr19_41125336_+_STAB1_ENST00000321725_chr3_52556687_+_0nt

>In-frame_LTBP4_ENST00000396819_chr19_41125336_+_STAB1_ENST00000321725_chr3_52556687_+_0nt

>In-frame_LTBP4_ENST00000243562_chr19_41125336_+_STAB1_ENST00000321725_chr3_52556687_+_0nt


* Fusion transcript sequences (Full-length transcript).
>In-frame_LTBP4_ENST00000204005_chr19_41125336_+_STAB1_ENST00000321725_chr3_52556687_+_0nt

>In-frame_LTBP4_ENST00000545697_chr19_41125336_+_STAB1_ENST00000321725_chr3_52556687_+_0nt

>In-frame_LTBP4_ENST00000308370_chr19_41125336_+_STAB1_ENST00000321725_chr3_52556687_+_0nt

>In-frame_LTBP4_ENST00000396819_chr19_41125336_+_STAB1_ENST00000321725_chr3_52556687_+_0nt

>In-frame_LTBP4_ENST00000243562_chr19_41125336_+_STAB1_ENST00000321725_chr3_52556687_+_0nt


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FusionGenePPI for LTBP4_STAB1


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 LTBP4_STAB1


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 LTBP4_STAB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLTBP4C0017636Glioblastoma1CTD_human
HgeneLTBP4C0027643Neoplasm Recurrence, Local1CTD_human
HgeneLTBP4C2750804Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities1CTD_human;ORPHANET;UNIPROT
TgeneSTAB1C0005586Bipolar Disorder1PSYGENET
TgeneSTAB1C0338831Manic1PSYGENET
TgeneSTAB1C0564408Manic mood1PSYGENET
TgeneSTAB1C3495559Juvenile arthritis1CTD_human