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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:LTV1-ATG5

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: LTV1-ATG5
FusionPDB ID: 50320
FusionGDB2.0 ID: 50320
HgeneTgene
Gene symbol

LTV1

ATG5

Gene ID

84946

9474

Gene nameLTV1 ribosome biogenesis factorautophagy related 5
SynonymsC6orf93|dJ468K18.4APG5|APG5-LIKE|APG5L|ASP|SCAR25|hAPG5
Cytomap

6q24.2

6q21

Type of geneprotein-codingprotein-coding
Descriptionprotein LTV1 homologLTV1 homologautophagy protein 5APG5 autophagy 5-likeATG5 autophagy related 5 homologapoptosis-specific protein
Modification date2020031320200313
UniProtAcc

Q96GA3

Q9H1Y0

Ensembl transtripts involved in fusion geneENST idsENST00000367576, ENST00000475645, 
ENST00000360666, ENST00000343245, 
ENST00000369070, ENST00000369076, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 3 X 3=2715 X 12 X 7=1260
# samples 315
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(15/1260*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: LTV1 [Title/Abstract] AND ATG5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)LTV1(144167361)-ATG5(106649964), # samples:4
Anticipated loss of major functional domain due to fusion event.LTV1-ATG5 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.
LTV1-ATG5 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.
LTV1-ATG5 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted 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

check buttonFusion gene breakpoints across LTV1 (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 ATG5 (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
ChimerDB4BRCATCGA-E9-A248-01ALTV1chr6

144167360

+ATG5chr6

106649963

-
ChimerDB4BRCATCGA-E9-A248-01ALTV1chr6

144167361

-ATG5chr6

106649964

-
ChimerDB4BRCATCGA-E9-A248-01ALTV1chr6

144167361

+ATG5chr6

106649964

-
ChimerDB4BRCATCGA-E9-A248LTV1chr6

144167361

+ATG5chr6

106649964

-


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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)
ENST00000367576LTV1chr6144167361+ENST00000343245ATG5chr6106649964-2762443134697187
ENST00000367576LTV1chr6144167361+ENST00000369070ATG5chr6106649964-2762443134697187
ENST00000367576LTV1chr6144167361+ENST00000369076ATG5chr6106649964-2762443134697187
ENST00000367576LTV1chr6144167360+ENST00000343245ATG5chr6106649963-2762443134697187
ENST00000367576LTV1chr6144167360+ENST00000369070ATG5chr6106649963-2762443134697187
ENST00000367576LTV1chr6144167360+ENST00000369076ATG5chr6106649963-2762443134697187

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
ENST00000367576ENST00000343245LTV1chr6144167361+ATG5chr6106649964-0.0018022110.99819785
ENST00000367576ENST00000369070LTV1chr6144167361+ATG5chr6106649964-0.0018022110.99819785
ENST00000367576ENST00000369076LTV1chr6144167361+ATG5chr6106649964-0.0018022110.99819785
ENST00000367576ENST00000343245LTV1chr6144167360+ATG5chr6106649963-0.0018022110.99819785
ENST00000367576ENST00000369070LTV1chr6144167360+ATG5chr6106649963-0.0018022110.99819785
ENST00000367576ENST00000369076LTV1chr6144167360+ATG5chr6106649963-0.0018022110.99819785

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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

>50320_50320_1_LTV1-ATG5_LTV1_chr6_144167360_ENST00000367576_ATG5_chr6_106649963_ENST00000343245_length(amino acids)=187AA_BP=103
MPHRKKKPFIEKKKAVSFHLVHRSQRDPLAADESAPQRVLLPTQKIDNEERRAEQRKYGVFFDDDYDYLQHLKEPSGPSELIPSSTFSAH
NRREEKEETLVIPTTTERPFIQKLFRPVAADGQLHTLGDLLKEVCPSAIDPEDGEKKNQVMIHGIEPMLETPLQWLSEHLSYPDNFLHIS

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

>50320_50320_2_LTV1-ATG5_LTV1_chr6_144167360_ENST00000367576_ATG5_chr6_106649963_ENST00000369070_length(amino acids)=187AA_BP=103
MPHRKKKPFIEKKKAVSFHLVHRSQRDPLAADESAPQRVLLPTQKIDNEERRAEQRKYGVFFDDDYDYLQHLKEPSGPSELIPSSTFSAH
NRREEKEETLVIPTTTERPFIQKLFRPVAADGQLHTLGDLLKEVCPSAIDPEDGEKKNQVMIHGIEPMLETPLQWLSEHLSYPDNFLHIS

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

>50320_50320_3_LTV1-ATG5_LTV1_chr6_144167360_ENST00000367576_ATG5_chr6_106649963_ENST00000369076_length(amino acids)=187AA_BP=103
MPHRKKKPFIEKKKAVSFHLVHRSQRDPLAADESAPQRVLLPTQKIDNEERRAEQRKYGVFFDDDYDYLQHLKEPSGPSELIPSSTFSAH
NRREEKEETLVIPTTTERPFIQKLFRPVAADGQLHTLGDLLKEVCPSAIDPEDGEKKNQVMIHGIEPMLETPLQWLSEHLSYPDNFLHIS

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

>50320_50320_4_LTV1-ATG5_LTV1_chr6_144167361_ENST00000367576_ATG5_chr6_106649964_ENST00000343245_length(amino acids)=187AA_BP=103
MPHRKKKPFIEKKKAVSFHLVHRSQRDPLAADESAPQRVLLPTQKIDNEERRAEQRKYGVFFDDDYDYLQHLKEPSGPSELIPSSTFSAH
NRREEKEETLVIPTTTERPFIQKLFRPVAADGQLHTLGDLLKEVCPSAIDPEDGEKKNQVMIHGIEPMLETPLQWLSEHLSYPDNFLHIS

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

>50320_50320_5_LTV1-ATG5_LTV1_chr6_144167361_ENST00000367576_ATG5_chr6_106649964_ENST00000369070_length(amino acids)=187AA_BP=103
MPHRKKKPFIEKKKAVSFHLVHRSQRDPLAADESAPQRVLLPTQKIDNEERRAEQRKYGVFFDDDYDYLQHLKEPSGPSELIPSSTFSAH
NRREEKEETLVIPTTTERPFIQKLFRPVAADGQLHTLGDLLKEVCPSAIDPEDGEKKNQVMIHGIEPMLETPLQWLSEHLSYPDNFLHIS

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

>50320_50320_6_LTV1-ATG5_LTV1_chr6_144167361_ENST00000367576_ATG5_chr6_106649964_ENST00000369076_length(amino acids)=187AA_BP=103
MPHRKKKPFIEKKKAVSFHLVHRSQRDPLAADESAPQRVLLPTQKIDNEERRAEQRKYGVFFDDDYDYLQHLKEPSGPSELIPSSTFSAH
NRREEKEETLVIPTTTERPFIQKLFRPVAADGQLHTLGDLLKEVCPSAIDPEDGEKKNQVMIHGIEPMLETPLQWLSEHLSYPDNFLHIS

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

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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/chr6:144167361/chr6:106649964)
- 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
LTV1

Q96GA3

ATG5

Q9H1Y0

FUNCTION: Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is essential for both B and T lymphocyte survival and proliferation. Required for optimal processing and presentation of antigens for MHC II. Involved in the maintenance of axon morphology and membrane structures, as well as in normal adipocyte differentiation. Promotes primary ciliogenesis through removal of OFD1 from centriolar satellites and degradation of IFT20 via the autophagic pathway. {ECO:0000250|UniProtKB:Q99J83, ECO:0000269|PubMed:12207896, ECO:0000269|PubMed:20580051, ECO:0000269|PubMed:22170153, ECO:0000269|PubMed:26812546}.; FUNCTION: May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity. Plays a crucial role in IFN-gamma-induced autophagic cell death by interacting with FADD. {ECO:0000269|PubMed:15778222, ECO:0000269|PubMed:7796880}.; FUNCTION: (Microbial infection) May act as a proviral factor. In association with ATG12, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for initiation of HCV replication, but not required once infection is established (PubMed:19666601). {ECO:0000269|PubMed:17709747, ECO:0000269|PubMed:19666601}.

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
HgeneLTV1chr6:144167360chr6:106649963ENST00000367576+311418_475103.0476.0Coiled coilOntology_term=ECO:0000255
HgeneLTV1chr6:144167361chr6:106649964ENST00000367576+311418_475103.0476.0Coiled coilOntology_term=ECO:0000255
HgeneLTV1chr6:144167360chr6:106649963ENST00000367576+311137_214103.0476.0Compositional biasNote=Asp-rich
HgeneLTV1chr6:144167360chr6:106649963ENST00000367576+311330_335103.0476.0Compositional biasNote=Poly-Glu
HgeneLTV1chr6:144167361chr6:106649964ENST00000367576+311137_214103.0476.0Compositional biasNote=Asp-rich
HgeneLTV1chr6:144167361chr6:106649964ENST00000367576+311330_335103.0476.0Compositional biasNote=Poly-Glu


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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 >>>227_LTV1_144167361_ATG5_106649964_ranked_0.pdbLTV1144167360144167361ENST00000369076ATG5chr6106649964-
MPHRKKKPFIEKKKAVSFHLVHRSQRDPLAADESAPQRVLLPTQKIDNEERRAEQRKYGVFFDDDYDYLQHLKEPSGPSELIPSSTFSAH
NRREEKEETLVIPTTTERPFIQKLFRPVAADGQLHTLGDLLKEVCPSAIDPEDGEKKNQVMIHGIEPMLETPLQWLSEHLSYPDNFLHIS
187


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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.
LTV1_pLDDT.png
all structure
all structure
ATG5_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
LTV1
ATG5


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 LTV1-ATG5


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 LTV1-ATG5


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