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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: 13067

FusionGeneSummary for FBXL18_PHF12

check button Fusion gene summary
Fusion gene informationFusion gene name: FBXL18_PHF12
Fusion gene ID: 13067
HgeneTgene
Gene symbol

FBXL18

PHF12

Gene ID

80028

57649

Gene nameF-box and leucine rich repeat protein 18PHD finger protein 12
SynonymsFbl18PF1
Cytomap

7p22.1

17q11.2

Type of geneprotein-codingprotein-coding
DescriptionF-box/LRR-repeat protein 18PHD finger protein 12PHD factor 1PHD zinc finger transcription factor
Modification date2018052320180523
UniProtAcc

Q96ME1

Q96QT6

Ensembl transtripts involved in fusion geneENST00000382368, ENST00000453700, 
ENST00000332830, ENST00000577226, 
ENST00000268756, ENST00000582655, 
Fusion gene scores* DoF score8 X 6 X 6=2887 X 6 X 5=210
# samples 98
** MAII scorelog2(9/288*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/210*10)=-1.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FBXL18 [Title/Abstract] AND PHF12 [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
TgenePHF12

GO:0000122

negative regulation of transcription by RNA polymerase II

22048773

TgenePHF12

GO:0045892

negative regulation of transcription, DNA-templated

11390640


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
TCGARVESCATCGA-LN-A8HZ-01AFBXL18chr7

5540119

-PHF12chr17

27238255

-
* 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-shiftENST00000382368ENST00000332830FBXL18chr7

5540119

-PHF12chr17

27238255

-
Frame-shiftENST00000382368ENST00000577226FBXL18chr7

5540119

-PHF12chr17

27238255

-
5CDS-intronENST00000382368ENST00000268756FBXL18chr7

5540119

-PHF12chr17

27238255

-
5CDS-5UTRENST00000382368ENST00000582655FBXL18chr7

5540119

-PHF12chr17

27238255

-
Frame-shiftENST00000453700ENST00000332830FBXL18chr7

5540119

-PHF12chr17

27238255

-
Frame-shiftENST00000453700ENST00000577226FBXL18chr7

5540119

-PHF12chr17

27238255

-
5CDS-intronENST00000453700ENST00000268756FBXL18chr7

5540119

-PHF12chr17

27238255

-
5CDS-5UTRENST00000453700ENST00000582655FBXL18chr7

5540119

-PHF12chr17

27238255

-

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FusionProtFeatures for FBXL18_PHF12


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FBXL18

Q96ME1

PHF12

Q96QT6

Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. {ECO:0000250}. Acts as a transcriptional repressor. Involved inrecruitment of functional SIN3A complexes to DNA. Repressestranscription at least in part through the activity of anassociated histone deacetylase (HDAC). May also represstranscription in a SIN3A-independent manner through recruitment offunctional AES complexes to DNA. {ECO:0000269|PubMed:11390640,ECO:0000303|PubMed:11390640}.

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 FBXL18_PHF12


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 FBXL18_PHF12


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
FBXL18KRTAP4-12, CALCOCO2, PLSCR1, CUL1, COPS5, COPS6, CHMP1A, HSP90AA1, MDFI, ACSF3, NEDD4, FHL3, GOLGA2, HNRNPK, PSMA3, TFCP2, TRAF1, PSTPIP1, PNMA1, TRAF4, RBPMS, MID2, WWP1, WWP2, MTUS2, KRT40, KRTAP10-3, NOTCH2NL, EZH2, GNA11, MAGEA1, NTRK1, FBXL7, IRGC, MOCS3, LYPD4, FBXL16, SKP2, TBL1Y, TRIM25, UHRF2PHF12SIN3A, HDAC1, SAP30, MORF4L1, MORF4L2, BRCA1, HIST3H3, GATAD1, RBBP7, HDAC2, KDM5A, S100A4, SIN3B, C11orf30, SPICE1, ZNF281, ZNF131, QSER1, CHD9, PHF12, TUBA4A, ZNF143, DPM1, ZNF335, RBFOX2, RBFOX1, H2AFY, BAG2, HSPB1, NFE2L1, TUBB8, DNAJA3, SENP1, ABCF2, GPATCH8, ABCG2


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 FBXL18_PHF12


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 FBXL18_PHF12


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