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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: 1623

FusionGeneSummary for AMOTL1_PPIF

check button Fusion gene summary
Fusion gene informationFusion gene name: AMOTL1_PPIF
Fusion gene ID: 1623
HgeneTgene
Gene symbol

AMOTL1

PPIF

Gene ID

154810

10105

Gene nameangiomotin like 1peptidylprolyl isomerase F
SynonymsJEAPCYP3|CyP-M|Cyp-D|CypD
Cytomap

11q21

10q22.3

Type of geneprotein-codingprotein-coding
Descriptionangiomotin-like protein 1junction-enriched and associated proteinpeptidyl-prolyl cis-trans isomerase F, mitochondrialPPIase Fcyclophilin 3cyclophilin Dcyclophilin Fmitochondrial cyclophilinpeptidyl-prolyl cis-trans isomerase, mitochondrialrotamase F
Modification date2018052320180523
UniProtAcc

Q8IY63

P30405

Ensembl transtripts involved in fusion geneENST00000317829, ENST00000317837, 
ENST00000433060, ENST00000539727, 
ENST00000394579, ENST00000225174, 
ENST00000492149, 
Fusion gene scores* DoF score5 X 5 X 5=1251 X 1 X 1=1
# samples 61
** MAII scorelog2(6/125*10)=-1.05889368905357
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: AMOTL1 [Title/Abstract] AND PPIF [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
TgenePPIF

GO:0000413

protein peptidyl-prolyl isomerization

20676357

TgenePPIF

GO:0043066

negative regulation of apoptotic process

19228691

TgenePPIF

GO:0090201

negative regulation of release of cytochrome c from mitochondria

19228691


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
ChiTaRS3.1BF738681AMOTL1chr11

94533095

-PPIFchr10

81111311

-
* 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-shiftENST00000317829ENST00000394579AMOTL1chr11

94533095

-PPIFchr10

81111311

-
Frame-shiftENST00000317829ENST00000225174AMOTL1chr11

94533095

-PPIFchr10

81111311

-
5CDS-intronENST00000317829ENST00000492149AMOTL1chr11

94533095

-PPIFchr10

81111311

-
Frame-shiftENST00000317837ENST00000394579AMOTL1chr11

94533095

-PPIFchr10

81111311

-
Frame-shiftENST00000317837ENST00000225174AMOTL1chr11

94533095

-PPIFchr10

81111311

-
5CDS-intronENST00000317837ENST00000492149AMOTL1chr11

94533095

-PPIFchr10

81111311

-
Frame-shiftENST00000433060ENST00000394579AMOTL1chr11

94533095

-PPIFchr10

81111311

-
Frame-shiftENST00000433060ENST00000225174AMOTL1chr11

94533095

-PPIFchr10

81111311

-
5CDS-intronENST00000433060ENST00000492149AMOTL1chr11

94533095

-PPIFchr10

81111311

-
intron-3CDSENST00000539727ENST00000394579AMOTL1chr11

94533095

-PPIFchr10

81111311

-
intron-3CDSENST00000539727ENST00000225174AMOTL1chr11

94533095

-PPIFchr10

81111311

-
intron-intronENST00000539727ENST00000492149AMOTL1chr11

94533095

-PPIFchr10

81111311

-

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FusionProtFeatures for AMOTL1_PPIF


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

Q8IY63

PPIF

P30405

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}. PPIase that catalyzes the cis-trans isomerization ofproline imidic peptide bonds in oligopeptides and may thereforeassist protein folding (PubMed:20676357). Involved in regulationof the mitochondrial permeability transition pore (mPTP). It isproposed that its association with the mPTP is masking a bindingsite for inhibiting inorganic phosphate (Pi) and promotes the openprobability of the mPTP leading to apoptosis or necrosis; therequirement of the PPIase activity for this function is debated.In cooperation with mitochondrial TP53 is involved in activatingoxidative stress-induced necrosis. Involved in modulation ofmitochondrial membrane F(1)F(0) ATP synthase activity andregulation of mitochondrial matrix adenine nucleotide levels. Hasanti-apoptotic activity independently of mPTP and in cooperationwith BCL2 inhibits cytochrome c-dependent apoptosis.{ECO:0000269|PubMed:19228691, ECO:0000269|PubMed:20676357,ECO:0000269|PubMed:22726440, ECO:0000269|PubMed:26387735}.

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_PPIF


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_PPIF


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 AMOTL1_PPIF


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePPIFP30405DB00091CyclosporinePeptidyl-prolyl cis-trans isomerase F, mitochondrialsmall moleculeapproved|investigational|vet_approved

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RelatedDiseases for AMOTL1_PPIF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePPIFC0021831Intestinal Diseases1CTD_human
TgenePPIFC0041582Ulcer1CTD_human