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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:GAPDH-ADAMTSL1 (FusionGDB2 ID:32362)

Fusion Gene Summary for GAPDH-ADAMTSL1

check button Fusion gene summary
Fusion gene informationFusion gene name: GAPDH-ADAMTSL1
Fusion gene ID: 32362
HgeneTgene
Gene symbol

GAPDH

ADAMTSL1

Gene ID

2597

92949

Gene nameglyceraldehyde-3-phosphate dehydrogenaseADAMTS like 1
SynonymsG3PD|GAPD|HEL-S-162ePADAMTSL-1|ADAMTSR1|C9orf94|PUNCTIN
Cytomap

12p13.31

9p22.2-p22.1

Type of geneprotein-codingprotein-coding
Descriptionglyceraldehyde-3-phosphate dehydrogenaseOCAS, p38 componentOct1 coactivator in S phase, 38 Kd componentaging-associated gene 9 proteinepididymis secretory sperm binding protein Li 162ePpeptidyl-cysteine S-nitrosylase GAPDHADAMTS-like protein 1ADAM-TS related protein 1punctin-1
Modification date2020032720200320
UniProtAcc

P04406

Q8N6G6

Ensembl transtripts involved in fusion geneENST00000229239, ENST00000396861, 
ENST00000396856, ENST00000396858, 
ENST00000396859, 		ENST00000276935, 
ENST00000327883, ENST00000380545, 
ENST00000380548, ENST00000380566, 
ENST00000380570, ENST00000431052, 
ENST00000496521, 
Fusion gene scores* DoF score45 X 34 X 13=1989010 X 10 X 2=200
# samples 5110
** MAII scorelog2(51/19890*10)=-5.28540221886225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/200*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GAPDH [Title/Abstract] AND ADAMTSL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGAPDH(6647529)-ADAMTSL1(18428426), # 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
HgeneGAPDH

GO:0010951

negative regulation of endopeptidase activity

22832495

HgeneGAPDH

GO:0017148

negative regulation of translation

23071094

HgeneGAPDH

GO:0031640

killing of cells of other organism

22832495

HgeneGAPDH

GO:0050715

positive regulation of cytokine secretion

22832495

HgeneGAPDH

GO:0050832

defense response to fungus

22832495

HgeneGAPDH

GO:0051873

killing by host of symbiont cells

22832495

HgeneGAPDH

GO:0052501

positive regulation by organism of apoptotic process in other organism involved in symbiotic interaction

22832495

HgeneGAPDH

GO:0061844

antimicrobial humoral immune response mediated by antimicrobial peptide

22832495

HgeneGAPDH

GO:0071346

cellular response to interferon-gamma

15479637


check buttonFusion gene breakpoints across GAPDH (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 ADAMTSL1 (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
ChiTaRS5.0N/ABF344908GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+


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Fusion Gene ORF analysis for GAPDH-ADAMTSL1

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-intronENST00000229239ENST00000276935GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
3UTR-intronENST00000229239ENST00000327883GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
3UTR-intronENST00000229239ENST00000380545GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
3UTR-intronENST00000229239ENST00000380548GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
3UTR-intronENST00000229239ENST00000380566GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
3UTR-intronENST00000229239ENST00000380570GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
3UTR-intronENST00000229239ENST00000431052GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
3UTR-intronENST00000229239ENST00000496521GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
5CDS-intronENST00000396861ENST00000276935GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
5CDS-intronENST00000396861ENST00000327883GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
5CDS-intronENST00000396861ENST00000380545GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
5CDS-intronENST00000396861ENST00000380548GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
5CDS-intronENST00000396861ENST00000380566GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
5CDS-intronENST00000396861ENST00000380570GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
5CDS-intronENST00000396861ENST00000431052GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
5CDS-intronENST00000396861ENST00000496521GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396856ENST00000276935GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396856ENST00000327883GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396856ENST00000380545GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396856ENST00000380548GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396856ENST00000380566GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396856ENST00000380570GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396856ENST00000431052GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396856ENST00000496521GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396858ENST00000276935GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396858ENST00000327883GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396858ENST00000380545GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396858ENST00000380548GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396858ENST00000380566GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396858ENST00000380570GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396858ENST00000431052GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396858ENST00000496521GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396859ENST00000276935GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396859ENST00000327883GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396859ENST00000380545GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396859ENST00000380548GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396859ENST00000380566GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396859ENST00000380570GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396859ENST00000431052GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+
intron-intronENST00000396859ENST00000496521GAPDHchr12

6647529

+ADAMTSL1chr9

18428426

+

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 GAPDH-ADAMTSL1


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 GAPDH-ADAMTSL1


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/:6647529/:18428426)
- 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
GAPDH

P04406

ADAMTSL1

Q8N6G6

FUNCTION: Has both glyceraldehyde-3-phosphate dehydrogenase and nitrosylase activities, thereby playing a role in glycolysis and nuclear functions, respectively. Participates in nuclear events including transcription, RNA transport, DNA replication and apoptosis. Nuclear functions are probably due to the nitrosylase activity that mediates cysteine S-nitrosylation of nuclear target proteins such as SIRT1, HDAC2 and PRKDC. Modulates the organization and assembly of the cytoskeleton. Facilitates the CHP1-dependent microtubule and membrane associations through its ability to stimulate the binding of CHP1 to microtubules (By similarity). Glyceraldehyde-3-phosphate dehydrogenase is a key enzyme in glycolysis that catalyzes the first step of the pathway by converting D-glyceraldehyde 3-phosphate (G3P) into 3-phospho-D-glyceroyl phosphate. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes. Upon interferon-gamma treatment assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation. {ECO:0000250, ECO:0000269|PubMed:11724794, ECO:0000269|PubMed:23071094, ECO:0000269|PubMed:3170585}.

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 GAPDH-ADAMTSL1


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 GAPDH-ADAMTSL1


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 GAPDH-ADAMTSL1


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 GAPDH-ADAMTSL1


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