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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: 13106

FusionGeneSummary for FBXL20_SOX5

check button Fusion gene summary
Fusion gene informationFusion gene name: FBXL20_SOX5
Fusion gene ID: 13106
HgeneTgene
Gene symbol

FBXL20

SOX5

Gene ID

84961

6660

Gene nameF-box and leucine rich repeat protein 20SRY-box 5
SynonymsFbl2|Fbl20L-SOX5|L-SOX5B|L-SOX5F|LAMSHF
Cytomap

17q12

12p12.1

Type of geneprotein-codingprotein-coding
DescriptionF-box/LRR-repeat protein 20F-box protein FBL2transcription factor SOX-5SRY (sex determining region Y)-box 5
Modification date2018052320180523
UniProtAcc

Q96IG2

P35711

Ensembl transtripts involved in fusion geneENST00000583610, ENST00000394294, 
ENST00000264658, ENST00000577399, 
ENST00000546136, ENST00000381381, 
ENST00000309359, ENST00000451604, 
ENST00000537393, ENST00000541536, 
ENST00000396007, ENST00000545921, 
ENST00000541847, ENST00000441133, 
ENST00000536850, 
Fusion gene scores* DoF score40 X 12 X 14=67207 X 7 X 5=245
# samples 389
** MAII scorelog2(38/6720*10)=-4.14438990933518
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/245*10)=-1.4447848426729
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FBXL20 [Title/Abstract] AND SOX5 [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
TgeneSOX5

GO:0032332

positive regulation of chondrocyte differentiation

21401405

TgeneSOX5

GO:0061036

positive regulation of cartilage development

21401405

TgeneSOX5

GO:0071560

cellular response to transforming growth factor beta stimulus

21401405

TgeneSOX5

GO:2000741

positive regulation of mesenchymal stem cell differentiation

21401405


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
TCGALDBRCATCGA-OL-A5RZ-01AFBXL20chr17

37414558

-SOX5chr12

23699358

-
* 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
intron-3CDSENST00000583610ENST00000546136FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000583610ENST00000381381FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000583610ENST00000309359FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000583610ENST00000451604FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000583610ENST00000537393FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000583610ENST00000541536FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000583610ENST00000396007FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000583610ENST00000545921FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-intronENST00000583610ENST00000541847FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-intronENST00000583610ENST00000441133FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-intronENST00000583610ENST00000536850FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000394294ENST00000546136FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000394294ENST00000381381FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000394294ENST00000309359FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000394294ENST00000451604FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000394294ENST00000537393FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000394294ENST00000541536FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000394294ENST00000396007FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000394294ENST00000545921FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-intronENST00000394294ENST00000541847FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-intronENST00000394294ENST00000441133FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-intronENST00000394294ENST00000536850FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000264658ENST00000546136FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000264658ENST00000381381FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000264658ENST00000309359FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000264658ENST00000451604FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000264658ENST00000537393FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000264658ENST00000541536FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000264658ENST00000396007FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000264658ENST00000545921FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-intronENST00000264658ENST00000541847FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-intronENST00000264658ENST00000441133FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-intronENST00000264658ENST00000536850FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000577399ENST00000546136FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000577399ENST00000381381FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000577399ENST00000309359FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000577399ENST00000451604FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000577399ENST00000537393FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000577399ENST00000541536FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000577399ENST00000396007FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-3CDSENST00000577399ENST00000545921FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-intronENST00000577399ENST00000541847FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-intronENST00000577399ENST00000441133FBXL20chr17

37414558

-SOX5chr12

23699358

-
intron-intronENST00000577399ENST00000536850FBXL20chr17

37414558

-SOX5chr12

23699358

-

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FusionProtFeatures for FBXL20_SOX5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FBXL20

Q96IG2

SOX5

P35711

Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Role in neuraltransmission (By similarity). {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 FBXL20_SOX5


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 FBXL20_SOX5


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
FBXL20CUL1, KRAS, YPEL3, PVR, YPEL1, RABGGTBSOX5SOX2, APP, CDK6, SMAD7, SMAD1, SMAD5, FTH1, CDC25A, RPS2, TTC1, UQCRFS1, MED27, TAF6, AES, CRX, KIFC3, LMO1, LMO2, SOX5, CDC23, KAT5, ARID5A, ZNF581, CBX8, FAM46B, PRR20A, MORN3, SUMO1P1, CEP85, SOX6, SOX13, SOX1, ANKRD40, SOX11


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 FBXL20_SOX5


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 FBXL20_SOX5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSOX5C0004238Atrial Fibrillation1CTD_human
TgeneSOX5C0036341Schizophrenia1PSYGENET
TgeneSOX5C1510586Autism Spectrum Disorders1CTD_human