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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: 19849

FusionGeneSummary for LLPH_ATG7

check button Fusion gene summary
Fusion gene informationFusion gene name: LLPH_ATG7
Fusion gene ID: 19849
HgeneTgene
Gene symbol

LLPH

ATG7

Gene ID

84298

10533

Gene nameLLP homolog, long-term synaptic facilitation factorautophagy related 7
SynonymsC12orf31|hLLPAPG7-LIKE|APG7L|GSA7
Cytomap

12q14.3

3p25.3

Type of geneprotein-codingprotein-coding
Descriptionprotein LLP homologLLP homolog, long-term synaptic facilitation (Aplysia)human LAPS18-like proteinubiquitin-like modifier-activating enzyme ATG7APG7 autophagy 7-likeATG12-activating enzyme E1 ATG7hAGP7ubiquitin-activating enzyme E1-like protein
Modification date2018052320180523
UniProtAcc

Q9BRT6

O95352

Ensembl transtripts involved in fusion geneENST00000266604, ENST00000446587, 
ENST00000446450, ENST00000354956, 
ENST00000354449, ENST00000469654, 
Fusion gene scores* DoF score5 X 5 X 2=5011 X 11 X 7=847
# samples 515
** MAII scorelog2(5/50*10)=0log2(15/847*10)=-2.49739946883632
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LLPH [Title/Abstract] AND ATG7 [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
TgeneATG7

GO:0006497

protein lipidation

12890687

TgeneATG7

GO:0009267

cellular response to starvation

20543840

TgeneATG7

GO:0031401

positive regulation of protein modification process

12890687

TgeneATG7

GO:0071455

cellular response to hyperoxia

20543840


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
ChiTaRS3.1BM550429LLPHchr12

66528914

+ATG7chr3

11529092

-
* 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
intron-intronENST00000266604ENST00000446450LLPHchr12

66528914

+ATG7chr3

11529092

-
intron-intronENST00000266604ENST00000354956LLPHchr12

66528914

+ATG7chr3

11529092

-
intron-intronENST00000266604ENST00000354449LLPHchr12

66528914

+ATG7chr3

11529092

-
intron-intronENST00000266604ENST00000469654LLPHchr12

66528914

+ATG7chr3

11529092

-
intron-intronENST00000446587ENST00000446450LLPHchr12

66528914

+ATG7chr3

11529092

-
intron-intronENST00000446587ENST00000354956LLPHchr12

66528914

+ATG7chr3

11529092

-
intron-intronENST00000446587ENST00000354449LLPHchr12

66528914

+ATG7chr3

11529092

-
intron-intronENST00000446587ENST00000469654LLPHchr12

66528914

+ATG7chr3

11529092

-

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FusionProtFeatures for LLPH_ATG7


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

Q9BRT6

ATG7

O95352

In hippocampal neurons, regulates dendritic and spinegrowth and synaptic transmission. {ECO:0000250|UniProtKB:Q9D945}. E1-like activating enzyme involved in the 2 ubiquitin-like systems required for cytoplasm to vacuole transport (Cvt) andautophagy. Activates ATG12 for its conjugation with ATG5 as wellas the ATG8 family proteins for their conjugation withphosphatidylethanolamine. Both systems are needed for the ATG8association to Cvt vesicles and autophagosomes membranes. Requiredfor autophagic death induced by caspase-8 inhibition. Required formitophagy which contributes to regulate mitochondrial quantity andquality by eliminating the mitochondria to a basal level tofulfill cellular energy requirements and preventing excess ROSproduction. Modulates p53/TP53 activity to regulate cell cycle andsurvival during metabolic stress. Plays also a key role in themaintenance of axonal homeostasis, the prevention of axonaldegeneration, the maintenance of hematopoietic stem cells, theformation of Paneth cell granules, as well as in adiposedifferentiation. {ECO:0000269|PubMed:11096062,ECO:0000269|PubMed:16303767, ECO:0000269|PubMed:22170151}.

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 LLPH_ATG7


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for LLPH_ATG7


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 LLPH_ATG7


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 LLPH_ATG7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneATG7C0002871Anemia1CTD_human
TgeneATG7C0023380Lethargy1CTD_human
TgeneATG7C0024312Lymphopenia1CTD_human
TgeneATG7C0027540Necrosis1CTD_human
TgeneATG7C1262477Weight decreased1CTD_human