UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine level2
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein Structure

leaf

pLDDT scores

leaf

Ramachandran Plot of Fusion Protein Structure

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:LRP12-LAPTM4B

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: LRP12-LAPTM4B
FusionPDB ID: 49715
FusionGDB2.0 ID: 49715
HgeneTgene
Gene symbol

LRP12

LAPTM4B

Gene ID

29967

55353

Gene nameLDL receptor related protein 12lysosomal protein transmembrane 4 beta
SynonymsMIG13A|ST7LAPTM4beta|LC27
Cytomap

8q22.3

8q22.1

Type of geneprotein-codingprotein-coding
Descriptionlow-density lipoprotein receptor-related protein 12LDLR-related protein 12suppressor of tumorigenicity 7 proteinlysosomal-associated transmembrane protein 4Blysosomal associated protein transmembrane 4 betalysosome-associated transmembrane protein 4-beta
Modification date2020031320200313
UniProtAcc

Q9Y561

Q86VI4

Ensembl transtripts involved in fusion geneENST idsENST00000276654, ENST00000424843, 
ENST00000518375, 
ENST00000445593, 
ENST00000521545, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score11 X 6 X 6=39614 X 8 X 8=896
# samples 1316
** MAII scorelog2(13/396*10)=-1.60698880705116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/896*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: LRP12 [Title/Abstract] AND LAPTM4B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)LRP12(105601047)-LAPTM4B(98863625), # samples:5
Anticipated loss of major functional domain due to fusion event.LRP12-LAPTM4B seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
LRP12-LAPTM4B seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
LRP12-LAPTM4B seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
LRP12-LAPTM4B seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneLRP12

GO:0001764

neuron migration

26639854

HgeneLRP12

GO:0031175

neuron projection development

26639854

TgeneLAPTM4B

GO:0032509

endosome transport via multivesicular body sorting pathway

25588945

TgeneLAPTM4B

GO:0032911

negative regulation of transforming growth factor beta1 production

26126825


check buttonFusion gene breakpoints across LRP12 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across LAPTM4B (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-AC-A6IX-01ALRP12chr8

105601047

-LAPTM4Bchr8

98863625

+
ChimerDB4BRCATCGA-AC-A6IX-06ALRP12chr8

105601047

-LAPTM4Bchr8

98863625

+
ChimerDB4BRCATCGA-AC-A6IXLRP12chr8

105601046

-LAPTM4Bchr8

98863624

+


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000424843LRP12chr8105601047-ENST00000445593LAPTM4Bchr898863625+1823206994128195
ENST00000424843LRP12chr8105601047-ENST00000521545LAPTM4Bchr898863625+28420611628356
ENST00000276654LRP12chr8105601047-ENST00000445593LAPTM4Bchr898863625+1805188976126395
ENST00000276654LRP12chr8105601047-ENST00000521545LAPTM4Bchr898863625+2661889826556
ENST00000424843LRP12chr8105601046-ENST00000445593LAPTM4Bchr898863624+1823206994128195
ENST00000424843LRP12chr8105601046-ENST00000521545LAPTM4Bchr898863624+28420611628356
ENST00000276654LRP12chr8105601046-ENST00000445593LAPTM4Bchr898863624+1805188976126395
ENST00000276654LRP12chr8105601046-ENST00000521545LAPTM4Bchr898863624+2661889826556

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000424843ENST00000445593LRP12chr8105601047-LAPTM4Bchr898863625+0.50766720.49233285
ENST00000424843ENST00000521545LRP12chr8105601047-LAPTM4Bchr898863625+0.26326620.73673373
ENST00000276654ENST00000445593LRP12chr8105601047-LAPTM4Bchr898863625+0.54004280.45995724
ENST00000276654ENST00000521545LRP12chr8105601047-LAPTM4Bchr898863625+0.235973020.76402694
ENST00000424843ENST00000445593LRP12chr8105601046-LAPTM4Bchr898863624+0.50766720.49233285
ENST00000424843ENST00000521545LRP12chr8105601046-LAPTM4Bchr898863624+0.26326620.73673373
ENST00000276654ENST00000445593LRP12chr8105601046-LAPTM4Bchr898863624+0.54004280.45995724
ENST00000276654ENST00000521545LRP12chr8105601046-LAPTM4Bchr898863624+0.235973020.76402694

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>49715_49715_1_LRP12-LAPTM4B_LRP12_chr8_105601046_ENST00000276654_LAPTM4B_chr8_98863624_ENST00000445593_length(amino acids)=95AA_BP=
MGSGAPLLLDSHPHPGPAFTKCSALDWFKEVIQLTLSSGIGIYLIYFCLTTWKRVFFSLQATSYCFELPSMSSHLLKCKHFQKNEDCLPC

--------------------------------------------------------------

>49715_49715_2_LRP12-LAPTM4B_LRP12_chr8_105601046_ENST00000276654_LAPTM4B_chr8_98863624_ENST00000521545_length(amino acids)=56AA_BP=30

--------------------------------------------------------------

>49715_49715_3_LRP12-LAPTM4B_LRP12_chr8_105601046_ENST00000424843_LAPTM4B_chr8_98863624_ENST00000445593_length(amino acids)=95AA_BP=
MGSGAPLLLDSHPHPGPAFTKCSALDWFKEVIQLTLSSGIGIYLIYFCLTTWKRVFFSLQATSYCFELPSMSSHLLKCKHFQKNEDCLPC

--------------------------------------------------------------

>49715_49715_4_LRP12-LAPTM4B_LRP12_chr8_105601046_ENST00000424843_LAPTM4B_chr8_98863624_ENST00000521545_length(amino acids)=56AA_BP=30

--------------------------------------------------------------

>49715_49715_5_LRP12-LAPTM4B_LRP12_chr8_105601047_ENST00000276654_LAPTM4B_chr8_98863625_ENST00000445593_length(amino acids)=95AA_BP=
MGSGAPLLLDSHPHPGPAFTKCSALDWFKEVIQLTLSSGIGIYLIYFCLTTWKRVFFSLQATSYCFELPSMSSHLLKCKHFQKNEDCLPC

--------------------------------------------------------------

>49715_49715_6_LRP12-LAPTM4B_LRP12_chr8_105601047_ENST00000276654_LAPTM4B_chr8_98863625_ENST00000521545_length(amino acids)=56AA_BP=30

--------------------------------------------------------------

>49715_49715_7_LRP12-LAPTM4B_LRP12_chr8_105601047_ENST00000424843_LAPTM4B_chr8_98863625_ENST00000445593_length(amino acids)=95AA_BP=
MGSGAPLLLDSHPHPGPAFTKCSALDWFKEVIQLTLSSGIGIYLIYFCLTTWKRVFFSLQATSYCFELPSMSSHLLKCKHFQKNEDCLPC

--------------------------------------------------------------

>49715_49715_8_LRP12-LAPTM4B_LRP12_chr8_105601047_ENST00000424843_LAPTM4B_chr8_98863625_ENST00000521545_length(amino acids)=56AA_BP=30

--------------------------------------------------------------

Top

Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr8:105601047/chr8:98863625)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LRP12

Q9Y561

LAPTM4B

Q86VI4

FUNCTION: Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor. {ECO:0000269|PubMed:12809483}.FUNCTION: Required for optimal lysosomal function (PubMed:21224396). Blocks EGF-stimulated EGFR intraluminal sorting and degradation. Conversely by binding with the phosphatidylinositol 4,5-bisphosphate, regulates its PIP5K1C interaction, inhibits HGS ubiquitination and relieves LAPTM4B inhibition of EGFR degradation (PubMed:25588945). Recruits SLC3A2 and SLC7A5 (the Leu transporter) to the lysosome, promoting entry of leucine and other essential amino acid (EAA) into the lysosome, stimulating activation of proton-transporting vacuolar (V)-ATPase protein pump (V-ATPase) and hence mTORC1 activation (PubMed:25998567). Plays a role as negative regulator of TGFB1 production in regulatory T cells (PubMed:26126825). Binds ceramide and facilitates its exit from late endosome in order to control cell death pathways (PubMed:26280656). {ECO:0000269|PubMed:21224396, ECO:0000269|PubMed:25588945, ECO:0000269|PubMed:25998567, ECO:0000269|PubMed:26126825, ECO:0000269|PubMed:26280656}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneLAPTM4Bchr8:105601046chr8:98863624ENST0000052154557244_264201.0227.0TransmembraneHelical
TgeneLAPTM4Bchr8:105601047chr8:98863625ENST0000052154557244_264201.0227.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneLRP12chr8:105601046chr8:98863624ENST00000276654-17165_20126.333333333333332860.0DomainLDL-receptor class A 1
HgeneLRP12chr8:105601046chr8:98863624ENST00000276654-17214_25526.333333333333332860.0DomainLDL-receptor class A 2
HgeneLRP12chr8:105601046chr8:98863624ENST00000276654-17259_37226.333333333333332860.0DomainCUB 2
HgeneLRP12chr8:105601046chr8:98863624ENST00000276654-17374_41126.333333333333332860.0DomainLDL-receptor class A 3
HgeneLRP12chr8:105601046chr8:98863624ENST00000276654-17412_44926.333333333333332860.0DomainLDL-receptor class A 4
HgeneLRP12chr8:105601046chr8:98863624ENST00000276654-17450_48626.333333333333332860.0DomainLDL-receptor class A 5
HgeneLRP12chr8:105601046chr8:98863624ENST00000276654-1747_15926.333333333333332860.0DomainCUB 1
HgeneLRP12chr8:105601046chr8:98863624ENST00000424843-16165_20126.333333333333332841.0DomainLDL-receptor class A 1
HgeneLRP12chr8:105601046chr8:98863624ENST00000424843-16214_25526.333333333333332841.0DomainLDL-receptor class A 2
HgeneLRP12chr8:105601046chr8:98863624ENST00000424843-16259_37226.333333333333332841.0DomainCUB 2
HgeneLRP12chr8:105601046chr8:98863624ENST00000424843-16374_41126.333333333333332841.0DomainLDL-receptor class A 3
HgeneLRP12chr8:105601046chr8:98863624ENST00000424843-16412_44926.333333333333332841.0DomainLDL-receptor class A 4
HgeneLRP12chr8:105601046chr8:98863624ENST00000424843-16450_48626.333333333333332841.0DomainLDL-receptor class A 5
HgeneLRP12chr8:105601046chr8:98863624ENST00000424843-1647_15926.333333333333332841.0DomainCUB 1
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-17165_20126.333333333333332860.0DomainLDL-receptor class A 1
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-17214_25526.333333333333332860.0DomainLDL-receptor class A 2
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-17259_37226.333333333333332860.0DomainCUB 2
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-17374_41126.333333333333332860.0DomainLDL-receptor class A 3
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-17412_44926.333333333333332860.0DomainLDL-receptor class A 4
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-17450_48626.333333333333332860.0DomainLDL-receptor class A 5
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-1747_15926.333333333333332860.0DomainCUB 1
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-16165_20126.333333333333332841.0DomainLDL-receptor class A 1
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-16214_25526.333333333333332841.0DomainLDL-receptor class A 2
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-16259_37226.333333333333332841.0DomainCUB 2
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-16374_41126.333333333333332841.0DomainLDL-receptor class A 3
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-16412_44926.333333333333332841.0DomainLDL-receptor class A 4
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-16450_48626.333333333333332841.0DomainLDL-receptor class A 5
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-1647_15926.333333333333332841.0DomainCUB 1
HgeneLRP12chr8:105601046chr8:98863624ENST00000276654-1733_49226.333333333333332860.0Topological domainExtracellular
HgeneLRP12chr8:105601046chr8:98863624ENST00000276654-17514_85926.333333333333332860.0Topological domainCytoplasmic
HgeneLRP12chr8:105601046chr8:98863624ENST00000424843-1633_49226.333333333333332841.0Topological domainExtracellular
HgeneLRP12chr8:105601046chr8:98863624ENST00000424843-16514_85926.333333333333332841.0Topological domainCytoplasmic
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-1733_49226.333333333333332860.0Topological domainExtracellular
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-17514_85926.333333333333332860.0Topological domainCytoplasmic
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-1633_49226.333333333333332841.0Topological domainExtracellular
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-16514_85926.333333333333332841.0Topological domainCytoplasmic
HgeneLRP12chr8:105601046chr8:98863624ENST00000276654-17493_51326.333333333333332860.0TransmembraneHelical
HgeneLRP12chr8:105601046chr8:98863624ENST00000424843-16493_51326.333333333333332841.0TransmembraneHelical
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-17493_51326.333333333333332860.0TransmembraneHelical
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-16493_51326.333333333333332841.0TransmembraneHelical
TgeneLAPTM4Bchr8:105601046chr8:98863624ENST0000044559357117_137292.0318.0TransmembraneHelical
TgeneLAPTM4Bchr8:105601046chr8:98863624ENST0000044559357163_183292.0318.0TransmembraneHelical
TgeneLAPTM4Bchr8:105601046chr8:98863624ENST0000044559357191_211292.0318.0TransmembraneHelical
TgeneLAPTM4Bchr8:105601046chr8:98863624ENST0000044559357244_264292.0318.0TransmembraneHelical
TgeneLAPTM4Bchr8:105601046chr8:98863624ENST0000052154557117_137201.0227.0TransmembraneHelical
TgeneLAPTM4Bchr8:105601046chr8:98863624ENST0000052154557163_183201.0227.0TransmembraneHelical
TgeneLAPTM4Bchr8:105601046chr8:98863624ENST0000052154557191_211201.0227.0TransmembraneHelical
TgeneLAPTM4Bchr8:105601047chr8:98863625ENST0000044559357117_137292.0318.0TransmembraneHelical
TgeneLAPTM4Bchr8:105601047chr8:98863625ENST0000044559357163_183292.0318.0TransmembraneHelical
TgeneLAPTM4Bchr8:105601047chr8:98863625ENST0000044559357191_211292.0318.0TransmembraneHelical
TgeneLAPTM4Bchr8:105601047chr8:98863625ENST0000044559357244_264292.0318.0TransmembraneHelical
TgeneLAPTM4Bchr8:105601047chr8:98863625ENST0000052154557117_137201.0227.0TransmembraneHelical
TgeneLAPTM4Bchr8:105601047chr8:98863625ENST0000052154557163_183201.0227.0TransmembraneHelical
TgeneLAPTM4Bchr8:105601047chr8:98863625ENST0000052154557191_211201.0227.0TransmembraneHelical


Top

Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>20_LRP12_105601047_LAPTM4B_98863625_ranked_0.pdbLRP12105601046105601047ENST00000521545LAPTM4Bchr898863625+
MGSGAPLLLDSHPHPGPAFTKCSALDWFKEVIQLTLSSGIGIYLIYFCLTTWKRVFFSLQATSYCFELPSMSSHLLKCKHFQKNEDCLPC
95


Top

pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
LRP12_pLDDT.png
all structure
all structure
LAPTM4B_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


Top

Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

Top

Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
LRP12
LAPTM4B


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs to LRP12-LAPTM4B


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to LRP12-LAPTM4B


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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