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Center for Computational Systems Medicine level2
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:LAMB1-PUS7

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: LAMB1-PUS7
FusionPDB ID: 43932
FusionGDB2.0 ID: 43932
HgeneTgene
Gene symbol

LAMB1

PUS7

Gene ID

3912

54517

Gene namelaminin subunit beta 1pseudouridine synthase 7
SynonymsCLM|LIS5IDDABS
Cytomap

7q31.1

7q22.3

Type of geneprotein-codingprotein-coding
Descriptionlaminin subunit beta-1laminin B1 chainlaminin, beta 1pseudouridylate synthase 7 homologpseudouridylate synthase 7 (putative)
Modification date2020031320200313
UniProtAcc

P07942

.
Ensembl transtripts involved in fusion geneENST idsENST00000222399, ENST00000393560, 
ENST00000393561, ENST00000474380, 
ENST00000356362, ENST00000469408, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score11 X 11 X 5=6056 X 6 X 3=108
# samples 137
** MAII scorelog2(13/605*10)=-2.2184235191335
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/108*10)=-0.625604485218502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: LAMB1 [Title/Abstract] AND PUS7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)LAMB1(107626467)-PUS7(105098373), # samples:3
Anticipated loss of major functional domain due to fusion event.LAMB1-PUS7 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.
LAMB1-PUS7 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
HgeneLAMB1

GO:0030335

positive regulation of cell migration

16289578

HgeneLAMB1

GO:0031175

neuron projection development

15894315

HgeneLAMB1

GO:0034446

substrate adhesion-dependent cell spreading

16236823

HgeneLAMB1

GO:0042476

odontogenesis

15894315

TgenePUS7

GO:0017148

negative regulation of translation

29628141

TgenePUS7

GO:0031119

tRNA pseudouridine synthesis

29628141


check buttonFusion gene breakpoints across LAMB1 (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 PUS7 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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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
ChimerDB4HNSCTCGA-BA-6868-01BLAMB1chr7

107626467

-PUS7chr7

105098373

-
ChimerDB4HNSCTCGA-BA-6868LAMB1chr7

107626466

-PUS7chr7

105098373

-
ChimerDB4HNSCTCGA-BA-6868LAMB1chr7

107626467

-PUS7chr7

105098373

-


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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)
ENST00000393561LAMB1chr7107626467-ENST00000356362PUS7chr7105098373-2349933561069337
ENST00000393561LAMB1chr7107626467-ENST00000469408PUS7chr7105098373-1201933561069337
ENST00000393561LAMB1chr7107626466-ENST00000356362PUS7chr7105098373-2349933561069337
ENST00000393561LAMB1chr7107626466-ENST00000469408PUS7chr7105098373-1201933561069337

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
ENST00000393561ENST00000356362LAMB1chr7107626467-PUS7chr7105098373-0.0009258150.9990742
ENST00000393561ENST00000469408LAMB1chr7107626467-PUS7chr7105098373-0.0064666080.9935334
ENST00000393561ENST00000356362LAMB1chr7107626466-PUS7chr7105098373-0.0009258150.9990742
ENST00000393561ENST00000469408LAMB1chr7107626466-PUS7chr7105098373-0.0064666080.9935334

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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

>43932_43932_1_LAMB1-PUS7_LAMB1_chr7_107626466_ENST00000393561_PUS7_chr7_105098373_ENST00000356362_length(amino acids)=337AA_BP=293
MLDRPDDVCGFLSVSFSFRSPCLPSLSCAHLSIVFSVHFAFFRMDCPLSAPTPPPPLVRFFRAPLPACVPPTLLPVLPAALCRARVRAQE
PEFSYGCAEGSCYPATGDLLIGRAQKLSVTSTCGLHKPEPYCIVSHLQEDKKCFICNSQDPYHETLNPDSHLIENVVTTFAPNRLKIWWQ
SENGVENVTIQLDLEAEFHFTHLIMTFKTFRPAAMLIERSSDFGKTWGVYRYFAYDCEASFPGISTGPMKKVDDIICDSRYSDIEPSTEG

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

>43932_43932_2_LAMB1-PUS7_LAMB1_chr7_107626466_ENST00000393561_PUS7_chr7_105098373_ENST00000469408_length(amino acids)=337AA_BP=293
MLDRPDDVCGFLSVSFSFRSPCLPSLSCAHLSIVFSVHFAFFRMDCPLSAPTPPPPLVRFFRAPLPACVPPTLLPVLPAALCRARVRAQE
PEFSYGCAEGSCYPATGDLLIGRAQKLSVTSTCGLHKPEPYCIVSHLQEDKKCFICNSQDPYHETLNPDSHLIENVVTTFAPNRLKIWWQ
SENGVENVTIQLDLEAEFHFTHLIMTFKTFRPAAMLIERSSDFGKTWGVYRYFAYDCEASFPGISTGPMKKVDDIICDSRYSDIEPSTEG

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

>43932_43932_3_LAMB1-PUS7_LAMB1_chr7_107626467_ENST00000393561_PUS7_chr7_105098373_ENST00000356362_length(amino acids)=337AA_BP=293
MLDRPDDVCGFLSVSFSFRSPCLPSLSCAHLSIVFSVHFAFFRMDCPLSAPTPPPPLVRFFRAPLPACVPPTLLPVLPAALCRARVRAQE
PEFSYGCAEGSCYPATGDLLIGRAQKLSVTSTCGLHKPEPYCIVSHLQEDKKCFICNSQDPYHETLNPDSHLIENVVTTFAPNRLKIWWQ
SENGVENVTIQLDLEAEFHFTHLIMTFKTFRPAAMLIERSSDFGKTWGVYRYFAYDCEASFPGISTGPMKKVDDIICDSRYSDIEPSTEG

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

>43932_43932_4_LAMB1-PUS7_LAMB1_chr7_107626467_ENST00000393561_PUS7_chr7_105098373_ENST00000469408_length(amino acids)=337AA_BP=293
MLDRPDDVCGFLSVSFSFRSPCLPSLSCAHLSIVFSVHFAFFRMDCPLSAPTPPPPLVRFFRAPLPACVPPTLLPVLPAALCRARVRAQE
PEFSYGCAEGSCYPATGDLLIGRAQKLSVTSTCGLHKPEPYCIVSHLQEDKKCFICNSQDPYHETLNPDSHLIENVVTTFAPNRLKIWWQ
SENGVENVTIQLDLEAEFHFTHLIMTFKTFRPAAMLIERSSDFGKTWGVYRYFAYDCEASFPGISTGPMKKVDDIICDSRYSDIEPSTEG

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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/chr7:107626467/chr7:105098373)
- 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
LAMB1

P07942

.
FUNCTION: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Involved in the organization of the laminar architecture of cerebral cortex. It is probably required for the integrity of the basement membrane/glia limitans that serves as an anchor point for the endfeet of radial glial cells and as a physical barrier to migrating neurons. Radial glial cells play a central role in cerebral cortical development, where they act both as the proliferative unit of the cerebral cortex and a scaffold for neurons migrating toward the pial surface. {ECO:0000269|PubMed:23472759}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-7341216_1315225.333333333333341787.0Coiled coilOntology_term=ECO:0000255
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-7341353_1388225.333333333333341787.0Coiled coilOntology_term=ECO:0000255
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-7341442_1781225.333333333333341787.0Coiled coilOntology_term=ECO:0000255
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-7341216_1315225.333333333333341787.0Coiled coilOntology_term=ECO:0000255
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-7341353_1388225.333333333333341787.0Coiled coilOntology_term=ECO:0000255
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-7341442_1781225.333333333333341787.0Coiled coilOntology_term=ECO:0000255
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-7341028_1083225.333333333333341787.0DomainLaminin EGF-like 11
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-7341084_1131225.333333333333341787.0DomainLaminin EGF-like 12
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-7341132_1178225.333333333333341787.0DomainLaminin EGF-like 13
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-734271_334225.333333333333341787.0DomainLaminin EGF-like 1
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-73431_270225.333333333333341787.0DomainLaminin N-terminal
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-734335_397225.333333333333341787.0DomainLaminin EGF-like 2
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-734398_457225.333333333333341787.0DomainLaminin EGF-like 3
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-734458_509225.333333333333341787.0DomainLaminin EGF-like 4
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-734510_540225.333333333333341787.0DomainLaminin EGF-like 5%3B truncated
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-734549_767225.333333333333341787.0DomainLaminin IV type B
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-734773_820225.333333333333341787.0DomainLaminin EGF-like 6
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-734821_866225.333333333333341787.0DomainLaminin EGF-like 7
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-734867_916225.333333333333341787.0DomainLaminin EGF-like 8
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-734917_975225.333333333333341787.0DomainLaminin EGF-like 9
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-734976_1027225.333333333333341787.0DomainLaminin EGF-like 10
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-7341028_1083225.333333333333341787.0DomainLaminin EGF-like 11
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-7341084_1131225.333333333333341787.0DomainLaminin EGF-like 12
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-7341132_1178225.333333333333341787.0DomainLaminin EGF-like 13
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-734271_334225.333333333333341787.0DomainLaminin EGF-like 1
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-73431_270225.333333333333341787.0DomainLaminin N-terminal
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-734335_397225.333333333333341787.0DomainLaminin EGF-like 2
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-734398_457225.333333333333341787.0DomainLaminin EGF-like 3
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-734458_509225.333333333333341787.0DomainLaminin EGF-like 4
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-734510_540225.333333333333341787.0DomainLaminin EGF-like 5%3B truncated
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-734549_767225.333333333333341787.0DomainLaminin IV type B
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-734773_820225.333333333333341787.0DomainLaminin EGF-like 6
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-734821_866225.333333333333341787.0DomainLaminin EGF-like 7
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-734867_916225.333333333333341787.0DomainLaminin EGF-like 8
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-734917_975225.333333333333341787.0DomainLaminin EGF-like 9
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-734976_1027225.333333333333341787.0DomainLaminin EGF-like 10
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-7341179_1397225.333333333333341787.0RegionNote=Domain II
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-7341398_1430225.333333333333341787.0RegionNote=Domain alpha
HgeneLAMB1chr7:107626466chr7:105098373ENST00000222399-7341431_1786225.333333333333341787.0RegionNote=Domain I
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-7341179_1397225.333333333333341787.0RegionNote=Domain II
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-7341398_1430225.333333333333341787.0RegionNote=Domain alpha
HgeneLAMB1chr7:107626467chr7:105098373ENST00000222399-7341431_1786225.333333333333341787.0RegionNote=Domain I
TgenePUS7chr7:107626466chr7:105098373ENST000003563621416370_580616.3333333333334662.0DomainTRUD
TgenePUS7chr7:107626466chr7:105098373ENST000004694081416370_580616.3333333333334662.0DomainTRUD
TgenePUS7chr7:107626467chr7:105098373ENST000003563621416370_580616.3333333333334662.0DomainTRUD
TgenePUS7chr7:107626467chr7:105098373ENST000004694081416370_580616.3333333333334662.0DomainTRUD


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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 >>>636_LAMB1_107626467_PUS7_105098373_ranked_0.pdbLAMB1107626466107626467ENST00000469408PUS7chr7105098373-
MLDRPDDVCGFLSVSFSFRSPCLPSLSCAHLSIVFSVHFAFFRMDCPLSAPTPPPPLVRFFRAPLPACVPPTLLPVLPAALCRARVRAQE
PEFSYGCAEGSCYPATGDLLIGRAQKLSVTSTCGLHKPEPYCIVSHLQEDKKCFICNSQDPYHETLNPDSHLIENVVTTFAPNRLKIWWQ
SENGVENVTIQLDLEAEFHFTHLIMTFKTFRPAAMLIERSSDFGKTWGVYRYFAYDCEASFPGISTGPMKKVDDIICDSRYSDIEPSTEG
337


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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.
LAMB1_pLDDT.png
all structure
all structure
PUS7_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


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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

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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
LAMB1
PUS7


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


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Related Drugs to LAMB1-PUS7


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

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Related Diseases to LAMB1-PUS7


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