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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: 1622

FusionGeneSummary for AMOTL1_PIWIL4

check button Fusion gene summary
Fusion gene informationFusion gene name: AMOTL1_PIWIL4
Fusion gene ID: 1622
HgeneTgene
Gene symbol

AMOTL1

PIWIL4

Gene ID

154810

143689

Gene nameangiomotin like 1piwi like RNA-mediated gene silencing 4
SynonymsJEAPHIWI2|MIWI2
Cytomap

11q21

11q21

Type of geneprotein-codingprotein-coding
Descriptionangiomotin-like protein 1junction-enriched and associated proteinpiwi-like protein 4piwi-like 4testis tissue sperm-binding protein Li 85P
Modification date2018052320180519
UniProtAcc

Q8IY63

Q7Z3Z4

Ensembl transtripts involved in fusion geneENST00000317829, ENST00000317837, 
ENST00000433060, ENST00000539727, 
ENST00000299001, ENST00000537419, 
Fusion gene scores* DoF score5 X 5 X 5=1252 X 1 X 2=4
# samples 62
** MAII scorelog2(6/125*10)=-1.05889368905357
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: AMOTL1 [Title/Abstract] AND PIWIL4 [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
TCGARVSARCTCGA-KD-A5QS-01AAMOTL1chr11

94501726

+PIWIL4chr11

94340605

+
* 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
Frame-shiftENST00000317829ENST00000299001AMOTL1chr11

94501726

+PIWIL4chr11

94340605

+
5CDS-intronENST00000317829ENST00000537419AMOTL1chr11

94501726

+PIWIL4chr11

94340605

+
Frame-shiftENST00000317837ENST00000299001AMOTL1chr11

94501726

+PIWIL4chr11

94340605

+
5CDS-intronENST00000317837ENST00000537419AMOTL1chr11

94501726

+PIWIL4chr11

94340605

+
Frame-shiftENST00000433060ENST00000299001AMOTL1chr11

94501726

+PIWIL4chr11

94340605

+
5CDS-intronENST00000433060ENST00000537419AMOTL1chr11

94501726

+PIWIL4chr11

94340605

+
intron-3CDSENST00000539727ENST00000299001AMOTL1chr11

94501726

+PIWIL4chr11

94340605

+
intron-intronENST00000539727ENST00000537419AMOTL1chr11

94501726

+PIWIL4chr11

94340605

+

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FusionProtFeatures for AMOTL1_PIWIL4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AMOTL1

Q8IY63

PIWIL4

Q7Z3Z4

Inhibits the Wnt/beta-catenin signaling pathway,probably by recruiting CTNNB1 to recycling endosomes and hencepreventing its translocation to the nucleus.{ECO:0000269|PubMed:22362771}. Plays a central role during spermatogenesis byrepressing transposable elements and preventing theirmobilization, which is essential for the germline integrity (Bysimilarity). Acts via the piRNA metabolic process, which mediatesthe repression of transposable elements during meiosis by formingcomplexes composed of piRNAs and Piwi proteins and governs themethylation and subsequent repression of transposons (Bysimilarity). Directly binds piRNAs, a class of 24 to 30 nucleotideRNAs that are generated by a Dicer-independent mechanism and areprimarily derived from transposons and other repeated sequenceelements (By similarity). Associates with secondary piRNAsantisense and PIWIL2/MILI is required for such association (Bysimilarity). The piRNA process acts upstream of known mediators ofDNA methylation (By similarity). Does not show endonucleaseactivity (By similarity). Plays a key role in the piRNAamplification loop, also named ping-pong amplification cycle, byacting as a 'slicer-incompetent' component that loads cleavedpiRNAs from the 'slicer-competent' component PIWIL2 and targetthem on genomic transposon loci in the nucleus (By similarity).May be involved in the chromatin-modifying pathway by inducing'Lys-9' methylation of histone H3 at some loci (PubMed:17544373).{ECO:0000250|UniProtKB:Q8CGT6, ECO:0000269|PubMed:17544373}.

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 AMOTL1_PIWIL4


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 AMOTL1_PIWIL4


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
AMOTL1AMOT, NEDD4L, LATS1, LATS2, YAP1, HECW2, NEDD4, WWOX, SHMT2, MOV10, NXF1, SUZ12, FHL3, MAGEA4, WWP2, TEAD4, RAB3IL1, WWTR1, RNF166, NF2, MPP5, CAPZA2, COG6, ALOX5, IFFO1, COBLL1, CDADC1, SCML1, HMBOX1, DDHD1, TLK2, UHRF1BP1L, WWC1, USP9XPIWIL4DICER1, RELA


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 AMOTL1_PIWIL4


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 AMOTL1_PIWIL4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePIWIL4C0028960Oligospermia1CTD_human