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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: 764

FusionGeneSummary for ADAMTSL1_ERV3-1

check button Fusion gene summary
Fusion gene informationFusion gene name: ADAMTSL1_ERV3-1
Fusion gene ID: 764
HgeneTgene
Gene symbol

ADAMTSL1

ERV3-1

Gene ID

92949

2086

Gene nameADAMTS like 1endogenous retrovirus group 3 member 1, envelope
SynonymsADAMTSL-1|ADAMTSR1|C9orf94|PUNCTINERV-R|ERV3|ERVR|HERV-R|HERVR|envR
Cytomap

9p22.2-p22.1

7q11.21

Type of geneprotein-codingprotein-coding
DescriptionADAMTS-like protein 1ADAM-TS related protein 1punctin-1endogenous retrovirus group 3 member 1 Env polyproteinERV-R envelope proteinERV3-1 envelope proteinHERV-R envelope proteinHERV-R_7q21.2 provirus ancestral Env polyproteinendogenous retroviral sequence 3endogenous retrovirus group 3, member 1
Modification date2018052220180519
UniProtAcc

Q8N6G6

Q14264

Ensembl transtripts involved in fusion geneENST00000380548, ENST00000380545, 
ENST00000327883, ENST00000431052, 
ENST00000380570, ENST00000380566, 
ENST00000276935, ENST00000496521, 
ENST00000394323, ENST00000528878, 
Fusion gene scores* DoF score2 X 2 X 2=81 X 1 X 1=1
# samples 21
** MAII scorelog2(2/8*10)=1.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: ADAMTSL1 [Title/Abstract] AND ERV3-1 [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

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
TCGALDLUSCTCGA-68-A59I-01AADAMTSL1chr9

18504954

+ERV3-1chr7

64453792

-
* 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
5CDS-5UTRENST00000380548ENST00000394323ADAMTSL1chr9

18504954

+ERV3-1chr7

64453792

-
5CDS-intronENST00000380548ENST00000528878ADAMTSL1chr9

18504954

+ERV3-1chr7

64453792

-
intron-5UTRENST00000380545ENST00000394323ADAMTSL1chr9

18504954

+ERV3-1chr7

64453792

-
intron-intronENST00000380545ENST00000528878ADAMTSL1chr9

18504954

+ERV3-1chr7

64453792

-
5CDS-5UTRENST00000327883ENST00000394323ADAMTSL1chr9

18504954

+ERV3-1chr7

64453792

-
5CDS-intronENST00000327883ENST00000528878ADAMTSL1chr9

18504954

+ERV3-1chr7

64453792

-
5CDS-5UTRENST00000431052ENST00000394323ADAMTSL1chr9

18504954

+ERV3-1chr7

64453792

-
5CDS-intronENST00000431052ENST00000528878ADAMTSL1chr9

18504954

+ERV3-1chr7

64453792

-
5CDS-5UTRENST00000380570ENST00000394323ADAMTSL1chr9

18504954

+ERV3-1chr7

64453792

-
5CDS-intronENST00000380570ENST00000528878ADAMTSL1chr9

18504954

+ERV3-1chr7

64453792

-
5CDS-5UTRENST00000380566ENST00000394323ADAMTSL1chr9

18504954

+ERV3-1chr7

64453792

-
5CDS-intronENST00000380566ENST00000528878ADAMTSL1chr9

18504954

+ERV3-1chr7

64453792

-
5CDS-5UTRENST00000276935ENST00000394323ADAMTSL1chr9

18504954

+ERV3-1chr7

64453792

-
5CDS-intronENST00000276935ENST00000528878ADAMTSL1chr9

18504954

+ERV3-1chr7

64453792

-
intron-5UTRENST00000496521ENST00000394323ADAMTSL1chr9

18504954

+ERV3-1chr7

64453792

-
intron-intronENST00000496521ENST00000528878ADAMTSL1chr9

18504954

+ERV3-1chr7

64453792

-

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FusionProtFeatures for ADAMTSL1_ERV3-1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ADAMTSL1

Q8N6G6

ERV3-1

Q14264

Retroviral envelope proteins mediate receptorrecognition and membrane fusion during early infection. Endogenousenvelope proteins may have kept, lost or modified their originalfunction during evolution. This endogenous envelope protein haslost its fusogenic properties. It can inhibit cell growth throughdecrease expression of cyclin B1 and increased expression of p21in vitro. {ECO:0000269|PubMed:10692254,ECO:0000269|PubMed:14557543, ECO:0000269|PubMed:7645262}. SU mediates receptor recognition. {ECO:0000250}. TM anchors the envelope heterodimer to the viralmembrane through one transmembrane domain. The other hydrophobicdomain, called fusion peptide, mediates fusion of the viralmembrane with the target cell membrane (By similarity).{ECO:0000250}.

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 ADAMTSL1_ERV3-1


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 ADAMTSL1_ERV3-1


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
ADAMTSL1B3GALTL, FHL2, RSPRY1, C2orf44, ACOX1, FBN2, GRNERV3-1HECW2


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 ADAMTSL1_ERV3-1


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 ADAMTSL1_ERV3-1


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