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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:FAM177A1-PSMA6 (FusionGDB2 ID:HG283635TG5687)

Fusion Gene Summary for FAM177A1-PSMA6

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM177A1-PSMA6
Fusion gene ID: hg283635tg5687
HgeneTgene
Gene symbol

FAM177A1

PSMA6

Gene ID

283635

5687

Gene namefamily with sequence similarity 177 member A1proteasome 20S subunit alpha 6
SynonymsC14orf24IOTA|PROS27|p27K
Cytomap('FAM177A1')('PSMA6')

14q13.2

14q13.2

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM177A1proteasome subunit alpha type-627 kDa prosomal proteinPROS-27macropain iota chainmacropain subunit iotamulticatalytic endopeptidase complex iota chainprosomal P27K proteinproteasome (prosome, macropain) subunit, alpha type, 6proteasome iota chain
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000554052, ENST00000280987, 
ENST00000382406, ENST00000396472, 
ENST00000554052, ENST00000280987, 
ENST00000382406, ENST00000396472, 
Fusion gene scores* DoF score6 X 7 X 5=21012 X 9 X 7=756
# samples 912
** MAII scorelog2(9/210*10)=-1.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/756*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM177A1 [Title/Abstract] AND PSMA6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFAM177A1(35515834)-PSMA6(35786455), # samples:2
Anticipated loss of major functional domain due to fusion event.FAM177A1-PSMA6 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
FAM177A1-PSMA6 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
PSMA6-FAM177A1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
PSMA6-FAM177A1 seems lost the major protein functional domain in Hgene 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

check buttonFusion gene breakpoints across FAM177A1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across PSMA6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4CESCTCGA-C5-A3HD-01BFAM177A1chr14

35515834

+PSMA6chr14

35786455

+


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Fusion Gene ORF analysis for FAM177A1-PSMA6

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
3UTR-3CDSENST00000554052ENST00000261479FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
3UTR-3CDSENST00000554052ENST00000540871FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
3UTR-3CDSENST00000554052ENST00000553809FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
3UTR-3CDSENST00000554052ENST00000555764FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
3UTR-3CDSENST00000554052ENST00000556506FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
Frame-shiftENST00000280987ENST00000540871FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
Frame-shiftENST00000280987ENST00000553809FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
Frame-shiftENST00000280987ENST00000555764FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
Frame-shiftENST00000382406ENST00000540871FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
Frame-shiftENST00000382406ENST00000553809FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
Frame-shiftENST00000382406ENST00000555764FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
Frame-shiftENST00000396472ENST00000540871FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
Frame-shiftENST00000396472ENST00000553809FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
Frame-shiftENST00000396472ENST00000555764FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
In-frameENST00000280987ENST00000261479FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
In-frameENST00000280987ENST00000556506FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
In-frameENST00000382406ENST00000261479FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
In-frameENST00000382406ENST00000556506FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
In-frameENST00000396472ENST00000261479FAM177A1chr14

35515834

+PSMA6chr14

35786455

+
In-frameENST00000396472ENST00000556506FAM177A1chr14

35515834

+PSMA6chr14

35786455

+

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)
ENST00000396472FAM177A1chr1435515834+ENST00000261479PSMA6chr1435786455+78155531159895
ENST00000396472FAM177A1chr1435515834+ENST00000556506PSMA6chr1435786455+72655531159895
ENST00000382406FAM177A1chr1435515834+ENST00000261479PSMA6chr1435786455+3791534021056
ENST00000382406FAM177A1chr1435515834+ENST00000556506PSMA6chr1435786455+3241534021056
ENST00000280987FAM177A1chr1435515834+ENST00000261479PSMA6chr1435786455+4522262628385
ENST00000280987FAM177A1chr1435515834+ENST00000556506PSMA6chr1435786455+3972262628385

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
ENST00000396472ENST00000261479FAM177A1chr1435515834+PSMA6chr1435786455+0.37417330.62582666
ENST00000396472ENST00000556506FAM177A1chr1435515834+PSMA6chr1435786455+0.236285030.76371497
ENST00000382406ENST00000261479FAM177A1chr1435515834+PSMA6chr1435786455+0.130628650.8693714
ENST00000382406ENST00000556506FAM177A1chr1435515834+PSMA6chr1435786455+0.0798428650.92015713
ENST00000280987ENST00000261479FAM177A1chr1435515834+PSMA6chr1435786455+0.122420660.87757933
ENST00000280987ENST00000556506FAM177A1chr1435515834+PSMA6chr1435786455+0.0920598360.90794015

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Fusion Genomic Features for FAM177A1-PSMA6


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)
FAM177A1chr1435515834+PSMA6chr1435786454+5.72E-091
FAM177A1chr1435515834+PSMA6chr1435786454+5.72E-091

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.
genomic feature

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.
genomic feature of top 1%

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Fusion Protein Features for FAM177A1-PSMA6


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/chr14:35515834/chr14:35786455)
- 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
HgeneFAM177A1chr14:35515834chr14:35786455ENST00000280987+15136_17355237.0Coiled coilOntology_term=ECO:0000255
HgeneFAM177A1chr14:35515834chr14:35786455ENST00000382406+26136_17332214.0Coiled coilOntology_term=ECO:0000255
HgeneFAM177A1chr14:35515834chr14:35786455ENST00000396472+37136_17332214.0Coiled coilOntology_term=ECO:0000255


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Fusion Gene Sequence for FAM177A1-PSMA6


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.
>28739_28739_1_FAM177A1-PSMA6_FAM177A1_chr14_35515834_ENST00000280987_PSMA6_chr14_35786455_ENST00000261479_length(transcript)=452nt_BP=226nt
GCGGGTGAGTCCCACTTCCCGACAGCCTGGCTCGGCCAGCGACTGGGCGGGGAGACCAAGGATGGAAGTGGGCTTACCGGCCATTACCCT
CTTTCTCACCAGCGCCAGCAGCCCTGTGGTGGCGACGACGATGGACCAGGAGCCAGTGGGCGGTGTGGAACGAGGAGAAGCCGTCGCAGC
CTCGGGAGCTGCGGCCGCCGCGGCATTCGGGGAATCTGCAGGGCAGGATTCTTACAGAAGCAGAGATTGATGCTCACCTTGTTGCTCTAG
CAGAGAGAGACTAAACATTGTCGTTAGTTTACCAGATCCGTGATGCCACTTACCTGTGTGTTTGGTAACAACAAACCAACATCATGGAGG
TCCCTGGATTGAAAAAGGAGCCTCTCCCACTCCTCCTACCACCGAAGTGGTTAGGACTCTATATAAATAAAAACAAGGCTTTTGGAAAAT

>28739_28739_1_FAM177A1-PSMA6_FAM177A1_chr14_35515834_ENST00000280987_PSMA6_chr14_35786455_ENST00000261479_length(amino acids)=85AA_BP=1

--------------------------------------------------------------
>28739_28739_2_FAM177A1-PSMA6_FAM177A1_chr14_35515834_ENST00000280987_PSMA6_chr14_35786455_ENST00000556506_length(transcript)=397nt_BP=226nt
GCGGGTGAGTCCCACTTCCCGACAGCCTGGCTCGGCCAGCGACTGGGCGGGGAGACCAAGGATGGAAGTGGGCTTACCGGCCATTACCCT
CTTTCTCACCAGCGCCAGCAGCCCTGTGGTGGCGACGACGATGGACCAGGAGCCAGTGGGCGGTGTGGAACGAGGAGAAGCCGTCGCAGC
CTCGGGAGCTGCGGCCGCCGCGGCATTCGGGGAATCTGCAGGGCAGGATTCTTACAGAAGCAGAGATTGATGCTCACCTTGTTGCTCTAG
CAGAGAGAGACTAAACATTGTCGTTAGTTTACCAGATCCGTGATGCCACTTACCTGTGTGTTTGGTAACAACAAACCAACATCATGGAGG

>28739_28739_2_FAM177A1-PSMA6_FAM177A1_chr14_35515834_ENST00000280987_PSMA6_chr14_35786455_ENST00000556506_length(amino acids)=85AA_BP=1

--------------------------------------------------------------
>28739_28739_3_FAM177A1-PSMA6_FAM177A1_chr14_35515834_ENST00000382406_PSMA6_chr14_35786455_ENST00000261479_length(transcript)=379nt_BP=153nt
AGGCGCGGCGCGAGGCGGGCGCTGGGCGGCGCCAGCAGCCCTGTGGTGGCGACGACGATGGACCAGGAGCCAGTGGGCGGTGTGGAACGA
GGAGAAGCCGTCGCAGCCTCGGGAGCTGCGGCCGCCGCGGCATTCGGGGAATCTGCAGGGCAGGATTCTTACAGAAGCAGAGATTGATGC
TCACCTTGTTGCTCTAGCAGAGAGAGACTAAACATTGTCGTTAGTTTACCAGATCCGTGATGCCACTTACCTGTGTGTTTGGTAACAACA
AACCAACATCATGGAGGTCCCTGGATTGAAAAAGGAGCCTCTCCCACTCCTCCTACCACCGAAGTGGTTAGGACTCTATATAAATAAAAA

>28739_28739_3_FAM177A1-PSMA6_FAM177A1_chr14_35515834_ENST00000382406_PSMA6_chr14_35786455_ENST00000261479_length(amino acids)=56AA_BP=1

--------------------------------------------------------------
>28739_28739_4_FAM177A1-PSMA6_FAM177A1_chr14_35515834_ENST00000382406_PSMA6_chr14_35786455_ENST00000556506_length(transcript)=324nt_BP=153nt
AGGCGCGGCGCGAGGCGGGCGCTGGGCGGCGCCAGCAGCCCTGTGGTGGCGACGACGATGGACCAGGAGCCAGTGGGCGGTGTGGAACGA
GGAGAAGCCGTCGCAGCCTCGGGAGCTGCGGCCGCCGCGGCATTCGGGGAATCTGCAGGGCAGGATTCTTACAGAAGCAGAGATTGATGC
TCACCTTGTTGCTCTAGCAGAGAGAGACTAAACATTGTCGTTAGTTTACCAGATCCGTGATGCCACTTACCTGTGTGTTTGGTAACAACA

>28739_28739_4_FAM177A1-PSMA6_FAM177A1_chr14_35515834_ENST00000382406_PSMA6_chr14_35786455_ENST00000556506_length(amino acids)=56AA_BP=1

--------------------------------------------------------------
>28739_28739_5_FAM177A1-PSMA6_FAM177A1_chr14_35515834_ENST00000396472_PSMA6_chr14_35786455_ENST00000261479_length(transcript)=781nt_BP=555nt
AAGAAAATTGTAATTTGATATTTAATTGCCACTTTGGAAAATAAAATCATGCATTTATAAATATCCCACAAAGTTTTAGTAATAAAGATT
GTTGATTGCCCTGCTTGCCAGTAAGAAGGAAGAGATTTTGAATACATATAATGCAGAACTGTGTTGTTTATGAATGCCAATTCATGAAGT
CTTAACAATTGGTTCTTTATTTTTGTTTTCAATTTATGGCCGAGTTTGGTTTTGCTGTTTTGGACTGTCTCAACTCCCTGCTGATGCCAC
CATACAGAGTCAGATCAGCAACCACATCCCATCACTAGCCTTTGAAGTACAACGACACAGCTGTCTTCATTTTACAAGTGCAAAAACCGA
GGTCCTGCGGGGTGACTGCCCCAGACGCCGCTGGTGACGGGCTGCGCCGAGGTCGAGACGCCAGGCTTCAGCGCCAGCAGCCCTGTGGTG
GCGACGACGATGGACCAGGAGCCAGTGGGCGGTGTGGAACGAGGAGAAGCCGTCGCAGCCTCGGGAGCTGCGGCCGCCGCGGCATTCGGG
GAATCTGCAGGGCAGGATTCTTACAGAAGCAGAGATTGATGCTCACCTTGTTGCTCTAGCAGAGAGAGACTAAACATTGTCGTTAGTTTA
CCAGATCCGTGATGCCACTTACCTGTGTGTTTGGTAACAACAAACCAACATCATGGAGGTCCCTGGATTGAAAAAGGAGCCTCTCCCACT

>28739_28739_5_FAM177A1-PSMA6_FAM177A1_chr14_35515834_ENST00000396472_PSMA6_chr14_35786455_ENST00000261479_length(amino acids)=95AA_BP=1
MKYNDTAVFILQVQKPRSCGVTAPDAAGDGLRRGRDARLQRQQPCGGDDDGPGASGRCGTRRSRRSLGSCGRRGIRGICRAGFLQKQRLM

--------------------------------------------------------------
>28739_28739_6_FAM177A1-PSMA6_FAM177A1_chr14_35515834_ENST00000396472_PSMA6_chr14_35786455_ENST00000556506_length(transcript)=726nt_BP=555nt
AAGAAAATTGTAATTTGATATTTAATTGCCACTTTGGAAAATAAAATCATGCATTTATAAATATCCCACAAAGTTTTAGTAATAAAGATT
GTTGATTGCCCTGCTTGCCAGTAAGAAGGAAGAGATTTTGAATACATATAATGCAGAACTGTGTTGTTTATGAATGCCAATTCATGAAGT
CTTAACAATTGGTTCTTTATTTTTGTTTTCAATTTATGGCCGAGTTTGGTTTTGCTGTTTTGGACTGTCTCAACTCCCTGCTGATGCCAC
CATACAGAGTCAGATCAGCAACCACATCCCATCACTAGCCTTTGAAGTACAACGACACAGCTGTCTTCATTTTACAAGTGCAAAAACCGA
GGTCCTGCGGGGTGACTGCCCCAGACGCCGCTGGTGACGGGCTGCGCCGAGGTCGAGACGCCAGGCTTCAGCGCCAGCAGCCCTGTGGTG
GCGACGACGATGGACCAGGAGCCAGTGGGCGGTGTGGAACGAGGAGAAGCCGTCGCAGCCTCGGGAGCTGCGGCCGCCGCGGCATTCGGG
GAATCTGCAGGGCAGGATTCTTACAGAAGCAGAGATTGATGCTCACCTTGTTGCTCTAGCAGAGAGAGACTAAACATTGTCGTTAGTTTA
CCAGATCCGTGATGCCACTTACCTGTGTGTTTGGTAACAACAAACCAACATCATGGAGGTCCCTGGATTGAAAAAGGAGCCTCTCCCACT

>28739_28739_6_FAM177A1-PSMA6_FAM177A1_chr14_35515834_ENST00000396472_PSMA6_chr14_35786455_ENST00000556506_length(amino acids)=95AA_BP=1
MKYNDTAVFILQVQKPRSCGVTAPDAAGDGLRRGRDARLQRQQPCGGDDDGPGASGRCGTRRSRRSLGSCGRRGIRGICRAGFLQKQRLM

--------------------------------------------------------------

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Fusion Gene PPI Analysis for FAM177A1-PSMA6


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 FAM177A1-PSMA6


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 FAM177A1-PSMA6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0019693HIV Infections1CTD_human
TgeneC0027051Myocardial Infarction1CTD_human
TgeneC4505456HIV Coinfection1CTD_human