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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: 28358

FusionGeneSummary for PPP1R1C_EIF2B2

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP1R1C_EIF2B2
Fusion gene ID: 28358
HgeneTgene
Gene symbol

PPP1R1C

EIF2B2

Gene ID

151242

8892

Gene nameprotein phosphatase 1 regulatory inhibitor subunit 1Ceukaryotic translation initiation factor 2B subunit beta
SynonymsIPP5EIF-2Bbeta|EIF2B
Cytomap

2q31.3-q32.1

14q24.3

Type of geneprotein-codingprotein-coding
Descriptionprotein phosphatase 1 regulatory subunit 1CPP1 inhibitor protein 5inhibitor-5 of protein phosphatase 1protein phosphatase 1 regulatory subunit 1Atranslation initiation factor eIF-2B subunit betaS20I15S20III15eIF-2B GDP-GTP exchange factor subunit betaeukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
Modification date2018052320180522
UniProtAcc

Q8WVI7

P49770

Ensembl transtripts involved in fusion geneENST00000475249, ENST00000452904, 
ENST00000409137, ENST00000280295, 
ENST00000409702, 
ENST00000266126, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 2=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PPP1R1C [Title/Abstract] AND EIF2B2 [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
TgeneEIF2B2

GO:0006413

translational initiation

16289705

TgeneEIF2B2

GO:0050852

T cell receptor signaling pathway

8626696


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
TCGALDSTADTCGA-BR-8289-01APPP1R1Cchr2

182819361

+EIF2B2chr14

75469978

+
* 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
3UTR-3CDSENST00000475249ENST00000266126PPP1R1Cchr2

182819361

+EIF2B2chr14

75469978

+
intron-3CDSENST00000452904ENST00000266126PPP1R1Cchr2

182819361

+EIF2B2chr14

75469978

+
intron-3CDSENST00000409137ENST00000266126PPP1R1Cchr2

182819361

+EIF2B2chr14

75469978

+
intron-3CDSENST00000280295ENST00000266126PPP1R1Cchr2

182819361

+EIF2B2chr14

75469978

+
intron-3CDSENST00000409702ENST00000266126PPP1R1Cchr2

182819361

+EIF2B2chr14

75469978

+

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FusionProtFeatures for PPP1R1C_EIF2B2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPP1R1C

Q8WVI7

EIF2B2

P49770

Inhibitor of protein-phosphatase 1. Promotes cell growthand cell cycle progress at the G1/S transition. May increase cellsusceptibility to TNF-induced apoptosis.{ECO:0000269|PubMed:18310074, ECO:0000269|PubMed:19874272}. Catalyzes the exchange of eukaryotic initiation factor2-bound GDP for GTP.

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 PPP1R1C_EIF2B2


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 PPP1R1C_EIF2B2


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
PPP1R1CEIF2B2CCT3, EIF2B5, DCC, APP, EIF2B4, EIF2B3, EIF2B1, EGFR, CSNK2A2, ABCF1, C14orf166, RTCB, NELFB, YBX3, DDX1, DHX9, DIMT1, EDC4, FKBP3, EIF3K, HNRNPA2B1, HNRNPM, HNRNPU, IGF2BP3, ILF2, MRE11A, NMT1, PTBP1, QARS, RFC4, SPTBN1, WNK1, YBX1, MRFAP1L1, C9orf72, VTI1B, EFNB2, STX12, CA14, GPR183, IGSF8, PNKD, P2RX4, OPN3, SPN, PTGER3, PVRL4, EPB41L3, EIF5, PCGF6, XPO1, RPL10, UBA52, EXOG, GYPB, GOLM1, SIGLECL1, UBB, EPHA1, SLC10A7, B3GALNT2, SYT1, KIAA1919, VAMP3, SLC27A2, ENPP1, SMDT1, BZW2, MCU, DLD


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 PPP1R1C_EIF2B2


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 PPP1R1C_EIF2B2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEIF2B2C1858991Childhood Ataxia with Central Nervous System Hypomyelinization5ORPHANET;UNIPROT
TgeneEIF2B2C1847967OVARIOLEUKODYSTROPHY1CTD_human;ORPHANET