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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:C19orf12-GLYATL2 (FusionGDB2 ID:11156)

Fusion Gene Summary for C19orf12-GLYATL2

check button Fusion gene summary
Fusion gene informationFusion gene name: C19orf12-GLYATL2
Fusion gene ID: 11156
HgeneTgene
Gene symbol

C19orf12

GLYATL2

Gene ID

83636

219970

Gene namechromosome 19 open reading frame 12glycine-N-acyltransferase like 2
SynonymsMPAN|NBIA3|NBIA4|SPG43BXMAS2-10|GATF-B
Cytomap

19q12

11q12.1

Type of geneprotein-codingprotein-coding
Descriptionprotein C19orf12membrane protein-associated neurodegenerationneurodegeneration with brain iron accumulation 3glycine N-acyltransferase-like protein 2acyl-CoA:glycine N-acyltransferase-like protein 2glycine acyltransferase family-B
Modification date2020031320200313
UniProtAcc.

Q8WU03

Ensembl transtripts involved in fusion geneENST00000323670, ENST00000392278, 
ENST00000592153, ENST00000392276, 
ENST00000392275, 
ENST00000287275, 
ENST00000532258, ENST00000533636, 
Fusion gene scores* DoF score3 X 4 X 3=366 X 5 X 5=150
# samples 48
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/150*10)=-0.906890595608519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C19orf12 [Title/Abstract] AND GLYATL2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC19orf12(30199161)-GLYATL2(58611997), # samples:2
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
TgeneGLYATL2

GO:0042758

long-chain fatty acid catabolic process

20305126

TgeneGLYATL2

GO:0051793

medium-chain fatty acid catabolic process

20305126

TgeneGLYATL2

GO:1903965

monounsaturated fatty acid catabolic process

20305126


check buttonFusion gene breakpoints across C19orf12 (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 GLYATL2 (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
ChimerDB4OVTCGA-09-0366-01AC19orf12chr19

30199161

-GLYATL2chr11

58611997

-
ChimerDB4OVTCGA-09-0366-01AC19orf12chr19

30206032

-GLYATL2chr11

58607125

-
ChimerDB4OVTCGA-09-0366-01AC19orf12chr19

30206032

-GLYATL2chr11

58611997

-
ChimerDB4OVTCGA-09-0366C19orf12chr19

30199160

-GLYATL2chr11

58611997

-


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Fusion Gene ORF analysis for C19orf12-GLYATL2

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
5CDS-5UTRENST00000323670ENST00000287275C19orf12chr19

30199161

-GLYATL2chr11

58611997

-
5CDS-5UTRENST00000323670ENST00000287275C19orf12chr19

30199160

-GLYATL2chr11

58611997

-
5CDS-5UTRENST00000323670ENST00000532258C19orf12chr19

30199161

-GLYATL2chr11

58611997

-
5CDS-5UTRENST00000323670ENST00000532258C19orf12chr19

30199160

-GLYATL2chr11

58611997

-
5CDS-5UTRENST00000392278ENST00000287275C19orf12chr19

30199161

-GLYATL2chr11

58611997

-
5CDS-5UTRENST00000392278ENST00000287275C19orf12chr19

30199160

-GLYATL2chr11

58611997

-
5CDS-5UTRENST00000392278ENST00000532258C19orf12chr19

30199161

-GLYATL2chr11

58611997

-
5CDS-5UTRENST00000392278ENST00000532258C19orf12chr19

30199160

-GLYATL2chr11

58611997

-
5CDS-5UTRENST00000592153ENST00000287275C19orf12chr19

30199161

-GLYATL2chr11

58611997

-
5CDS-5UTRENST00000592153ENST00000287275C19orf12chr19

30199160

-GLYATL2chr11

58611997

-
5CDS-5UTRENST00000592153ENST00000532258C19orf12chr19

30199161

-GLYATL2chr11

58611997

-
5CDS-5UTRENST00000592153ENST00000532258C19orf12chr19

30199160

-GLYATL2chr11

58611997

-
5CDS-intronENST00000323670ENST00000533636C19orf12chr19

30199161

-GLYATL2chr11

58611997

-
5CDS-intronENST00000323670ENST00000533636C19orf12chr19

30199160

-GLYATL2chr11

58611997

-
5CDS-intronENST00000392278ENST00000533636C19orf12chr19

30199161

-GLYATL2chr11

58611997

-
5CDS-intronENST00000392278ENST00000533636C19orf12chr19

30199160

-GLYATL2chr11

58611997

-
5CDS-intronENST00000592153ENST00000533636C19orf12chr19

30199161

-GLYATL2chr11

58611997

-
5CDS-intronENST00000592153ENST00000533636C19orf12chr19

30199160

-GLYATL2chr11

58611997

-
5UTR-5UTRENST00000323670ENST00000287275C19orf12chr19

30206032

-GLYATL2chr11

58607125

-
5UTR-5UTRENST00000323670ENST00000287275C19orf12chr19

30206032

-GLYATL2chr11

58611997

-
5UTR-5UTRENST00000323670ENST00000532258C19orf12chr19

30206032

-GLYATL2chr11

58607125

-
5UTR-5UTRENST00000323670ENST00000532258C19orf12chr19

30206032

-GLYATL2chr11

58611997

-
5UTR-5UTRENST00000392276ENST00000287275C19orf12chr19

30206032

-GLYATL2chr11

58607125

-
5UTR-5UTRENST00000392276ENST00000287275C19orf12chr19

30206032

-GLYATL2chr11

58611997

-
5UTR-5UTRENST00000392276ENST00000532258C19orf12chr19

30206032

-GLYATL2chr11

58607125

-
5UTR-5UTRENST00000392276ENST00000532258C19orf12chr19

30206032

-GLYATL2chr11

58611997

-
5UTR-5UTRENST00000592153ENST00000287275C19orf12chr19

30206032

-GLYATL2chr11

58607125

-
5UTR-5UTRENST00000592153ENST00000287275C19orf12chr19

30206032

-GLYATL2chr11

58611997

-
5UTR-5UTRENST00000592153ENST00000532258C19orf12chr19

30206032

-GLYATL2chr11

58607125

-
5UTR-5UTRENST00000592153ENST00000532258C19orf12chr19

30206032

-GLYATL2chr11

58611997

-
5UTR-intronENST00000323670ENST00000533636C19orf12chr19

30206032

-GLYATL2chr11

58607125

-
5UTR-intronENST00000323670ENST00000533636C19orf12chr19

30206032

-GLYATL2chr11

58611997

-
5UTR-intronENST00000392276ENST00000533636C19orf12chr19

30206032

-GLYATL2chr11

58607125

-
5UTR-intronENST00000392276ENST00000533636C19orf12chr19

30206032

-GLYATL2chr11

58611997

-
5UTR-intronENST00000592153ENST00000533636C19orf12chr19

30206032

-GLYATL2chr11

58607125

-
5UTR-intronENST00000592153ENST00000533636C19orf12chr19

30206032

-GLYATL2chr11

58611997

-
intron-5UTRENST00000392275ENST00000287275C19orf12chr19

30199161

-GLYATL2chr11

58611997

-
intron-5UTRENST00000392275ENST00000287275C19orf12chr19

30206032

-GLYATL2chr11

58607125

-
intron-5UTRENST00000392275ENST00000287275C19orf12chr19

30206032

-GLYATL2chr11

58611997

-
intron-5UTRENST00000392275ENST00000287275C19orf12chr19

30199160

-GLYATL2chr11

58611997

-
intron-5UTRENST00000392275ENST00000532258C19orf12chr19

30199161

-GLYATL2chr11

58611997

-
intron-5UTRENST00000392275ENST00000532258C19orf12chr19

30206032

-GLYATL2chr11

58607125

-
intron-5UTRENST00000392275ENST00000532258C19orf12chr19

30206032

-GLYATL2chr11

58611997

-
intron-5UTRENST00000392275ENST00000532258C19orf12chr19

30199160

-GLYATL2chr11

58611997

-
intron-5UTRENST00000392276ENST00000287275C19orf12chr19

30199161

-GLYATL2chr11

58611997

-
intron-5UTRENST00000392276ENST00000287275C19orf12chr19

30199160

-GLYATL2chr11

58611997

-
intron-5UTRENST00000392276ENST00000532258C19orf12chr19

30199161

-GLYATL2chr11

58611997

-
intron-5UTRENST00000392276ENST00000532258C19orf12chr19

30199160

-GLYATL2chr11

58611997

-
intron-5UTRENST00000392278ENST00000287275C19orf12chr19

30206032

-GLYATL2chr11

58607125

-
intron-5UTRENST00000392278ENST00000287275C19orf12chr19

30206032

-GLYATL2chr11

58611997

-
intron-5UTRENST00000392278ENST00000532258C19orf12chr19

30206032

-GLYATL2chr11

58607125

-
intron-5UTRENST00000392278ENST00000532258C19orf12chr19

30206032

-GLYATL2chr11

58611997

-
intron-intronENST00000392275ENST00000533636C19orf12chr19

30199161

-GLYATL2chr11

58611997

-
intron-intronENST00000392275ENST00000533636C19orf12chr19

30206032

-GLYATL2chr11

58607125

-
intron-intronENST00000392275ENST00000533636C19orf12chr19

30206032

-GLYATL2chr11

58611997

-
intron-intronENST00000392275ENST00000533636C19orf12chr19

30199160

-GLYATL2chr11

58611997

-
intron-intronENST00000392276ENST00000533636C19orf12chr19

30199161

-GLYATL2chr11

58611997

-
intron-intronENST00000392276ENST00000533636C19orf12chr19

30199160

-GLYATL2chr11

58611997

-
intron-intronENST00000392278ENST00000533636C19orf12chr19

30206032

-GLYATL2chr11

58607125

-
intron-intronENST00000392278ENST00000533636C19orf12chr19

30206032

-GLYATL2chr11

58611997

-

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 C19orf12-GLYATL2


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 C19orf12-GLYATL2


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/:30199161/:58611997)
- 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
.GLYATL2

Q8WU03

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: Mitochondrial acyltransferase which transfers the acyl group to the N-terminus of glycine (PubMed:22475485, PubMed:20305126). Conjugates numerous substrates, such as arachidonoyl-CoA and saturated medium and long-chain acyl-CoAs ranging from chain-length C8:0-CoA to C18:0-CoA, to form a variety of N-acylglycines. Shows a preference for monounsaturated fatty acid oleoyl-CoA (C18:1-CoA) as an acyl donor. Does not exhibit any activity toward C22:6-CoA and chenodeoxycholoyl-CoA, nor toward serine or alanine (PubMed:20305126). {ECO:0000269|PubMed:20305126, ECO:0000269|PubMed:22475485}.

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 C19orf12-GLYATL2


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 C19orf12-GLYATL2


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 C19orf12-GLYATL2


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 C19orf12-GLYATL2


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