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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:ABHD12-ENTPD6 (FusionGDB2 ID:372)

Fusion Gene Summary for ABHD12-ENTPD6

check button Fusion gene summary
Fusion gene informationFusion gene name: ABHD12-ENTPD6
Fusion gene ID: 372
HgeneTgene
Gene symbol

ABHD12

ENTPD6

Gene ID

26090

955

Gene nameabhydrolase domain containing 12, lysophospholipaseectonucleoside triphosphate diphosphohydrolase 6
SynonymsABHD12A|BEM46L2|C20orf22|PHARC|dJ965G21.2|hABHD12CD39L2|IL-6SAG|IL6ST2|NTPDase-6|dJ738P15.3
Cytomap

20p11.21

20p11.21

Type of geneprotein-codingprotein-coding
Descriptionlysophosphatidylserine lipase ABHD122-arachidonoylglycerol hydrolase2-arachidonoylglycerol hydrolase ABHD12abhydrolase domain containing 12abhydrolase domain-containing protein 12monoacylglycerol lipase ABHD12oxidized phosphatidylserine lipase ABHD1ectonucleoside triphosphate diphosphohydrolase 6CD39 antigen-like 2NTPDase 6ectonucleoside triphosphate diphosphohydrolase 6 (putative)interleukin 6 signal transducer-2
Modification date2020031320200313
UniProtAcc

Q8N2K0

O75354

Ensembl transtripts involved in fusion geneENST00000339157, ENST00000376542, 
ENST00000481556, 		ENST00000485936, 
ENST00000354989, ENST00000360031, 
ENST00000376652, ENST00000433259, 
Fusion gene scores* DoF score11 X 8 X 6=5287 X 8 X 4=224
# samples 138
** MAII scorelog2(13/528*10)=-2.02202630633
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABHD12 [Title/Abstract] AND ENTPD6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABHD12(25371148)-ENTPD6(25203473), # samples:1
ABHD12(25371149)-ENTPD6(25203474), # samples:1
Anticipated loss of major functional domain due to fusion event.ABHD12-ENTPD6 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ABHD12-ENTPD6 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism 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
HgeneABHD12

GO:0006660

phosphatidylserine catabolic process

30643283

HgeneABHD12

GO:0009395

phospholipid catabolic process

30237167

HgeneABHD12

GO:0046464

acylglycerol catabolic process

22969151

HgeneABHD12

GO:0046475

glycerophospholipid catabolic process

25290914

HgeneABHD12

GO:0052651

monoacylglycerol catabolic process

25290914|30237167


check buttonFusion gene breakpoints across ABHD12 (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 ENTPD6 (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
ChimerDB4LUSCTCGA-85-7696-01AABHD12chr20

25371149

-ENTPD6chr20

25203474

+
ChimerDB4LUSCTCGA-85-7696ABHD12chr20

25371148

-ENTPD6chr20

25203473

+


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Fusion Gene ORF analysis for ABHD12-ENTPD6

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-3UTRENST00000339157ENST00000485936ABHD12chr20

25371149

-ENTPD6chr20

25203474

+
5CDS-3UTRENST00000339157ENST00000485936ABHD12chr20

25371148

-ENTPD6chr20

25203473

+
5CDS-3UTRENST00000376542ENST00000485936ABHD12chr20

25371149

-ENTPD6chr20

25203474

+
5CDS-3UTRENST00000376542ENST00000485936ABHD12chr20

25371148

-ENTPD6chr20

25203473

+
Frame-shiftENST00000339157ENST00000354989ABHD12chr20

25371149

-ENTPD6chr20

25203474

+
Frame-shiftENST00000339157ENST00000354989ABHD12chr20

25371148

-ENTPD6chr20

25203473

+
Frame-shiftENST00000339157ENST00000360031ABHD12chr20

25371149

-ENTPD6chr20

25203474

+
Frame-shiftENST00000339157ENST00000360031ABHD12chr20

25371148

-ENTPD6chr20

25203473

+
Frame-shiftENST00000339157ENST00000376652ABHD12chr20

25371149

-ENTPD6chr20

25203474

+
Frame-shiftENST00000339157ENST00000376652ABHD12chr20

25371148

-ENTPD6chr20

25203473

+
Frame-shiftENST00000339157ENST00000433259ABHD12chr20

25371149

-ENTPD6chr20

25203474

+
Frame-shiftENST00000339157ENST00000433259ABHD12chr20

25371148

-ENTPD6chr20

25203473

+
Frame-shiftENST00000376542ENST00000354989ABHD12chr20

25371149

-ENTPD6chr20

25203474

+
Frame-shiftENST00000376542ENST00000354989ABHD12chr20

25371148

-ENTPD6chr20

25203473

+
Frame-shiftENST00000376542ENST00000360031ABHD12chr20

25371149

-ENTPD6chr20

25203474

+
Frame-shiftENST00000376542ENST00000360031ABHD12chr20

25371148

-ENTPD6chr20

25203473

+
Frame-shiftENST00000376542ENST00000376652ABHD12chr20

25371149

-ENTPD6chr20

25203474

+
Frame-shiftENST00000376542ENST00000376652ABHD12chr20

25371148

-ENTPD6chr20

25203473

+
Frame-shiftENST00000376542ENST00000433259ABHD12chr20

25371149

-ENTPD6chr20

25203474

+
Frame-shiftENST00000376542ENST00000433259ABHD12chr20

25371148

-ENTPD6chr20

25203473

+
intron-3CDSENST00000481556ENST00000354989ABHD12chr20

25371149

-ENTPD6chr20

25203474

+
intron-3CDSENST00000481556ENST00000354989ABHD12chr20

25371148

-ENTPD6chr20

25203473

+
intron-3CDSENST00000481556ENST00000360031ABHD12chr20

25371149

-ENTPD6chr20

25203474

+
intron-3CDSENST00000481556ENST00000360031ABHD12chr20

25371148

-ENTPD6chr20

25203473

+
intron-3CDSENST00000481556ENST00000376652ABHD12chr20

25371149

-ENTPD6chr20

25203474

+
intron-3CDSENST00000481556ENST00000376652ABHD12chr20

25371148

-ENTPD6chr20

25203473

+
intron-3CDSENST00000481556ENST00000433259ABHD12chr20

25371149

-ENTPD6chr20

25203474

+
intron-3CDSENST00000481556ENST00000433259ABHD12chr20

25371148

-ENTPD6chr20

25203473

+
intron-3UTRENST00000481556ENST00000485936ABHD12chr20

25371149

-ENTPD6chr20

25203474

+
intron-3UTRENST00000481556ENST00000485936ABHD12chr20

25371148

-ENTPD6chr20

25203473

+

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 ABHD12-ENTPD6


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)
ABHD12chr2025371148-ENTPD6chr2025203473+1.52E-081
ABHD12chr2025371148-ENTPD6chr2025203473+1.52E-081
ABHD12chr2025371148-ENTPD6chr2025203473+1.52E-081
ABHD12chr2025371148-ENTPD6chr2025203473+1.52E-081

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.
genomic feature of top 1%

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Fusion Protein Features for ABHD12-ENTPD6


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/:25371148/:25203473)
- 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
ABHD12

Q8N2K0

ENTPD6

O75354

FUNCTION: Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes (PubMed:25290914, PubMed:30237167, PubMed:30420694, PubMed:30720278, PubMed:30643283). Represents a major lysophosphatidylserine lipase in the brain, thereby playing a key role in the central nervous system (By similarity). Also able to hydrolyze oxidized phosphatidylserine; oxidized phosphatidylserine is produced in response to severe inflammatory stress and constitutes a proapoptotic 'eat me' signal (PubMed:30643283). Also has monoacylglycerol (MAG) lipase activity: hydrolyzes 2-arachidonoylglycerol (2-AG), thereby acting as a regulator of endocannabinoid signaling pathways (PubMed:22969151, PubMed:24027063). Has a strong preference for very-long-chain lipid substrates; substrate specificity is likely due to improved catalysis and not improved substrate binding (PubMed:30237167). {ECO:0000250|UniProtKB:Q99LR1, ECO:0000269|PubMed:22969151, ECO:0000269|PubMed:24027063, ECO:0000269|PubMed:25290914, ECO:0000269|PubMed:30237167, ECO:0000269|PubMed:30420694, ECO:0000269|PubMed:30643283, ECO:0000269|PubMed:30720278}.FUNCTION: Catalyzes the hydrolysis of nucleoside triphosphates and diphosphates in a calcium- or magnesium-dependent manner. Has a strong preference for nucleoside diphosphates, preferentially hydrolyzes GDP, IDP, and UDP, with slower hydrolysis of CDP, ITP, GTP, CTP, ADP, and UTP and virtually no hydrolysis of ATP (PubMed:10948193, PubMed:14529283, PubMed:11041856). The membrane bound form might support glycosylation reactions in the Golgi apparatus and, when released from cells, might catalyze the hydrolysis of extracellular nucleotides (PubMed:10948193, PubMed:14529283, PubMed:11041856). {ECO:0000269|PubMed:10948193, ECO:0000269|PubMed:11041856, ECO:0000269|PubMed:14529283}.

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 ABHD12-ENTPD6


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 ABHD12-ENTPD6


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 ABHD12-ENTPD6


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 ABHD12-ENTPD6


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