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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: 20110

FusionGeneSummary for LRP12_LAPTM4B

check button Fusion gene summary
Fusion gene informationFusion gene name: LRP12_LAPTM4B
Fusion gene ID: 20110
HgeneTgene
Gene symbol

LRP12

LAPTM4B

Gene ID

29967

55353

Gene nameLDL receptor related protein 12lysosomal protein transmembrane 4 beta
SynonymsST7LAPTM4beta|LC27
Cytomap

8q22.3

8q22.1

Type of geneprotein-codingprotein-coding
Descriptionlow-density lipoprotein receptor-related protein 12suppressor of tumorigenicity 7 proteinlysosomal-associated transmembrane protein 4Blysosomal associated protein transmembrane 4 betalysosome-associated transmembrane protein 4-beta
Modification date2018051920180523
UniProtAcc

Q9Y561

Q86VI4

Ensembl transtripts involved in fusion geneENST00000424843, ENST00000276654, 
ENST00000518375, 
ENST00000445593, 
ENST00000521545, 
Fusion gene scores* DoF score8 X 3 X 4=966 X 3 X 5=90
# samples 108
** MAII scorelog2(10/96*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/90*10)=-0.169925001442312
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LRP12 [Title/Abstract] AND LAPTM4B [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
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 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
TCGARVBRCATCGA-AC-A6IX-01ALRP12chr8

105601047

-LAPTM4Bchr8

98863625

+
TCGARVBRCATCGA-AC-A6IX-06ALRP12chr8

105601047

-LAPTM4Bchr8

98863625

+
* 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
In-frameENST00000424843ENST00000445593LRP12chr8

105601047

-LAPTM4Bchr8

98863625

+
In-frameENST00000424843ENST00000521545LRP12chr8

105601047

-LAPTM4Bchr8

98863625

+
In-frameENST00000276654ENST00000445593LRP12chr8

105601047

-LAPTM4Bchr8

98863625

+
In-frameENST00000276654ENST00000521545LRP12chr8

105601047

-LAPTM4Bchr8

98863625

+
intron-3CDSENST00000518375ENST00000445593LRP12chr8

105601047

-LAPTM4Bchr8

98863625

+
intron-3CDSENST00000518375ENST00000521545LRP12chr8

105601047

-LAPTM4Bchr8

98863625

+

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FusionProtFeatures for LRP12_LAPTM4B


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

Q9Y561

LAPTM4B

Q86VI4

Probable receptor, which may be involved in theinternalization of lipophilic molecules and/or signaltransduction. May act as a tumor suppressor.{ECO:0000269|PubMed:12809483}. Required for optimal lysosomal function(PubMed:21224396). Blocks EGF-stimulated EGFR intraluminal sortingand degradation. Conversely by binding with thephosphatidylinositol 4,5-bisphosphate, regulates its PIP5K1Cinteraction, inhibits HGS ubiquitination and relieves LAPTM4Binhibition of EGFR degradation (PubMed:25588945). Recruits SLC3A2and SLC7A5 (the Leu transporter) to the lysosome, promoting entryof leucine and other essential amino acid (EAA) into the lysosome,stimulating activation of proton-transporting vacuolar (V)-ATPaseprotein pump (V-ATPase) and hence mTORC1 activation(PubMed:25998567). Plays a role as negative regulator of TGFB1production in regulatory T cells (PubMed:26126825). Binds ceramideand facilitates its exit from late endosome in order to controlcell 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.
- In-frame and retained protein feature among the 13 regional features.
>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneLAPTM4Bchr8:105601047chr8:98863625ENST00000445593+57297_317292318TransmembraneHelical
TgeneLAPTM4Bchr8:105601047chr8:98863625ENST00000521545+57216_236201227TransmembraneHelical
TgeneLAPTM4Bchr8:105601047chr8:98863625ENST00000521545+57244_264201227TransmembraneHelical
TgeneLAPTM4Bchr8:105601047chr8:98863625ENST00000521545+57297_317201227TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-17165_20126860DomainLDL-receptor class A 1
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-17214_25526860DomainLDL-receptor class A 2
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-17259_37226860DomainCUB 2
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-17374_41126860DomainLDL-receptor class A 3
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-17412_44926860DomainLDL-receptor class A 4
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-17450_48626860DomainLDL-receptor class A 5
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-1747_15926860DomainCUB 1
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-16165_20126841DomainLDL-receptor class A 1
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-16214_25526841DomainLDL-receptor class A 2
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-16259_37226841DomainCUB 2
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-16374_41126841DomainLDL-receptor class A 3
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-16412_44926841DomainLDL-receptor class A 4
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-16450_48626841DomainLDL-receptor class A 5
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-1647_15926841DomainCUB 1
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-1733_49226860Topological domainExtracellular
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-17514_85926860Topological domainCytoplasmic
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-1633_49226841Topological domainExtracellular
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-16514_85926841Topological domainCytoplasmic
HgeneLRP12chr8:105601047chr8:98863625ENST00000276654-17493_51326860TransmembraneHelical
HgeneLRP12chr8:105601047chr8:98863625ENST00000424843-16493_51326841TransmembraneHelical
TgeneLAPTM4Bchr8:105601047chr8:98863625ENST00000445593+57170_190292318TransmembraneHelical
TgeneLAPTM4Bchr8:105601047chr8:98863625ENST00000445593+57216_236292318TransmembraneHelical
TgeneLAPTM4Bchr8:105601047chr8:98863625ENST00000445593+57244_264292318TransmembraneHelical
TgeneLAPTM4Bchr8:105601047chr8:98863625ENST00000521545+57170_190201227TransmembraneHelical


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FusionGeneSequence for LRP12_LAPTM4B


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_LRP12_ENST00000424843_chr8_105601047_-_LAPTM4B_ENST00000445593_chr8_98863625_+_52aa

>In-frame_LRP12_ENST00000424843_chr8_105601047_-_LAPTM4B_ENST00000521545_chr8_98863625_+_52aa

>In-frame_LRP12_ENST00000276654_chr8_105601047_-_LAPTM4B_ENST00000445593_chr8_98863625_+_52aa

>In-frame_LRP12_ENST00000276654_chr8_105601047_-_LAPTM4B_ENST00000521545_chr8_98863625_+_52aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_LRP12_ENST00000424843_chr8_105601047_-_LAPTM4B_ENST00000445593_chr8_98863625_+_157nt
ATGGCCTGTCGCTGGAGCACAAAAGAGTCTCCGCGGTGGAGGTCTGCGTTGCTCTTGCTTTTCCTCGCTGGGGTGTACGGTGCTGCTACC

>In-frame_LRP12_ENST00000424843_chr8_105601047_-_LAPTM4B_ENST00000521545_chr8_98863625_+_157nt
ATGGCCTGTCGCTGGAGCACAAAAGAGTCTCCGCGGTGGAGGTCTGCGTTGCTCTTGCTTTTCCTCGCTGGGGTGTACGGTGCTGCTACC

>In-frame_LRP12_ENST00000276654_chr8_105601047_-_LAPTM4B_ENST00000445593_chr8_98863625_+_157nt
ATGGCCTGTCGCTGGAGCACAAAAGAGTCTCCGCGGTGGAGGTCTGCGTTGCTCTTGCTTTTCCTCGCTGGGGTGTACGGTGCTGCTACC

>In-frame_LRP12_ENST00000276654_chr8_105601047_-_LAPTM4B_ENST00000521545_chr8_98863625_+_157nt
ATGGCCTGTCGCTGGAGCACAAAAGAGTCTCCGCGGTGGAGGTCTGCGTTGCTCTTGCTTTTCCTCGCTGGGGTGTACGGTGCTGCTACC


* Fusion transcript sequences (Full-length transcript).
>In-frame_LRP12_ENST00000424843_chr8_105601047_-_LAPTM4B_ENST00000445593_chr8_98863625_+_1823nt
AGAGCGCAGGGAGCAGCCGGTGGCTCGGCGGCGGCGGCGGCGGCGGCGGCGGCGTCGGCGTCGTCTACCTCCAGCTTCTCCTCCCTCCTC
CTCCGTCTCCTCCTCTCTCTCTCCATCTGCTGTGGTTATGGCCTGTCGCTGGAGCACAAAAGAGTCTCCGCGGTGGAGGTCTGCGTTGCT
CTTGCTTTTCCTCGCTGGGGTGTACGGTGCTGCTACCCCCGTATGATGATGCCACTGTGAATGGTGCTGCCAAGGAGCCACCGCCACCTT
ACGTGTCTGCCTAAGCCTTCAAGTGGGCGGAGCTGAGGGCAGCAGCTTGACTTTGCAGACATCTGAGCAATAGTTCTGTTATTTCACTTT
TGCCATGAGCCTCTCTGAGCTTGTTTGTTGCTGAAATGCTACTTTTTAAAATTTAGATGTTAGATTGAAAACTGTAGTTTTCAACATATG
CTTTGCTGGAACACTGTGATAGATTAACTGTAGAATTCTTCCTGTACGATTGGGGATATAATGGGCTTCACTAACCTTCCCTAGGCATTG
AAACTTCCCCCAAATCTGATGGACCTAGAAGTCTGCTTTTGTACCTGCTGGGCCCCAAAGTTGGGCATTTTTCTCTCTGTTCCCTCTCTT
TTGAAAATGTAAAATAAAACCAAAAATAGACAACTTTTTCTTCAGCCATTCCAGCATAGAGAACAAAACCTTATGGAAACAGGAATGTCA
ATTGTGTAATCATTGTTCTAATTAGGTAAATAGAAGTCCTTATGTATGTGTTACAAGAATTTCCCCCACAACATCCTTTATGACTGAAGT
TCAATGACAGTTTGTGTTTGGTGGTAAAGGATTTTCTCCATGGCCTGAATTAAGACCATTAGAAAGCACCAGGCCGTGGGAGCAGTGACC
ATCTGCTGACTGTTCTTGTGGATCTTGTGTCCAGGGACATGGGGTGACATGCCTCGTATGTGTTAGAGGGTGGAATGGATGTGTTTGGCG
CTGCATGGGATCTGGTGCCCCTCTTCTCCTGGATTCACATCCCCACCCAGGGCCCGCTTTTACTAAGTGTTCTGCCCTAGATTGGTTCAA
GGAGGTCATCCAACTGACTTTATCAAGTGGAATTGGGATATATTTGATATACTTCTGCCTAACAACATGGAAAAGGGTTTTCTTTTCCCT
GCAAGCTACATCCTACTGCTTTGAACTTCCAAGTATGTCTAGTCACCTTTTAAAATGTAAACATTTTCAGAAAAATGAGGATTGCCTTCC
TTGTATGCGCTTTTTACCTTGACTACCTGAATTGCAAGGGATTTTTATATATTCATATGTTACAAAGTCAGCAACTCTCCTGTTGGTTCA
TTATTGAATGTGCTGTAAATTAAGTTGTTTGCAATTAAAACAAGGTTTGCCCACATCCAAGATGACCTTGTGATTTTGTGCTGATTGTGT
CTGAGGACCTTTCCCTCCACATATGGTCTGGCAGATGCACCCAGTTCAGCCTAAGGAGTAGGCTTTTTTTTGGGGGGGGGAGGTCGGGTG
GGGGGGATTTTTAATCTTTTAATTTTCAAGATGGTTAAAATATTGAAATGTTTAAGTGGATAACTATATTATTCATAAAATGACTGAGTG
AAAACTAATACACTATGAGATGAAAAGTACTTGTCAGGGATTTTCAAGCTTTTGCTCAAGTAATTACTATGAAATAACAATTTCTAGAAA
TGAAGAACAATCCGTGGAGAATAAATTACCATTGGTGTGGGGGAAAAAAGCCAAACAGAAGTAGAAAAAGGTGTAGCCGGCATACAAATG

>In-frame_LRP12_ENST00000424843_chr8_105601047_-_LAPTM4B_ENST00000521545_chr8_98863625_+_284nt
AGAGCGCAGGGAGCAGCCGGTGGCTCGGCGGCGGCGGCGGCGGCGGCGGCGGCGTCGGCGTCGTCTACCTCCAGCTTCTCCTCCCTCCTC
CTCCGTCTCCTCCTCTCTCTCTCCATCTGCTGTGGTTATGGCCTGTCGCTGGAGCACAAAAGAGTCTCCGCGGTGGAGGTCTGCGTTGCT
CTTGCTTTTCCTCGCTGGGGTGTACGGTGCTGCTACCCCCGTATGATGATGCCACTGTGAATGGTGCTGCCAAGGAGCCACCGCCACCTT

>In-frame_LRP12_ENST00000276654_chr8_105601047_-_LAPTM4B_ENST00000445593_chr8_98863625_+_1805nt
GGTGGCTCGGCGGCGGCGGCGGCGGCGGCGGCGGCGTCGGCGTCGTCTACCTCCAGCTTCTCCTCCCTCCTCCTCCGTCTCCTCCTCTCT
CTCTCCATCTGCTGTGGTTATGGCCTGTCGCTGGAGCACAAAAGAGTCTCCGCGGTGGAGGTCTGCGTTGCTCTTGCTTTTCCTCGCTGG
GGTGTACGGTGCTGCTACCCCCGTATGATGATGCCACTGTGAATGGTGCTGCCAAGGAGCCACCGCCACCTTACGTGTCTGCCTAAGCCT
TCAAGTGGGCGGAGCTGAGGGCAGCAGCTTGACTTTGCAGACATCTGAGCAATAGTTCTGTTATTTCACTTTTGCCATGAGCCTCTCTGA
GCTTGTTTGTTGCTGAAATGCTACTTTTTAAAATTTAGATGTTAGATTGAAAACTGTAGTTTTCAACATATGCTTTGCTGGAACACTGTG
ATAGATTAACTGTAGAATTCTTCCTGTACGATTGGGGATATAATGGGCTTCACTAACCTTCCCTAGGCATTGAAACTTCCCCCAAATCTG
ATGGACCTAGAAGTCTGCTTTTGTACCTGCTGGGCCCCAAAGTTGGGCATTTTTCTCTCTGTTCCCTCTCTTTTGAAAATGTAAAATAAA
ACCAAAAATAGACAACTTTTTCTTCAGCCATTCCAGCATAGAGAACAAAACCTTATGGAAACAGGAATGTCAATTGTGTAATCATTGTTC
TAATTAGGTAAATAGAAGTCCTTATGTATGTGTTACAAGAATTTCCCCCACAACATCCTTTATGACTGAAGTTCAATGACAGTTTGTGTT
TGGTGGTAAAGGATTTTCTCCATGGCCTGAATTAAGACCATTAGAAAGCACCAGGCCGTGGGAGCAGTGACCATCTGCTGACTGTTCTTG
TGGATCTTGTGTCCAGGGACATGGGGTGACATGCCTCGTATGTGTTAGAGGGTGGAATGGATGTGTTTGGCGCTGCATGGGATCTGGTGC
CCCTCTTCTCCTGGATTCACATCCCCACCCAGGGCCCGCTTTTACTAAGTGTTCTGCCCTAGATTGGTTCAAGGAGGTCATCCAACTGAC
TTTATCAAGTGGAATTGGGATATATTTGATATACTTCTGCCTAACAACATGGAAAAGGGTTTTCTTTTCCCTGCAAGCTACATCCTACTG
CTTTGAACTTCCAAGTATGTCTAGTCACCTTTTAAAATGTAAACATTTTCAGAAAAATGAGGATTGCCTTCCTTGTATGCGCTTTTTACC
TTGACTACCTGAATTGCAAGGGATTTTTATATATTCATATGTTACAAAGTCAGCAACTCTCCTGTTGGTTCATTATTGAATGTGCTGTAA
ATTAAGTTGTTTGCAATTAAAACAAGGTTTGCCCACATCCAAGATGACCTTGTGATTTTGTGCTGATTGTGTCTGAGGACCTTTCCCTCC
ACATATGGTCTGGCAGATGCACCCAGTTCAGCCTAAGGAGTAGGCTTTTTTTTGGGGGGGGGAGGTCGGGTGGGGGGGATTTTTAATCTT
TTAATTTTCAAGATGGTTAAAATATTGAAATGTTTAAGTGGATAACTATATTATTCATAAAATGACTGAGTGAAAACTAATACACTATGA
GATGAAAAGTACTTGTCAGGGATTTTCAAGCTTTTGCTCAAGTAATTACTATGAAATAACAATTTCTAGAAATGAAGAACAATCCGTGGA
GAATAAATTACCATTGGTGTGGGGGAAAAAAGCCAAACAGAAGTAGAAAAAGGTGTAGCCGGCATACAAATGTTATCTACAGTGTATTTT

>In-frame_LRP12_ENST00000276654_chr8_105601047_-_LAPTM4B_ENST00000521545_chr8_98863625_+_266nt
GGTGGCTCGGCGGCGGCGGCGGCGGCGGCGGCGGCGTCGGCGTCGTCTACCTCCAGCTTCTCCTCCCTCCTCCTCCGTCTCCTCCTCTCT
CTCTCCATCTGCTGTGGTTATGGCCTGTCGCTGGAGCACAAAAGAGTCTCCGCGGTGGAGGTCTGCGTTGCTCTTGCTTTTCCTCGCTGG


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FusionGenePPI for LRP12_LAPTM4B


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
LRP12KLRAP1, SPINT2, GLRA2, MRAP2, HTR3A, ASIC4, TMED6, TCTN2, PSG1, IL17RC, FAM189B, MPPE1, ADAM33, KIR3DL2, ZNRF4, DEFA1, SCNN1DLAPTM4BNEDD4, TFRC, NAALADL2, PIP5K1C, HGS, SNX5, TMEM231, FAM134B, LYPD3, DLK1, TNFRSF10B, SLCO6A1, IL20RA, TNFRSF10A, ENTPD7, PCDHAC2


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 LRP12_LAPTM4B


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 LRP12_LAPTM4B


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