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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: 43604

FusionGeneSummary for ZNF684_EIF2B3

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF684_EIF2B3
Fusion gene ID: 43604
HgeneTgene
Gene symbol

ZNF684

EIF2B3

Gene ID

127396

8891

Gene namezinc finger protein 684eukaryotic translation initiation factor 2B subunit gamma
Synonyms-EIF-2B|EIF2Bgamma
Cytomap

1p34.2

1p34.1

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 684hypothetical protein MGC27466translation initiation factor eIF-2B subunit gammaeIF-2B GDP-GTP exchange factor subunit gammaeukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
Modification date2018052320180519
UniProtAcc

Q5T5D7

Q9NR50

Ensembl transtripts involved in fusion geneENST00000372699, ENST00000372696, 
ENST00000372697, ENST00000493756, 
ENST00000360403, ENST00000372183, 
ENST00000480675, 
Fusion gene scores* DoF score2 X 1 X 2=47 X 5 X 6=210
# samples 27
** MAII scorelog2(2/4*10)=2.32192809488736log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZNF684 [Title/Abstract] AND EIF2B3 [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
TgeneEIF2B3

GO:0006413

translational initiation

10900014|16289705

TgeneEIF2B3

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
TCGARVTGCTTCGA-XY-A8S2-01AZNF684chr1

40998853

+EIF2B3chr1

45316675

-
* 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
In-frameENST00000372699ENST00000360403ZNF684chr1

40998853

+EIF2B3chr1

45316675

-
5CDS-intronENST00000372699ENST00000372183ZNF684chr1

40998853

+EIF2B3chr1

45316675

-
5CDS-intronENST00000372699ENST00000480675ZNF684chr1

40998853

+EIF2B3chr1

45316675

-
In-frameENST00000372696ENST00000360403ZNF684chr1

40998853

+EIF2B3chr1

45316675

-
5CDS-intronENST00000372696ENST00000372183ZNF684chr1

40998853

+EIF2B3chr1

45316675

-
5CDS-intronENST00000372696ENST00000480675ZNF684chr1

40998853

+EIF2B3chr1

45316675

-
In-frameENST00000372697ENST00000360403ZNF684chr1

40998853

+EIF2B3chr1

45316675

-
5CDS-intronENST00000372697ENST00000372183ZNF684chr1

40998853

+EIF2B3chr1

45316675

-
5CDS-intronENST00000372697ENST00000480675ZNF684chr1

40998853

+EIF2B3chr1

45316675

-
3UTR-3CDSENST00000493756ENST00000360403ZNF684chr1

40998853

+EIF2B3chr1

45316675

-
3UTR-intronENST00000493756ENST00000372183ZNF684chr1

40998853

+EIF2B3chr1

45316675

-
3UTR-intronENST00000493756ENST00000480675ZNF684chr1

40998853

+EIF2B3chr1

45316675

-

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FusionProtFeatures for ZNF684_EIF2B3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ZNF684

Q5T5D7

EIF2B3

Q9NR50

May be involved in transcriptional regulation. 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
HgeneZNF684chr1:40998853chr1:45316675ENST00000372699+258_795379DomainKRAB
HgeneZNF684chr1:40998853chr1:45316675ENST00000372699+25159_1815379Zinc fingerC2H2-type 1
HgeneZNF684chr1:40998853chr1:45316675ENST00000372699+25187_2095379Zinc fingerC2H2-type 2
HgeneZNF684chr1:40998853chr1:45316675ENST00000372699+25215_2375379Zinc fingerC2H2-type 3
HgeneZNF684chr1:40998853chr1:45316675ENST00000372699+25243_2655379Zinc fingerC2H2-type 4
HgeneZNF684chr1:40998853chr1:45316675ENST00000372699+25271_2935379Zinc fingerC2H2-type 5
HgeneZNF684chr1:40998853chr1:45316675ENST00000372699+25299_3215379Zinc fingerC2H2-type 6
HgeneZNF684chr1:40998853chr1:45316675ENST00000372699+25327_3495379Zinc fingerC2H2-type 7
HgeneZNF684chr1:40998853chr1:45316675ENST00000372699+25355_3775379Zinc fingerC2H2-type 8


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FusionGeneSequence for ZNF684_EIF2B3


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.
>In-frame_ZNF684_ENST00000372699_chr1_40998853_+_EIF2B3_ENST00000360403_chr1_45316675_-_22aa

>In-frame_ZNF684_ENST00000372696_chr1_40998853_+_EIF2B3_ENST00000360403_chr1_45316675_-_22aa

>In-frame_ZNF684_ENST00000372697_chr1_40998853_+_EIF2B3_ENST00000360403_chr1_45316675_-_22aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ZNF684_ENST00000372699_chr1_40998853_+_EIF2B3_ENST00000360403_chr1_45316675_-_68nt

>In-frame_ZNF684_ENST00000372696_chr1_40998853_+_EIF2B3_ENST00000360403_chr1_45316675_-_68nt

>In-frame_ZNF684_ENST00000372697_chr1_40998853_+_EIF2B3_ENST00000360403_chr1_45316675_-_68nt


* Fusion transcript sequences (Full-length transcript).
>In-frame_ZNF684_ENST00000372699_chr1_40998853_+_EIF2B3_ENST00000360403_chr1_45316675_-_492nt
ATGGGAAATGTGGTCTCCGACGGATGGCCTACACCCGGGAGGAGTCCAGGAACTCTAGGTGGACAGTTACTTCCGCACACGCGTAGTAGG
ACGGTAGCCGGTATTCAATCTTCAAATCAGCGCCGCGGGAAGTGCGGGCGGGTGTTGCTCCCCTGTCTCTGGACGACGCTGTGACTGATC
CCAGGCTTGGAGCCGGAGCTGCGAGCGAGGCAGTGAAAGGGTGGCAGATTTCTGTGTAAGAGCTGCAGAAAATGATCAGCTTCCAGCTAA
ACGAGTGAATGAGGTGATCGTGGGGAATGACCAGCTCATGGAGATCTGAGTTCTGAGCAAGTCAGACTCCTTCCTTTTGGCCTCCAAAGC
CACAGATGTTGGCCGGCCCACCTGTTTAACTCTGTATTTATTTCCCAATAAAGAAGGGCTTCCAAAGGCATGCTGGAGACTTGTGGAGCA

>In-frame_ZNF684_ENST00000372696_chr1_40998853_+_EIF2B3_ENST00000360403_chr1_45316675_-_390nt
ATTCAATCTTCAAATCAGCGCCGCGGGAAGTGCGGGCGGGTGTTGCTCCCCTGTCTCTGGACGACGCTGTGACTGATCCCAGGCTTGGAG
CCGGAGCTGCGAGCGAGGCAGTGAAAGGGTGGCAGATTTCTGTGTAAGAGCTGCAGAAAATGATCAGCTTCCAGCTAAACGAGTGAATGA
GGTGATCGTGGGGAATGACCAGCTCATGGAGATCTGAGTTCTGAGCAAGTCAGACTCCTTCCTTTTGGCCTCCAAAGCCACAGATGTTGG
CCGGCCCACCTGTTTAACTCTGTATTTATTTCCCAATAAAGAAGGGCTTCCAAAGGCATGCTGGAGACTTGTGGAGCAGTCCAAAGCTCC

>In-frame_ZNF684_ENST00000372697_chr1_40998853_+_EIF2B3_ENST00000360403_chr1_45316675_-_390nt
ATTCAATCTTCAAATCAGCGCCGCGGGAAGTGCGGGCGGGTGTTGCTCCCCTGTCTCTGGACGACGCTGTGACTGATCCCAGGCTTGGAG
CCGGAGCTGCGAGCGAGGCAGTGAAAGGGTGGCAGATTTCTGTGTAAGAGCTGCAGAAAATGATCAGCTTCCAGCTAAACGAGTGAATGA
GGTGATCGTGGGGAATGACCAGCTCATGGAGATCTGAGTTCTGAGCAAGTCAGACTCCTTCCTTTTGGCCTCCAAAGCCACAGATGTTGG
CCGGCCCACCTGTTTAACTCTGTATTTATTTCCCAATAAAGAAGGGCTTCCAAAGGCATGCTGGAGACTTGTGGAGCAGTCCAAAGCTCC


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FusionGenePPI for ZNF684_EIF2B3


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
ZNF684APP, GAPDHS, POTEE, MTMR4, RABL6, ASAH1, PHYKPLEIF2B3EIF2B1, STC2, NDUFB8, EIF2B5, EIF2B4, EIF2B2, EGFR, FBXO6, ABCF1, C14orf166, RTCB, NELFB, YBX3, DDX1, DHX9, DIMT1, EDC4, EIF3C, FKBP3, FLII, G3BP1, HNRNPM, HNRNPU, IGF2BP3, ILF2, MRE11A, NMT1, QARS, RFC4, VTI1B, STX12, ECH1, CA14, GPR183, PNKD, P2RX4, OPN3, SPN, PTGER3, SCN2B, PVRL4, HNRNPA1, XPO1, CDC42, ZWINT, GYPB, SYT1, SIGLECL1, EPHA1, TMEM206, UXS1, FZD10, CD70, CD4, HTR2C, SMDT1


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 ZNF684_EIF2B3


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 ZNF684_EIF2B3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEIF2B3C1858991Childhood Ataxia with Central Nervous System Hypomyelinization3ORPHANET;UNIPROT