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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: 26649

FusionGeneSummary for PELI1_ACTG2

check button Fusion gene summary
Fusion gene informationFusion gene name: PELI1_ACTG2
Fusion gene ID: 26649
HgeneTgene
Gene symbol

PELI1

ACTG2

Gene ID

57162

72

Gene namepellino E3 ubiquitin protein ligase 1actin, gamma 2, smooth muscle, enteric
Synonyms-ACT|ACTA3|ACTE|ACTL3|ACTSG|VSCM
Cytomap

2p14

2p13.1

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase pellino homolog 1RING-type E3 ubiquitin transferase pellino homolog 1pellino homolog 1pellino-1pellino-related intracellular-signaling moleculeprotein pellino homolog 1actin, gamma-enteric smooth muscleactin-like proteinalpha-actin-3
Modification date2018052320180519
UniProtAcc

Q96FA3

P63267

Ensembl transtripts involved in fusion geneENST00000358912, ENST00000466177, 
ENST00000409731, ENST00000345517, 
ENST00000409918, ENST00000409624, 
Fusion gene scores* DoF score2 X 2 X 1=47 X 9 X 6=378
# samples 212
** MAII scorelog2(2/4*10)=2.32192809488736log2(12/378*10)=-1.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PELI1 [Title/Abstract] AND ACTG2 [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
TCGARVBRCATCGA-A8-A079-01APELI1chr2

64331835

-ACTG2chr2

74128403

+
* 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-5UTRENST00000358912ENST00000409731PELI1chr2

64331835

-ACTG2chr2

74128403

+
5CDS-5UTRENST00000358912ENST00000345517PELI1chr2

64331835

-ACTG2chr2

74128403

+
5CDS-5UTRENST00000358912ENST00000409918PELI1chr2

64331835

-ACTG2chr2

74128403

+
5CDS-5UTRENST00000358912ENST00000409624PELI1chr2

64331835

-ACTG2chr2

74128403

+
5UTR-5UTRENST00000466177ENST00000409731PELI1chr2

64331835

-ACTG2chr2

74128403

+
5UTR-5UTRENST00000466177ENST00000345517PELI1chr2

64331835

-ACTG2chr2

74128403

+
5UTR-5UTRENST00000466177ENST00000409918PELI1chr2

64331835

-ACTG2chr2

74128403

+
5UTR-5UTRENST00000466177ENST00000409624PELI1chr2

64331835

-ACTG2chr2

74128403

+

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FusionProtFeatures for PELI1_ACTG2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PELI1

Q96FA3

ACTG2

P63267

E3 ubiquitin ligase catalyzing the covalent attachmentof ubiquitin moieties onto substrate proteins. Involved in the TLRand IL-1 signaling pathways via interaction with the complexcontaining IRAK kinases and TRAF6. Mediates 'Lys-63'-linkedpolyubiquitination of IRAK1 allowing subsequent NF-kappa-Bactivation. {ECO:0000269|PubMed:12496252,ECO:0000269|PubMed:17675297}. Actins are highly conserved proteins that are involvedin various types of cell motility and are ubiquitously expressedin all eukaryotic cells.

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 PELI1_ACTG2


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 PELI1_ACTG2


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
PELI1IRAK1, IRAK4, IRAK2, RIPK1, UBE2I, UBC, TBK1, IKBKB, TRAF6, IL1R1, SMAD6, MYD88, NR2C2, UBE2N, UBE2V1, UBE2D1, UBE2D2, DEAF1, SRPK2, SRPK1, BCL6, TRIP13, VAC14, IRS1, BIRC3, MDM4ACTG2EMD, KAT5, CBL, NOP56, ARRB2, SHBG, LRRK2, MLH1, UBL4A, KCNMA1, ERRFI1, FOXRED2, FAF2, NEB, MCM2, ERBB3


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 PELI1_ACTG2


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 PELI1_ACTG2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePELI1C0037274Dermatologic disorders1CTD_human
HgenePELI1C0311375Arsenic Poisoning1CTD_human
TgeneACTG2C0042781Visceral Myopathy3UNIPROT
TgeneACTG2C1608393Megacystis microcolon intestinal hypoperistalsis syndrome2CTD_human;ORPHANET
TgeneACTG2C0009375Colonic Neoplasms1CTD_human
TgeneACTG2C0266833Visceral Myopathy, Familial1CTD_human;ORPHANET