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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: 27030

FusionGeneSummary for PHTF2_BET1

check button Fusion gene summary
Fusion gene informationFusion gene name: PHTF2_BET1
Fusion gene ID: 27030
HgeneTgene
Gene symbol

PHTF2

BET1

Gene ID

57157

10282

Gene nameputative homeodomain transcription factor 2Bet1 golgi vesicular membrane trafficking protein
Synonyms-HBET1
Cytomap

7q11.23-q21.11

7q21.3

Type of geneprotein-codingprotein-coding
Descriptionputative homeodomain transcription factor 2BET1 homologBet1p homologGolgi vesicular membrane trafficking protein p18blocked early in transport 1 homologgolgi vesicular membrane-trafficking protein p18
Modification date2018051920180519
UniProtAcc

Q8N3S3

O15155

Ensembl transtripts involved in fusion geneENST00000422959, ENST00000307305, 
ENST00000424760, ENST00000415251, 
ENST00000275575, ENST00000450574, 
ENST00000416283, ENST00000248550, 
ENST00000454592, 		ENST00000471446, 
ENST00000222547, ENST00000433727, 
ENST00000425626, 
Fusion gene scores* DoF score5 X 4 X 4=802 X 2 X 2=8
# samples 52
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: PHTF2 [Title/Abstract] AND BET1 [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
TCGARVBLCATCGA-BT-A20J-01APHTF2chr7

77539726

+BET1chr7

93628606

-
* 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-intronENST00000422959ENST00000471446PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000422959ENST00000222547PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000422959ENST00000433727PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000422959ENST00000425626PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000307305ENST00000471446PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000307305ENST00000222547PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000307305ENST00000433727PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000307305ENST00000425626PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000424760ENST00000471446PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000424760ENST00000222547PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000424760ENST00000433727PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000424760ENST00000425626PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000415251ENST00000471446PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000415251ENST00000222547PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000415251ENST00000433727PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000415251ENST00000425626PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000275575ENST00000471446PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000275575ENST00000222547PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000275575ENST00000433727PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000275575ENST00000425626PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000450574ENST00000471446PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000450574ENST00000222547PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000450574ENST00000433727PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000450574ENST00000425626PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000416283ENST00000471446PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000416283ENST00000222547PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000416283ENST00000433727PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000416283ENST00000425626PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000248550ENST00000471446PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000248550ENST00000222547PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000248550ENST00000433727PHTF2chr7

77539726

+BET1chr7

93628606

-
5CDS-intronENST00000248550ENST00000425626PHTF2chr7

77539726

+BET1chr7

93628606

-
3UTR-intronENST00000454592ENST00000471446PHTF2chr7

77539726

+BET1chr7

93628606

-
3UTR-intronENST00000454592ENST00000222547PHTF2chr7

77539726

+BET1chr7

93628606

-
3UTR-intronENST00000454592ENST00000433727PHTF2chr7

77539726

+BET1chr7

93628606

-
3UTR-intronENST00000454592ENST00000425626PHTF2chr7

77539726

+BET1chr7

93628606

-

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FusionProtFeatures for PHTF2_BET1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PHTF2

Q8N3S3

BET1

O15155

Required for vesicular transport from the ER to theGolgi complex. Functions as a SNARE involved in the dockingprocess of ER-derived vesicles with the cis-Golgi membrane (Bysimilarity). {ECO:0000250}.

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 PHTF2_BET1


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 PHTF2_BET1


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
PHTF2ELAVL1, LYPD3, GPR156, TRIM25BET1USHBP1, USO1, GOSR1, STX5, ACIN1, MAGEA6, STX4, BCL2L13, CCDC155, FAM9B, STX18, NAPA, STX12, STX7, TCTN2, TCTN3, TMEM17, TMEM216, SEC22B, TRDN, IL20RA, HAUS1, MANSC1, CD97


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 PHTF2_BET1


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 PHTF2_BET1


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