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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:GSS-FAM192A (FusionGDB2 ID:HG2937TG80011)

Fusion Gene Summary for GSS-FAM192A

check button Fusion gene summary
Fusion gene informationFusion gene name: GSS-FAM192A
Fusion gene ID: hg2937tg80011
HgeneTgene
Gene symbol

GSS

FAM192A

Gene ID

2937

80011

Gene nameglutathione synthetaseproteasome activator subunit 3 interacting protein 1
SynonymsGSHS|HEL-S-64p|HEL-S-88nC16orf94|CDA018|CDA10|FAM192A|NIP30|PIP30
Cytomap('GSS')('FAM192A')

20q11.22

16q13

Type of geneprotein-codingprotein-coding
Descriptionglutathione synthetaseGSH synthetaseGSH-Sglutathione synthasePSME3-interacting proteinNEFA-interacting nuclear protein NIP30PA28G interacting protein 30kDaPA28G-interacting proteinPSME3 interacting protein 30kDafamily with sequence similarity 192 member Aprotein FAM192A
Modification date2020032020200313
UniProtAcc

P48637

.
Ensembl transtripts involved in fusion geneENST00000216951, ENST00000451957, 
ENST00000541098, 
Fusion gene scores* DoF score8 X 8 X 4=25621 X 5 X 9=945
# samples 1021
** MAII scorelog2(10/256*10)=-1.35614381022528
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(21/945*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GSS [Title/Abstract] AND FAM192A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGSS(33543530)-FAM192A(57207781), # 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


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-CD-8525-01AGSSchr20

33543530

-FAM192Achr16

57207781

-


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Fusion Gene ORF analysis for GSS-FAM192A

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-5UTRENST00000216951ENST00000309137GSSchr20

33543530

-FAM192Achr16

57207781

-
5UTR-5UTRENST00000216951ENST00000389447GSSchr20

33543530

-FAM192Achr16

57207781

-
5UTR-5UTRENST00000216951ENST00000564108GSSchr20

33543530

-FAM192Achr16

57207781

-
5UTR-5UTRENST00000216951ENST00000567439GSSchr20

33543530

-FAM192Achr16

57207781

-
5UTR-5UTRENST00000216951ENST00000569266GSSchr20

33543530

-FAM192Achr16

57207781

-
5UTR-intronENST00000216951ENST00000562400GSSchr20

33543530

-FAM192Achr16

57207781

-
5UTR-intronENST00000216951ENST00000566077GSSchr20

33543530

-FAM192Achr16

57207781

-
intron-5UTRENST00000451957ENST00000309137GSSchr20

33543530

-FAM192Achr16

57207781

-
intron-5UTRENST00000451957ENST00000389447GSSchr20

33543530

-FAM192Achr16

57207781

-
intron-5UTRENST00000451957ENST00000564108GSSchr20

33543530

-FAM192Achr16

57207781

-
intron-5UTRENST00000451957ENST00000567439GSSchr20

33543530

-FAM192Achr16

57207781

-
intron-5UTRENST00000451957ENST00000569266GSSchr20

33543530

-FAM192Achr16

57207781

-
intron-5UTRENST00000541098ENST00000309137GSSchr20

33543530

-FAM192Achr16

57207781

-
intron-5UTRENST00000541098ENST00000389447GSSchr20

33543530

-FAM192Achr16

57207781

-
intron-5UTRENST00000541098ENST00000564108GSSchr20

33543530

-FAM192Achr16

57207781

-
intron-5UTRENST00000541098ENST00000567439GSSchr20

33543530

-FAM192Achr16

57207781

-
intron-5UTRENST00000541098ENST00000569266GSSchr20

33543530

-FAM192Achr16

57207781

-
intron-intronENST00000451957ENST00000562400GSSchr20

33543530

-FAM192Achr16

57207781

-
intron-intronENST00000451957ENST00000566077GSSchr20

33543530

-FAM192Achr16

57207781

-
intron-intronENST00000541098ENST00000562400GSSchr20

33543530

-FAM192Achr16

57207781

-
intron-intronENST00000541098ENST00000566077GSSchr20

33543530

-FAM192Achr16

57207781

-

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 GSS-FAM192A


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 GSS-FAM192A


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/:33543530/:57207781)
- 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
GSS

P48637

.
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 GSS-FAM192A


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 GSS-FAM192A


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 GSS-FAM192A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneGSSP48637DB06151AcetylcysteineStimulatorSmall moleculeApproved|Investigational
HgeneGSSP48637DB09130CopperSmall moleculeApproved|Investigational
HgeneGSSP48637DB00143GlutathioneSmall moleculeApproved|Investigational|Nutraceutical
HgeneGSSP48637DB00151CysteineSmall moleculeApproved|Nutraceutical
HgeneGSSP48637DB00145GlycineSubstrateSmall moleculeApproved|Nutraceutical|Vet_approved

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Related Diseases for GSS-FAM192A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGSSC0398746Gluthathione synthetase deficiency15CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneGSSC1856399Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to5CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneGSSC0520572Enzymopathy2GENOMICS_ENGLAND
HgeneGSSC0007097Carcinoma1CTD_human
HgeneGSSC0011616Contact Dermatitis1CTD_human
HgeneGSSC0024667Animal Mammary Neoplasms1CTD_human
HgeneGSSC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneGSSC0026636Mouth Diseases1CTD_human
HgeneGSSC0162351Contact hypersensitivity1CTD_human
HgeneGSSC0205696Anaplastic carcinoma1CTD_human
HgeneGSSC0205697Carcinoma, Spindle-Cell1CTD_human
HgeneGSSC0205698Undifferentiated carcinoma1CTD_human
HgeneGSSC0205699Carcinomatosis1CTD_human
HgeneGSSC1257925Mammary Carcinoma, Animal1CTD_human