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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:ABHD8-ILKAP (FusionGDB2 ID:HG79575TG80895)

Fusion Gene Summary for ABHD8-ILKAP

check button Fusion gene summary
Fusion gene informationFusion gene name: ABHD8-ILKAP
Fusion gene ID: hg79575tg80895
HgeneTgene
Gene symbol

ABHD8

ILKAP

Gene ID

79575

80895

Gene nameabhydrolase domain containing 8ILK associated serine/threonine phosphatase
Synonyms-ILKAP2|ILKAP3|PP2C-DELTA|PPM1O
Cytomap('ABHD8')('ILKAP')

19p13.11

2q37.3

Type of geneprotein-codingprotein-coding
Descriptionprotein ABHD8abhydrolase domain-containing protein 8alpha/beta hydrolase domain-containing protein 8integrin-linked kinase-associated serine/threonine phosphatase 2Cintegrin-linked kinase associated phosphataseprotein phosphatase 2c, delta isozymeprotein phosphatase, Mg2+/Mn2+ dependent 1O
Modification date2020031320200320
UniProtAcc

Q96I13

Q9H0C8

Ensembl transtripts involved in fusion geneENST00000247706, 
Fusion gene scores* DoF score3 X 3 X 3=272 X 2 X 2=8
# samples 32
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: ABHD8 [Title/Abstract] AND ILKAP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABHD8(17411665)-ILKAP(239079665), # samples:2
Anticipated loss of major functional domain due to fusion event.ABHD8-ILKAP seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ABHD8-ILKAP seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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 ABHD8 (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 ILKAP (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
ChimerDB4BLCATCGA-DK-AA6U-01AABHD8chr19

17411665

-ILKAPchr2

239079665

-


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Fusion Gene ORF analysis for ABHD8-ILKAP

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-intronENST00000247706ENST00000490837ABHD8chr19

17411665

-ILKAPchr2

239079665

-
In-frameENST00000247706ENST00000254654ABHD8chr19

17411665

-ILKAPchr2

239079665

-

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)
ENST00000247706ABHD8chr1917411665-ENST00000254654ILKAPchr2239079665-135910012401223327

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
ENST00000247706ENST00000254654ABHD8chr1917411665-ILKAPchr2239079665-0.0035406420.9964593

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Fusion Genomic Features for ABHD8-ILKAP


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.
genomic feature

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Fusion Protein Features for ABHD8-ILKAP


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/chr19:17411665/chr2:239079665)
- 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
ABHD8

Q96I13

ILKAP

Q9H0C8

FUNCTION: Protein phosphatase that may play a role in regulation of cell cycle progression via dephosphorylation of its substrates whose appropriate phosphorylation states might be crucial for cell proliferation. Selectively associates with integrin linked kinase (ILK), to modulate cell adhesion and growth factor signaling. Inhibits the ILK-GSK3B signaling axis and may play an important role in inhibiting oncogenic transformation. {ECO:0000269|PubMed:14990992}.

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
HgeneABHD8chr19:17411665chr2:239079665ENST00000247706-25177_279253440.0DomainAB hydrolase-1
TgeneILKAPchr19:17411665chr2:239079665ENST00000254654912108_390318393.0DomainPPM-type phosphatase


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Fusion Gene Sequence for ABHD8-ILKAP


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.
>438_438_1_ABHD8-ILKAP_ABHD8_chr19_17411665_ENST00000247706_ILKAP_chr2_239079665_ENST00000254654_length(transcript)=1359nt_BP=1001nt
AGTGCCCGCCCGTCGGCACGTGGCTCCGCCTACTCGGGGGAGGAACTTAAAGGGCCGGCTGTTTCGGCGGCCGCGGGATGCCCCTGCGCT
GACCGCCAGGGGCAGGTGCCCGCCCGCGTAGACGCACCCGGCCTGACCCCGCGCCACCATGTAAACGGCGCCAGCAGGCGGACGCTGGCT
TCTCCGCCTGGGACCCCTCCGCCCCGACCCGGGCCCCGCGGCCCTCGATGAGGACACACCATGCTGACCGGGGTGACCGACGGTATCTTC
TGTTGCCTGCTGGGCACGCCCCCCAACGCCGTGGGGCCACTGGAGAGCGTCGAGTCCAGCGATGGCTACACCTTTGTAGAGGTCAAGCCC
GGCCGCGTGCTGCGGGTGAAGCATGCAGGACCCGCCCCAGCCGCTGCCCCACCTCCACCATCATCCGCATCCTCGGATGCAGCCCAGGGG
GACCTCTCCGGCTTGGTCCGCTGTCAGCGCCGGATCACCGTGTACCGCAATGGGCGGTTGCTGGTGGAAAACCTGGGCCGAGCCCCTCGA
GCCGACCTCCTACACGGGCAGAATGGCTCTGGGGAGCCGCCGGCCGCCCTGGAGGTGGAGCTGGCAGATCCGGCGGGCAGCGATGGCCGC
TTGGCCCCCGGCAGCGCAGGCAGCGGCAGCGGCAGTGGCAGTGGTGGGCGGCGGCGGCGAGCCAGGCGCCCCAAGAGGACCATCCATATT
GACTGTGAGAAGCGCATCACTAGCTGCAAAGGCGCCCAGGCCGACGTGGTGCTCTTTTTCATCCATGGTGTCGGCGGTTCCCTGGCCATC
TGGAAGGAGCAGCTGGACTTCTTTGTGCGCCTAGGCTATGAGGTGGTGGCTCCTGACCTGGCCGGCCACGGGGCCAGCTCTGCGCCCCAG
GTGGCCGCAGCCTACACCTTCTATGCGCTGGCTGAGGACATGCGAGCAATCTTCAAGCGCTATGCCAAGAAGCGAAATGTGCTCATTGGC
CATTCCTACGGGTTCATTTTGTTGGCCTGTGATGGGCTCTTCAAGGTCTTTACCCCAGAAGAAGCCGTGAACTTCATCTTGTCCTGTCTC
GAGGATGAAAAGATCCAGACCCGGGAAGGGAAGTCCGCAGCCGACGCCCGCTACGAAGCAGCCTGCAACAGGCTGGCCAACAAGGCGGTG
CAGCGGGGCTCGGCCGACAACGTCACTGTGATGGTGGTGCGGATAGGGCACTGAGGGGTGGCGCGCGGCCAGGAGCACGCATGGTATTGA
CTTAAAAGGTTCATTTTGTGTGTGTGCACATTGTGTGTTTTGTGTACTCCTGTGGGACTCCCATGGTTGTAAATAAAGGTTTCTCTTTTT

>438_438_1_ABHD8-ILKAP_ABHD8_chr19_17411665_ENST00000247706_ILKAP_chr2_239079665_ENST00000254654_length(amino acids)=327AA_BP=254
MLTGVTDGIFCCLLGTPPNAVGPLESVESSDGYTFVEVKPGRVLRVKHAGPAPAAAPPPPSSASSDAAQGDLSGLVRCQRRITVYRNGRL
LVENLGRAPRADLLHGQNGSGEPPAALEVELADPAGSDGRLAPGSAGSGSGSGSGGRRRRARRPKRTIHIDCEKRITSCKGAQADVVLFF
IHGVGGSLAIWKEQLDFFVRLGYEVVAPDLAGHGASSAPQVAAAYTFYALAEDMRAIFKRYAKKRNVLIGHSYGFILLACDGLFKVFTPE

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Fusion Gene PPI Analysis for ABHD8-ILKAP


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 ABHD8-ILKAP


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 ABHD8-ILKAP


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