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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:FAM120B-SFI1 (FusionGDB2 ID:28339)

Fusion Gene Summary for FAM120B-SFI1

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM120B-SFI1
Fusion gene ID: 28339
HgeneTgene
Gene symbol

FAM120B

SFI1

Gene ID

84498

9814

Gene namefamily with sequence similarity 120BSFI1 centrin binding protein
SynonymsCCPG|KIAA1838|PGCC1|SAN1|dJ894D12.1PISD|PPP1R139|hSfi1p
Cytomap

6q27

22q12.2

Type of geneprotein-codingprotein-coding
Descriptionconstitutive coactivator of peroxisome proliferator-activated receptor gammaPPARG constitutive coactivator 1PPARgamma constitutive coactivator 1constitutive coactivator of PPAR-gammasenataxin-associated nuclease 1protein SFI1 homologSfi1 homolog, spindle assembly associatedhomolog of yeast Sfi1protein phosphatase 1, regulatory subunit 139
Modification date2020031320200313
UniProtAcc

Q96EK7

.
Ensembl transtripts involved in fusion geneENST00000540480, ENST00000537664, 
ENST00000476287, ENST00000252510, 
ENST00000496635, 		ENST00000443326, 
ENST00000414585, ENST00000540643, 
ENST00000432498, ENST00000443011, 
ENST00000400289, ENST00000400288, 
ENST00000474741, 
Fusion gene scores* DoF score15 X 10 X 4=60012 X 11 X 6=792
# samples 1412
** MAII scorelog2(14/600*10)=-2.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/792*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM120B [Title/Abstract] AND SFI1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFAM120B(170632347)-SFI1(31942847), # samples:1
Anticipated loss of major functional domain due to fusion event.FAM120B-SFI1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
TgeneSFI1

GO:0010923

negative regulation of phosphatase activity

19389623


check buttonFusion gene breakpoints across FAM120B (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across SFI1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4CHOLTCGA-W5-AA34-01AFAM120Bchr6

170632347

-SFI1chr22

31942847

+


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Fusion Gene ORF analysis for FAM120B-SFI1

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-shiftENST00000540480ENST00000443326FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000540480ENST00000414585FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000540480ENST00000540643FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000540480ENST00000432498FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000540480ENST00000443011FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000540480ENST00000400289FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000540480ENST00000400288FAM120Bchr6

170632347

-SFI1chr22

31942847

+
5CDS-intronENST00000540480ENST00000474741FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000537664ENST00000443326FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000537664ENST00000414585FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000537664ENST00000540643FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000537664ENST00000432498FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000537664ENST00000443011FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000537664ENST00000400289FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000537664ENST00000400288FAM120Bchr6

170632347

-SFI1chr22

31942847

+
5CDS-intronENST00000537664ENST00000474741FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000476287ENST00000443326FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000476287ENST00000414585FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000476287ENST00000540643FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000476287ENST00000432498FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000476287ENST00000443011FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000476287ENST00000400289FAM120Bchr6

170632347

-SFI1chr22

31942847

+
Frame-shiftENST00000476287ENST00000400288FAM120Bchr6

170632347

-SFI1chr22

31942847

+
5CDS-intronENST00000476287ENST00000474741FAM120Bchr6

170632347

-SFI1chr22

31942847

+
intron-3CDSENST00000252510ENST00000443326FAM120Bchr6

170632347

-SFI1chr22

31942847

+
intron-3CDSENST00000252510ENST00000414585FAM120Bchr6

170632347

-SFI1chr22

31942847

+
intron-3CDSENST00000252510ENST00000540643FAM120Bchr6

170632347

-SFI1chr22

31942847

+
intron-3CDSENST00000252510ENST00000432498FAM120Bchr6

170632347

-SFI1chr22

31942847

+
intron-3CDSENST00000252510ENST00000443011FAM120Bchr6

170632347

-SFI1chr22

31942847

+
intron-3CDSENST00000252510ENST00000400289FAM120Bchr6

170632347

-SFI1chr22

31942847

+
intron-3CDSENST00000252510ENST00000400288FAM120Bchr6

170632347

-SFI1chr22

31942847

+
intron-intronENST00000252510ENST00000474741FAM120Bchr6

170632347

-SFI1chr22

31942847

+
intron-3CDSENST00000496635ENST00000443326FAM120Bchr6

170632347

-SFI1chr22

31942847

+
intron-3CDSENST00000496635ENST00000414585FAM120Bchr6

170632347

-SFI1chr22

31942847

+
intron-3CDSENST00000496635ENST00000540643FAM120Bchr6

170632347

-SFI1chr22

31942847

+
intron-3CDSENST00000496635ENST00000432498FAM120Bchr6

170632347

-SFI1chr22

31942847

+
intron-3CDSENST00000496635ENST00000443011FAM120Bchr6

170632347

-SFI1chr22

31942847

+
intron-3CDSENST00000496635ENST00000400289FAM120Bchr6

170632347

-SFI1chr22

31942847

+
intron-3CDSENST00000496635ENST00000400288FAM120Bchr6

170632347

-SFI1chr22

31942847

+
intron-intronENST00000496635ENST00000474741FAM120Bchr6

170632347

-SFI1chr22

31942847

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for FAM120B-SFI1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for FAM120B-SFI1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM120B

Q96EK7

.
FUNCTION: Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation (By similarity). {ECO:0000250}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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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Fusion Gene Sequence for FAM120B-SFI1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for FAM120B-SFI1


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


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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Related Drugs for FAM120B-SFI1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for FAM120B-SFI1


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