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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:FAM107B-PPP1R12A (FusionGDB2 ID:HG83641TG4659)

Fusion Gene Summary for FAM107B-PPP1R12A

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM107B-PPP1R12A
Fusion gene ID: hg83641tg4659
HgeneTgene
Gene symbol

FAM107B

PPP1R12A

Gene ID

83641

4659

Gene namefamily with sequence similarity 107 member Bprotein phosphatase 1 regulatory subunit 12A
SynonymsC10orf45|HITSGUBS|M130|MBS|MYPT1
Cytomap('FAM107B')('PPP1R12A')

10p13

12q21.2-q21.31

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM107BFAM107B/CDNF fusionheat shock-inducible tumor small proteinprotein phosphatase 1 regulatory subunit 12Amyosin binding subunitmyosin phosphatase, target subunit 1myosin phosphatase-targeting subunit 1protein phosphatase 1, regulatory (inhibitor) subunit 12Aprotein phosphatase myosin-binding subunit
Modification date2020031320200328
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000378467, ENST00000468747, 
ENST00000471815, ENST00000181796, 
ENST00000378458, ENST00000378462, 
ENST00000378465, ENST00000378470, 
ENST00000478076, ENST00000479731, 
ENST00000496330, 
Fusion gene scores* DoF score10 X 8 X 3=2409 X 6 X 6=324
# samples 109
** MAII scorelog2(10/240*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/324*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM107B [Title/Abstract] AND PPP1R12A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFAM107B(14646239)-PPP1R12A(80266718), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgenePPP1R12A

GO:0030155

regulation of cell adhesion

20354225

TgenePPP1R12A

GO:0035507

regulation of myosin-light-chain-phosphatase activity

20354225

TgenePPP1R12A

GO:0043086

negative regulation of catalytic activity

19245366

TgenePPP1R12A

GO:0045944

positive regulation of transcription by RNA polymerase II

19245366



check button Fusion gene information
* 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
ChimerDB4STADTCGA-FP-8209-01AFAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-


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Fusion Gene ORF analysis for FAM107B-PPP1R12A

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
5UTR-3CDSENST00000378467ENST00000261207FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
5UTR-3CDSENST00000378467ENST00000437004FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
5UTR-3CDSENST00000378467ENST00000450142FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
5UTR-3CDSENST00000468747ENST00000261207FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
5UTR-3CDSENST00000468747ENST00000437004FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
5UTR-3CDSENST00000468747ENST00000450142FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
5UTR-3CDSENST00000471815ENST00000261207FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
5UTR-3CDSENST00000471815ENST00000437004FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
5UTR-3CDSENST00000471815ENST00000450142FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
5UTR-5UTRENST00000378467ENST00000546369FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
5UTR-5UTRENST00000378467ENST00000550107FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
5UTR-5UTRENST00000468747ENST00000546369FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
5UTR-5UTRENST00000468747ENST00000550107FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
5UTR-5UTRENST00000471815ENST00000546369FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
5UTR-5UTRENST00000471815ENST00000550107FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000181796ENST00000261207FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000181796ENST00000437004FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000181796ENST00000450142FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000378458ENST00000261207FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000378458ENST00000437004FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000378458ENST00000450142FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000378462ENST00000261207FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000378462ENST00000437004FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000378462ENST00000450142FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000378465ENST00000261207FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000378465ENST00000437004FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000378465ENST00000450142FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000378470ENST00000261207FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000378470ENST00000437004FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000378470ENST00000450142FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000478076ENST00000261207FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000478076ENST00000437004FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000478076ENST00000450142FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000479731ENST00000261207FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000479731ENST00000437004FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000479731ENST00000450142FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000496330ENST00000261207FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000496330ENST00000437004FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-3CDSENST00000496330ENST00000450142FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-5UTRENST00000181796ENST00000546369FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-5UTRENST00000181796ENST00000550107FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-5UTRENST00000378458ENST00000546369FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-5UTRENST00000378458ENST00000550107FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-5UTRENST00000378462ENST00000546369FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-5UTRENST00000378462ENST00000550107FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-5UTRENST00000378465ENST00000546369FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-5UTRENST00000378465ENST00000550107FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-5UTRENST00000378470ENST00000546369FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-5UTRENST00000378470ENST00000550107FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-5UTRENST00000478076ENST00000546369FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-5UTRENST00000478076ENST00000550107FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-5UTRENST00000479731ENST00000546369FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-5UTRENST00000479731ENST00000550107FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-5UTRENST00000496330ENST00000546369FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-
intron-5UTRENST00000496330ENST00000550107FAM107Bchr10

14646239

-PPP1R12Achr12

80266718

-

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 FAM107B-PPP1R12A


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)


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Fusion Protein Features for FAM107B-PPP1R12A


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:14646239/:80266718)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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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Fusion Gene Sequence for FAM107B-PPP1R12A


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 FAM107B-PPP1R12A


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 FAM107B-PPP1R12A


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 FAM107B-PPP1R12A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0036875Disorders of Sex Development1GENOMICS_ENGLAND
TgeneC0079541Holoprosencephaly1GENOMICS_ENGLAND
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND