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in Kim Lab

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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-NUDCD3 (FusionGDB2 ID:HG26090TG23386)

Fusion Gene Summary for ABHD12-NUDCD3

check button Fusion gene summary
Fusion gene informationFusion gene name: ABHD12-NUDCD3
Fusion gene ID: hg26090tg23386
HgeneTgene
Gene symbol

ABHD12

NUDCD3

Gene ID

26090

23386

Gene nameabhydrolase domain containing 12, lysophospholipaseNudC domain containing 3
SynonymsABHD12A|BEM46L2|C20orf22|PHARC|dJ965G21.2|hABHD12NudCL
Cytomap('ABHD12')('NUDCD3')

20p11.21

7p13

Type of geneprotein-codingprotein-coding
Descriptionlysophosphatidylserine lipase ABHD122-arachidonoylglycerol hydrolase2-arachidonoylglycerol hydrolase ABHD12abhydrolase domain containing 12abhydrolase domain-containing protein 12monoacylglycerol lipase ABHD12oxidized phosphatidylserine lipase ABHD1nudC domain-containing protein 3NudC-like protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000339157, ENST00000376542, 
ENST00000481556, 
Fusion gene scores* DoF score11 X 8 X 6=52812 X 10 X 4=480
# samples 1312
** MAII scorelog2(13/528*10)=-2.02202630633
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/480*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABHD12 [Title/Abstract] AND NUDCD3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABHD12(25371148)-NUDCD3(44432084), # samples:1
Anticipated loss of major functional domain due to fusion event.ABHD12-NUDCD3 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.
ABHD12-NUDCD3 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.
ABHD12-NUDCD3 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.
ABHD12-NUDCD3 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
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.
all structure
check buttonFusion gene breakpoints across NUDCD3 (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
ChimerDB4STADTCGA-RD-A8N6ABHD12chr20

25371148

-NUDCD3chr7

44432084

-


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Fusion Gene ORF analysis for ABHD12-NUDCD3

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-5UTRENST00000339157ENST00000460110ABHD12chr20

25371148

-NUDCD3chr7

44432084

-
5CDS-5UTRENST00000376542ENST00000460110ABHD12chr20

25371148

-NUDCD3chr7

44432084

-
In-frameENST00000339157ENST00000355451ABHD12chr20

25371148

-NUDCD3chr7

44432084

-
In-frameENST00000376542ENST00000355451ABHD12chr20

25371148

-NUDCD3chr7

44432084

-
intron-3CDSENST00000481556ENST00000355451ABHD12chr20

25371148

-NUDCD3chr7

44432084

-
intron-5UTRENST00000481556ENST00000460110ABHD12chr20

25371148

-NUDCD3chr7

44432084

-

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)
ENST00000376542ABHD12chr2025371148-ENST00000355451NUDCD3chr744432084-76614716042201
ENST00000339157ABHD12chr2025371148-ENST00000355451NUDCD3chr744432084-76544645971199

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
ENST00000376542ENST00000355451ABHD12chr2025371148-NUDCD3chr744432084-0.46254650.5374535
ENST00000339157ENST00000355451ABHD12chr2025371148-NUDCD3chr744432084-0.463700950.536299

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Fusion Genomic Features for ABHD12-NUDCD3


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 ABHD12-NUDCD3


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/chr20:25371148/chr7:44432084)
- 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
..
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: 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
HgeneABHD12chr20:25371148chr7:44432084ENST00000339157-11320_2563399.0Compositional biasNote=Poly-Ser
HgeneABHD12chr20:25371148chr7:44432084ENST00000339157-11326_2963399.0Compositional biasNote=Poly-Ala
HgeneABHD12chr20:25371148chr7:44432084ENST00000376542-11320_2563405.0Compositional biasNote=Poly-Ser
HgeneABHD12chr20:25371148chr7:44432084ENST00000376542-11326_2963405.0Compositional biasNote=Poly-Ala

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneABHD12chr20:25371148chr7:44432084ENST00000339157-1131_7463399.0Topological domainCytoplasmic
HgeneABHD12chr20:25371148chr7:44432084ENST00000339157-11396_39863399.0Topological domainExtracellular
HgeneABHD12chr20:25371148chr7:44432084ENST00000376542-1131_7463405.0Topological domainCytoplasmic
HgeneABHD12chr20:25371148chr7:44432084ENST00000376542-11396_39863405.0Topological domainExtracellular
HgeneABHD12chr20:25371148chr7:44432084ENST00000339157-11375_9563399.0TransmembraneHelical
HgeneABHD12chr20:25371148chr7:44432084ENST00000376542-11375_9563405.0TransmembraneHelical
TgeneNUDCD3chr20:25371148chr7:44432084ENST0000035545136185_277262362.0DomainCS


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Fusion Gene Sequence for ABHD12-NUDCD3


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.
>378_378_1_ABHD12-NUDCD3_ABHD12_chr20_25371148_ENST00000339157_NUDCD3_chr7_44432084_ENST00000355451_length(transcript)=7654nt_BP=464nt
ATGCTGGGCGCGCGCTCCTTGGAACTAGAGAGGAGGTGGCCGGGGCGGGGCCGGGGGAGGGGGGTAGGGCAGAGCCGGCGGGAGCCCGGC
GCTGATTGGCCGGCCTGGCTGGCGGGCCCCCGCCGCTGGTTCGTAGCCGGCGCAGCGGCCTGGGCTGGGATGTGAGGAGCGGCGGGTTCC
GGGCTCCGGGCTCTGGGTGGCGGCGGCTGTGAGCGGCGGCACTGCGGCGCAGGCCAGCGGGCGCCGTCGGCGGCTGGCCCTGTCGGCCGC
GGGATGAGGAAGCGGACCGAGCCCGTCGCCTTGGAGCATGAGCGCTGCGCCGCCGCGGGCTCGTCCTCCTCCGGCTCGGCCGCCGCGGCG
CTGGACGCCGACTGCCGCCTGAAGCAGAACCTACGCCTGACGGGCCCGGCGGCGGCTGAGCCGCGCTGCGCAGCCGACGCGGGAATGAAG
CGGGCGCTGGGCAGGTGAACCTGAGCAAGGTGGGCGAGTATTGGTGGAACGCCATCCTGGAGGGAGAAGAGCCCATCGACATTGACAAGA
TCAACAAGGAGCGCTCCATGGCCACCGTGGATGAGGAGGAACAGGCGGTGTTGGACAGGCTTACCTTTGACTACCACCAGAAGCTGCAGG
GCAAGCCACAGAGCCATGAGCTGAAAGTCCATGAGATGCTGAAGAAGGGGTGGGATGCTGAAGGTTCTCCCTTCCGAGGCCAGCGATTCG
ACCCTGCCATGTTCAACATCTCCCCGGGGGCTGTGCAGTTTTAATGACCAGAAGGAAAGGAAACCCTCGCCGGTGGGGAGGCAGAGCCTT
ATCCTCGGCTGCCCTTCTTGGCTCCCTGCATTCCAGGGACTTGCTCGTCTTGTTTACCCCTAGCCATCCTTTCTTTCAAGGGTGAACCAG
GCCTTCCACCCTGACCTTGCATCTCCAGACTGTTCCAGAGAAGGTGCGGGGCCAGCTGCTATGTGGTGGCCGCTGTGGCTGACACTGAGT
GAAGGTGTTTGAAATGCAGGAGAGGATATCCCAGCAAATTGGGATCACATGCTTTTGTCTCCACAGCAACCAGCCACTGCAGGCAGCATG
TCTTTCCTCCCCTGCTCTCTGCTTGCTGTTGTTTTGACGCTATTCTGCTTGCATGTCTTCTGGTTGGGATGTGGAGTTGTTGCTGGACTC
TCAGGCGAAGCTGAAGTCATTGAAGTGTGTGAAGCTCTGTGCTTGCATGAGGGCAAGCAAGGAATGGCTGTGCCTGAGGCTGCTCTGGGA
AACTCCTTGCCCCTTGACCTCTTTTGAGAGCATTCACGTGGTCTTCTTGCTCATCCCCTTATAAATGTGCTTTGCCTGCCTCAGCCTCAT
GGTCAGAGCAGTGGAGACTGGAGCCCTGTTTGCACGTTCTAGTTGTTCGGAGAAAGCCTAGGTTCTGGGCTCAGGTCCAGATGCAGCGGG
GATTCTGTTCTCTGACTGTGGCGACCTTGCTTTGGTTCTTGTTGAAGTGAACCAAGCCCGGCCACCACGCATGGCATGCTGTGCTTGGCT
CCCCATAAGACGTCCTCTTTGGGTGCACGGTGTCAAAGTGTGGGCAGGAGTGGAGAGCTGGTGCCCTCAGGAGGAGACCACAGCATGTCC
ATCAGCTCAGCAGAGCTCGACAGCCACAAGTCCTGAGAAGCTTTGACCTTGAAGGGCTTCTGGGAGAGGAGGAATTTCTGCATGGGGCGT
GAAGGCACACTGTCCCACCACAACTGAACCAGAAGAGAGTGAAGACTCCCCTCTTCCCATCCTCTGTGCCAGGTGCCAGACTGTGCTCCT
TGGAACTTATGGCCCAATCTTACCTGTTCTCCAGGGACTGGTCACTGCCTCAGGACCCCCAAGCCTATGCCCTGAGCCATGGCTGCTGAC
TGACTCCAGCCAAGGTGCAAAGACGAGATTATGAGACAGGTCCTCAGGCCTGTGTTCCAAGTACTCACAGGGGCTCTGGGTGCCCATCGC
CGGGAGTATGGTTCAGCTGCCACCGGCACTGTCCATTTGCCTGTCTGTCAAGCTCAGAGCATGGATAAGCCACACAGCAGGGCAGTGCAC
CCTGGCACCATGCACGGCCAGCAAGAATCAAGGCCCGCAGATGCTAAGAGGGCCTATTGTCAGGGGAAGGTCCCCGCTCCTGCACACTCT
CTATGGATACTTGGGTTGTGGGGGCTCTCTTGGAGAGTAAGTTTGTGGTTTGTTTCTGGTTTACAGTGGTGGCTGACACCCCTTGTAAGA
AAGCATTCCTGGGAAGTCTTCTGTGGGTCCAAACATGTTGCTCCGATCATCACAGGAGAGCAAAAGGCCCTAGATACCCCCTTTGGAATG
TGAGAGTCTTGTTGTCTGATATTTGCCACTGAGCTGGTGAAGCCCCTCTAAAGAGATCTCGACCCTGGGGAGCAGAATTCTTGTCATCTA
TGAGGGGTCCTGAGAAAGACTTGTCATTTTTTTTCCTGGAGTTCTTCCCATTGAGGTCCTAGGATTTGCACACCACTGTCCCACAAGAGC
TTTCCTGCCTAATGAAAGGAGGTCTTGTGGTGTGTGTCTCCTCTCTTCTCTATAGTTCCCGAGTTGGCCCCCATTGCAGCCCCCACCCTG
TGGGTAGTCTTCCAGAAGTGATGCAGTGGTGTGAGATGCCCTACACCTTGTTATTTGGGAGACTTTGAGAGTCATTCACTTCCATGGTGA
CTAGTGTTTGTTTTGCCTGATTTTATATTCTGTGTTGCATTTCTCCCCACTCCCTGCCCTGCTTTAATAAACAGCAAACCAATATCTAGG
AAGAATGACTGAGGGATAGTATTGGGTATTGGCCCCATGGCAGGAACAGCCACTTGCATCTGGTCCCGGTGCCACACTGCGGTGCTTGGT
GTGGTTGTGGAGCCTGTCCCTGCGCGCCTTGCTCCCGTTGAGCCACGCTGTCTGGTGGGTGATTCTCTGCCCTGAGCCACCACCCTGGAC
TGGCCCAGTCTCCAGAGCTGGCACACCCTGCCTGTTTTCTCTTTTTAGACACAACAGCCGCAGTTTGGCCAGCCACTAAGTCCCACCAGC
TGAGGTCCGAGGAAAGCGGGGTGACTCATTTCCCTTGTCCAGGGCCCGAGGAGAGTGAGGTGTCCAGCCTGCAAAGCTATTCCAGCTCCT
TGGTGTTGGTTTGCAATAAATTGGTATTTAAGCAGTTCTGGGTCTGCGTGTGACATTTGCTGCTGAGACAGTTCTGTCTGTGCATGGTCA
TTATTGTTGCATTCTAGCCTTGAGGTCCCAGGCCAACGTACACAGCAAACACCAGCATGGGGAATTCTTAGGGGTTGTTTCCCATCTGGT
CTGAATGCACTGGGCAAGATCTCAATACAGCTTTAGAAATCCTGTAAGATTTTGACCAGTGGGGAGAAAAAGAATGTAGCTATAGATCTT
ACATCCTTTCAAACAGGTTCTGGAATTCTGTAGTTACTGGAAAGCTTAGGGTGAGTGCAGAGTTGGGAATGATTCCACTGAAGGGCCACC
TTTGCCCACCAGGCTCCAAGGCCCTCCTTGGTCTCCAGGTGCATACCTGCTGTTAACTTTGCTGAGCCCTCGCAATGGGCTTCCTCCAGG
ACATAACGCCGTGTCTGACACAGAAGTCTCCCAGGTGGCTGGCCACCTGCTTCTTCCTCAGTCAGATCTTTGACTCTCCTTCTCTGTGCC
CACCCCATCTCCAGCCTCCTCTGACCCTGCTCACCCCTGGGGACAGGACCTAGGGGTGTGAGAAGTACTTGGCTGAATAAAGACTGTTTC
AAAGGCAATCCTTAGAATTGCCTAGCATACTCCCAGGGCCAGAAATAACCCGCCAGAAAGGAGAGGCGTATTTGCCCCTGAAGAGTGCAG
GAGGGAGAACAGTTGAGAAGTGTTTTGTGTGGAAATGTGTCCAAGAGGCGTCAGCTGCTGCACAGAGAACTCACTGCCCAGAACACTGCG
CTTGGGGAACAGACCTCACCCCCACCTCAAATCTGCTCTCCACTGGGCCTGTTGGCAGCCAGCTCAGCTGGGGAAGGGACAGCATGACTC
GCTTTGTCGATGAAAAGCACGAAGTTGTCAGCACAGAACCTGGCCAGTCCTTGAGAAACTCCCTCCTTGGTGGTCAGAGGTCAAGCAGCC
CATGTGGCCCACGGTCCTGAAGAACTGGGCTATGTCCCTGAGGCTCCTCTCTACCGTCTGACTGTGGGGTCTGGGGAACAGGCATTTAAA
CCAGGCTGCTGCCCTGGGGAGTGCCCACTGGACGCCAGGGTGCCCCATAGGGACAGGGTCACAAAGCCCTGGGGCTTCCCCTGCCAGTCC
TGGTGAGGACAGTGTGGTCACTATCTCAGAGAGACGAAAAATGAATATTCTGTCATTTCAGACTAAACTACTCACCCAGCTCACACTAAT
ATGGATTTGTTAATTTTACCTTTTTTTTTCTTTCCAACTTTAGGTTCAAGGGTTGTTACATGGGTAAATTGGATCATAGGGGTTTGGTGT
ACAGATAATTTTGTCACCCAGGTAATCAGCATGATACCTGATATGTAGTTTTTCAGTCCTCACCTTCCTCCCACTCGGTTTTATTTTTTA
GTACTGAAAGTTTAACAGATTGGTCTTACCTCAGAGGGAGGGAAGAAACCCCCCCATCGCTGGGCTCCTTGGTGTGACAGGGGTCTGGTA
GGGGTTTTCAATCCCACCACCCATTCCTCCACACCAAATGCCTGAAGTCCCCACTTTGCACAGGGAGACAGCATCGTGCCAGGGAAGAGA
GGTCAGGCCCGGCTACCCCTCACAACTTCCTGCTTCCCCCTCAGAGGGTGATGGGGAGACCAGAGCCCATGGCAGGATGAACTGTCACTG
AACCCAGCTGGCACAGGTCTGCCAGAACACTCTGGGGGTATGCGCTGGGCTTTCTGGGTAAACCCCTGGCAAGCTGGCGTTTGCTGTCTT
CTCAGTGCTGATGGAGATAGGCACACATGGGGTGTGGGAATGTGGCCACCCTCAGGCAGGTTCACGAGGGTACTGTCAGGCGCTCAGGTG
TATGCCGCCTCCTGTCAGGCAGGGCTGAGGCTATTCTCCCTGGAGAAGGACAGCTTAGGAAACACTTGCAGGAAAGCTGCCTGGACCTGG
GAGGTGACCCTGGCCAGCCTCCCTGCTGCCTCTCTCAGTCCTAGGCCTTCTTCCCCAGAGCTGGTCAGGGCCTGAGGGACTTTGTAGTCT
AACCCCTCATTGTGCTACAATCACAGGAGTAAGTAACACTCCCAAGGCCATGTGGCTGGTGACTCGGGGGGCCCAGGTCCAGGATCCTGC
CCCATCTGCAGGCCAGTGGTTCCTTGTCTCCTATTTGCTTCTTGGAGCAGCCTCCTCATAAGCCAACAGCTCCTTCACCTGAGCCCAGTC
ACTTTGCGCTCCTCCCCAGAACCAAAGAGCAAGACCATCTGCCCCAGGTACAGTCCTGGCCATGCCACACTCTCTGTGGCATCATGACCA
AGGTGAGTGGCAGATACTGAAATCATCCAGGGCCACTGCAGGCCCCATTCCCAGTGGACTGTTCATCAAGGGACCCTGTCTCAGGCCATC
TCAGCCAACCTTGTTGCCCAGCACAGGTCTGGCACATTGGAGATGATCTGTGTTGGATGGGGAAGGCAGAGGGAGGATCCTCCAGCATTG
ATCACCCATCAAAACCCTCAACAACCCAGACATTGCCGCTGCACTGACCCCATGCTATGAGGAGGTCACTCAGGCTGTTAGGAGCCTGCT
GACTCAGGCATTGGGCTGGGGCCCTGCCTGCCTTGTCTGCCTGCCAGCGGAGCACTGCCCCAAGCCCTTCTTACTGCAGAGACAGGCTCT
TGCCTCCCAGTGTGCACTTTGTGCAAGACACAGGCAGGTAAGGGTCTACCAGAGGACAGGAAGTGTTGTTGGGGCACTGTGGGGTTTGGA
GGAGGCCCCTCTAGCAGGGAAAGCGAGCCCTAACCTCTGCTGGACTAGGGAGTTTAGGAAGCTGCTCTGGTTCAGGGAACTGGGGATCCA
GATAACTGGGGATCAAGGCCATCTTGTGACCCCAGTGGTGGTCCCTAGTGGGACTGCTGAGCTCCAGCCTGAGAGTTCATGAACTCAACA
GTGATTGCTTGTGGGTACTAATGACCCAGTGTGTGGAGACCTCATTTACCAGGTGTGCCTAGCCTGCAGGCAAATCCCAAGGCAGTGACC
CTTAGGGAAGAGACAGCGTTTGGGGTCATCAAAGGCTGGGAAACCCAGGTACCTGTCAGGGAATGGGCTACAGACTGGAGCTAAGCCTTA
AGGTGGGGAAGATTCCAGCACCCCTGAGTGACCACCTCTTTTGGTAATGCAAAGAAGGGATTTTGTGACTCCAGGGTGACATTTCTAAGC
TTGGCATCATGCAGGGTGGGCTTGGGCTCAATATGGGTGACTGTTAGTCTAGGGCTGTCTCAATGAGGCTGTCCAGGCAGAAAGGCTTAC
ACACCTGGCAGGCAGAGGGTCTAGAGAGGAAGGGGCAACAGGCCTAAGGAGGGGACAGCCAGGCAAGGAGGTAGAATAGGCCTTGTCTGG
ACAGTGGTCACCTGTTAGGTCCACAGCTTGTCCTCCCTGGCCTGACCAGCCAGGTGAGGAGAGATCCAAACCATCCACCTGAAAGCATTC
AGGGTGCCTGATGACAAGACCCCAGCCACTGTGGGCTCTCATGTCCTGGTAGGAAGGTATACCTAAAGCAGGTGGACCTGGTAGTGGTGG
ACGCTGTCTGCCTCCCCGGGGCTTGTCTGTTTATGCCAGACCGTTTTCCCATTTGCTTCCACCTCCAGCTCAGAGAGGAATCACCTTCAC
ACCTCTGCTAAAACTAACCCAGCTCTGCACCCACCATTCCCCACTGTGCAACACCTGCTACTGGAGAACCCTGCCCCCTCAAATACACGT
CATCCTCAGGGCCCTGCGATGTGCTGTGGTCTCCCTGCCACCATTCAAGGGGCCACAGCCAGGTCCAGCCTGTCTTCCCTGGCACCAGGC
TCTATGCAGTGGGGGAAACTCGGGCACCCCTAAACTATTCTCCAGTGTTCTCACCAGAGGTGGTCAGCCATGTGATGGCAAGAGTCACTT
CTTAAGCTTTTGCTATCCCCAGAAACTTAAAGCAACACCAACCACACCCAAAAGTCAAGTGATATCCAGACAGCAACAGTAGAGCATTAA
CTGAGTGCAGGGCCGTGGTGACTCCTCGACACTCCAGGCTCTCCTGCTGGTAACCTCCCATTGGCAGAGCCAGGCACTCAGCAAAGCCCT
GGACAGTCAGCAGCCTCCTGAACAGGCTCTGCTGTCCCCACTCACGACTTCAGAGCAGCTAGGACTCCTGTGACCACCCCTGTCCCCTGT
TCCCCCCCACCCCGCCCCGCCCCGCCAACTGCCTCATCTCTGTCCCAAGATAACTGCTCTCCAGAATTTTCCATGATATGGTCATTTTAA
AAGTTTTTTTTTTTTTTGAGACAGAGTTTTTCCTGTGTTGCCCAGACTGGACTCAAACCTCTGGGCTCAAGTGATCCTCCTGCTTCAGCC
TCCCAAGTAGCTGGGACTGTAAGTGTGCACCACTGTGCCTGGCTTGATGGTGTCATTTTTCACTGTACGTGTATTTGTAAACCGTATAAA

>378_378_1_ABHD12-NUDCD3_ABHD12_chr20_25371148_ENST00000339157_NUDCD3_chr7_44432084_ENST00000355451_length(amino acids)=199AA_BP=1
MSNTACSSSSTVAMERSLLILSMSMGSSPSRMAFHQYSPTLLRFTCPAPASFPRRLRSAAQPPPGPSGVGSASGGSRRPAPRRPSRRRTS
PRRRSAHAPRRRARSASSSRGRQGQPPTAPAGLRRSAAAHSRRHPEPGARNPPLLTSQPRPLRRLRTSGGGPPARPANQRRAPAGSALPP

--------------------------------------------------------------
>378_378_2_ABHD12-NUDCD3_ABHD12_chr20_25371148_ENST00000376542_NUDCD3_chr7_44432084_ENST00000355451_length(transcript)=7661nt_BP=471nt
GCCAGGGATGCTGGGCGCGCGCTCCTTGGAACTAGAGAGGAGGTGGCCGGGGCGGGGCCGGGGGAGGGGGGTAGGGCAGAGCCGGCGGGA
GCCCGGCGCTGATTGGCCGGCCTGGCTGGCGGGCCCCCGCCGCTGGTTCGTAGCCGGCGCAGCGGCCTGGGCTGGGATGTGAGGAGCGGC
GGGTTCCGGGCTCCGGGCTCTGGGTGGCGGCGGCTGTGAGCGGCGGCACTGCGGCGCAGGCCAGCGGGCGCCGTCGGCGGCTGGCCCTGT
CGGCCGCGGGATGAGGAAGCGGACCGAGCCCGTCGCCTTGGAGCATGAGCGCTGCGCCGCCGCGGGCTCGTCCTCCTCCGGCTCGGCCGC
CGCGGCGCTGGACGCCGACTGCCGCCTGAAGCAGAACCTACGCCTGACGGGCCCGGCGGCGGCTGAGCCGCGCTGCGCAGCCGACGCGGG
AATGAAGCGGGCGCTGGGCAGGTGAACCTGAGCAAGGTGGGCGAGTATTGGTGGAACGCCATCCTGGAGGGAGAAGAGCCCATCGACATT
GACAAGATCAACAAGGAGCGCTCCATGGCCACCGTGGATGAGGAGGAACAGGCGGTGTTGGACAGGCTTACCTTTGACTACCACCAGAAG
CTGCAGGGCAAGCCACAGAGCCATGAGCTGAAAGTCCATGAGATGCTGAAGAAGGGGTGGGATGCTGAAGGTTCTCCCTTCCGAGGCCAG
CGATTCGACCCTGCCATGTTCAACATCTCCCCGGGGGCTGTGCAGTTTTAATGACCAGAAGGAAAGGAAACCCTCGCCGGTGGGGAGGCA
GAGCCTTATCCTCGGCTGCCCTTCTTGGCTCCCTGCATTCCAGGGACTTGCTCGTCTTGTTTACCCCTAGCCATCCTTTCTTTCAAGGGT
GAACCAGGCCTTCCACCCTGACCTTGCATCTCCAGACTGTTCCAGAGAAGGTGCGGGGCCAGCTGCTATGTGGTGGCCGCTGTGGCTGAC
ACTGAGTGAAGGTGTTTGAAATGCAGGAGAGGATATCCCAGCAAATTGGGATCACATGCTTTTGTCTCCACAGCAACCAGCCACTGCAGG
CAGCATGTCTTTCCTCCCCTGCTCTCTGCTTGCTGTTGTTTTGACGCTATTCTGCTTGCATGTCTTCTGGTTGGGATGTGGAGTTGTTGC
TGGACTCTCAGGCGAAGCTGAAGTCATTGAAGTGTGTGAAGCTCTGTGCTTGCATGAGGGCAAGCAAGGAATGGCTGTGCCTGAGGCTGC
TCTGGGAAACTCCTTGCCCCTTGACCTCTTTTGAGAGCATTCACGTGGTCTTCTTGCTCATCCCCTTATAAATGTGCTTTGCCTGCCTCA
GCCTCATGGTCAGAGCAGTGGAGACTGGAGCCCTGTTTGCACGTTCTAGTTGTTCGGAGAAAGCCTAGGTTCTGGGCTCAGGTCCAGATG
CAGCGGGGATTCTGTTCTCTGACTGTGGCGACCTTGCTTTGGTTCTTGTTGAAGTGAACCAAGCCCGGCCACCACGCATGGCATGCTGTG
CTTGGCTCCCCATAAGACGTCCTCTTTGGGTGCACGGTGTCAAAGTGTGGGCAGGAGTGGAGAGCTGGTGCCCTCAGGAGGAGACCACAG
CATGTCCATCAGCTCAGCAGAGCTCGACAGCCACAAGTCCTGAGAAGCTTTGACCTTGAAGGGCTTCTGGGAGAGGAGGAATTTCTGCAT
GGGGCGTGAAGGCACACTGTCCCACCACAACTGAACCAGAAGAGAGTGAAGACTCCCCTCTTCCCATCCTCTGTGCCAGGTGCCAGACTG
TGCTCCTTGGAACTTATGGCCCAATCTTACCTGTTCTCCAGGGACTGGTCACTGCCTCAGGACCCCCAAGCCTATGCCCTGAGCCATGGC
TGCTGACTGACTCCAGCCAAGGTGCAAAGACGAGATTATGAGACAGGTCCTCAGGCCTGTGTTCCAAGTACTCACAGGGGCTCTGGGTGC
CCATCGCCGGGAGTATGGTTCAGCTGCCACCGGCACTGTCCATTTGCCTGTCTGTCAAGCTCAGAGCATGGATAAGCCACACAGCAGGGC
AGTGCACCCTGGCACCATGCACGGCCAGCAAGAATCAAGGCCCGCAGATGCTAAGAGGGCCTATTGTCAGGGGAAGGTCCCCGCTCCTGC
ACACTCTCTATGGATACTTGGGTTGTGGGGGCTCTCTTGGAGAGTAAGTTTGTGGTTTGTTTCTGGTTTACAGTGGTGGCTGACACCCCT
TGTAAGAAAGCATTCCTGGGAAGTCTTCTGTGGGTCCAAACATGTTGCTCCGATCATCACAGGAGAGCAAAAGGCCCTAGATACCCCCTT
TGGAATGTGAGAGTCTTGTTGTCTGATATTTGCCACTGAGCTGGTGAAGCCCCTCTAAAGAGATCTCGACCCTGGGGAGCAGAATTCTTG
TCATCTATGAGGGGTCCTGAGAAAGACTTGTCATTTTTTTTCCTGGAGTTCTTCCCATTGAGGTCCTAGGATTTGCACACCACTGTCCCA
CAAGAGCTTTCCTGCCTAATGAAAGGAGGTCTTGTGGTGTGTGTCTCCTCTCTTCTCTATAGTTCCCGAGTTGGCCCCCATTGCAGCCCC
CACCCTGTGGGTAGTCTTCCAGAAGTGATGCAGTGGTGTGAGATGCCCTACACCTTGTTATTTGGGAGACTTTGAGAGTCATTCACTTCC
ATGGTGACTAGTGTTTGTTTTGCCTGATTTTATATTCTGTGTTGCATTTCTCCCCACTCCCTGCCCTGCTTTAATAAACAGCAAACCAAT
ATCTAGGAAGAATGACTGAGGGATAGTATTGGGTATTGGCCCCATGGCAGGAACAGCCACTTGCATCTGGTCCCGGTGCCACACTGCGGT
GCTTGGTGTGGTTGTGGAGCCTGTCCCTGCGCGCCTTGCTCCCGTTGAGCCACGCTGTCTGGTGGGTGATTCTCTGCCCTGAGCCACCAC
CCTGGACTGGCCCAGTCTCCAGAGCTGGCACACCCTGCCTGTTTTCTCTTTTTAGACACAACAGCCGCAGTTTGGCCAGCCACTAAGTCC
CACCAGCTGAGGTCCGAGGAAAGCGGGGTGACTCATTTCCCTTGTCCAGGGCCCGAGGAGAGTGAGGTGTCCAGCCTGCAAAGCTATTCC
AGCTCCTTGGTGTTGGTTTGCAATAAATTGGTATTTAAGCAGTTCTGGGTCTGCGTGTGACATTTGCTGCTGAGACAGTTCTGTCTGTGC
ATGGTCATTATTGTTGCATTCTAGCCTTGAGGTCCCAGGCCAACGTACACAGCAAACACCAGCATGGGGAATTCTTAGGGGTTGTTTCCC
ATCTGGTCTGAATGCACTGGGCAAGATCTCAATACAGCTTTAGAAATCCTGTAAGATTTTGACCAGTGGGGAGAAAAAGAATGTAGCTAT
AGATCTTACATCCTTTCAAACAGGTTCTGGAATTCTGTAGTTACTGGAAAGCTTAGGGTGAGTGCAGAGTTGGGAATGATTCCACTGAAG
GGCCACCTTTGCCCACCAGGCTCCAAGGCCCTCCTTGGTCTCCAGGTGCATACCTGCTGTTAACTTTGCTGAGCCCTCGCAATGGGCTTC
CTCCAGGACATAACGCCGTGTCTGACACAGAAGTCTCCCAGGTGGCTGGCCACCTGCTTCTTCCTCAGTCAGATCTTTGACTCTCCTTCT
CTGTGCCCACCCCATCTCCAGCCTCCTCTGACCCTGCTCACCCCTGGGGACAGGACCTAGGGGTGTGAGAAGTACTTGGCTGAATAAAGA
CTGTTTCAAAGGCAATCCTTAGAATTGCCTAGCATACTCCCAGGGCCAGAAATAACCCGCCAGAAAGGAGAGGCGTATTTGCCCCTGAAG
AGTGCAGGAGGGAGAACAGTTGAGAAGTGTTTTGTGTGGAAATGTGTCCAAGAGGCGTCAGCTGCTGCACAGAGAACTCACTGCCCAGAA
CACTGCGCTTGGGGAACAGACCTCACCCCCACCTCAAATCTGCTCTCCACTGGGCCTGTTGGCAGCCAGCTCAGCTGGGGAAGGGACAGC
ATGACTCGCTTTGTCGATGAAAAGCACGAAGTTGTCAGCACAGAACCTGGCCAGTCCTTGAGAAACTCCCTCCTTGGTGGTCAGAGGTCA
AGCAGCCCATGTGGCCCACGGTCCTGAAGAACTGGGCTATGTCCCTGAGGCTCCTCTCTACCGTCTGACTGTGGGGTCTGGGGAACAGGC
ATTTAAACCAGGCTGCTGCCCTGGGGAGTGCCCACTGGACGCCAGGGTGCCCCATAGGGACAGGGTCACAAAGCCCTGGGGCTTCCCCTG
CCAGTCCTGGTGAGGACAGTGTGGTCACTATCTCAGAGAGACGAAAAATGAATATTCTGTCATTTCAGACTAAACTACTCACCCAGCTCA
CACTAATATGGATTTGTTAATTTTACCTTTTTTTTTCTTTCCAACTTTAGGTTCAAGGGTTGTTACATGGGTAAATTGGATCATAGGGGT
TTGGTGTACAGATAATTTTGTCACCCAGGTAATCAGCATGATACCTGATATGTAGTTTTTCAGTCCTCACCTTCCTCCCACTCGGTTTTA
TTTTTTAGTACTGAAAGTTTAACAGATTGGTCTTACCTCAGAGGGAGGGAAGAAACCCCCCCATCGCTGGGCTCCTTGGTGTGACAGGGG
TCTGGTAGGGGTTTTCAATCCCACCACCCATTCCTCCACACCAAATGCCTGAAGTCCCCACTTTGCACAGGGAGACAGCATCGTGCCAGG
GAAGAGAGGTCAGGCCCGGCTACCCCTCACAACTTCCTGCTTCCCCCTCAGAGGGTGATGGGGAGACCAGAGCCCATGGCAGGATGAACT
GTCACTGAACCCAGCTGGCACAGGTCTGCCAGAACACTCTGGGGGTATGCGCTGGGCTTTCTGGGTAAACCCCTGGCAAGCTGGCGTTTG
CTGTCTTCTCAGTGCTGATGGAGATAGGCACACATGGGGTGTGGGAATGTGGCCACCCTCAGGCAGGTTCACGAGGGTACTGTCAGGCGC
TCAGGTGTATGCCGCCTCCTGTCAGGCAGGGCTGAGGCTATTCTCCCTGGAGAAGGACAGCTTAGGAAACACTTGCAGGAAAGCTGCCTG
GACCTGGGAGGTGACCCTGGCCAGCCTCCCTGCTGCCTCTCTCAGTCCTAGGCCTTCTTCCCCAGAGCTGGTCAGGGCCTGAGGGACTTT
GTAGTCTAACCCCTCATTGTGCTACAATCACAGGAGTAAGTAACACTCCCAAGGCCATGTGGCTGGTGACTCGGGGGGCCCAGGTCCAGG
ATCCTGCCCCATCTGCAGGCCAGTGGTTCCTTGTCTCCTATTTGCTTCTTGGAGCAGCCTCCTCATAAGCCAACAGCTCCTTCACCTGAG
CCCAGTCACTTTGCGCTCCTCCCCAGAACCAAAGAGCAAGACCATCTGCCCCAGGTACAGTCCTGGCCATGCCACACTCTCTGTGGCATC
ATGACCAAGGTGAGTGGCAGATACTGAAATCATCCAGGGCCACTGCAGGCCCCATTCCCAGTGGACTGTTCATCAAGGGACCCTGTCTCA
GGCCATCTCAGCCAACCTTGTTGCCCAGCACAGGTCTGGCACATTGGAGATGATCTGTGTTGGATGGGGAAGGCAGAGGGAGGATCCTCC
AGCATTGATCACCCATCAAAACCCTCAACAACCCAGACATTGCCGCTGCACTGACCCCATGCTATGAGGAGGTCACTCAGGCTGTTAGGA
GCCTGCTGACTCAGGCATTGGGCTGGGGCCCTGCCTGCCTTGTCTGCCTGCCAGCGGAGCACTGCCCCAAGCCCTTCTTACTGCAGAGAC
AGGCTCTTGCCTCCCAGTGTGCACTTTGTGCAAGACACAGGCAGGTAAGGGTCTACCAGAGGACAGGAAGTGTTGTTGGGGCACTGTGGG
GTTTGGAGGAGGCCCCTCTAGCAGGGAAAGCGAGCCCTAACCTCTGCTGGACTAGGGAGTTTAGGAAGCTGCTCTGGTTCAGGGAACTGG
GGATCCAGATAACTGGGGATCAAGGCCATCTTGTGACCCCAGTGGTGGTCCCTAGTGGGACTGCTGAGCTCCAGCCTGAGAGTTCATGAA
CTCAACAGTGATTGCTTGTGGGTACTAATGACCCAGTGTGTGGAGACCTCATTTACCAGGTGTGCCTAGCCTGCAGGCAAATCCCAAGGC
AGTGACCCTTAGGGAAGAGACAGCGTTTGGGGTCATCAAAGGCTGGGAAACCCAGGTACCTGTCAGGGAATGGGCTACAGACTGGAGCTA
AGCCTTAAGGTGGGGAAGATTCCAGCACCCCTGAGTGACCACCTCTTTTGGTAATGCAAAGAAGGGATTTTGTGACTCCAGGGTGACATT
TCTAAGCTTGGCATCATGCAGGGTGGGCTTGGGCTCAATATGGGTGACTGTTAGTCTAGGGCTGTCTCAATGAGGCTGTCCAGGCAGAAA
GGCTTACACACCTGGCAGGCAGAGGGTCTAGAGAGGAAGGGGCAACAGGCCTAAGGAGGGGACAGCCAGGCAAGGAGGTAGAATAGGCCT
TGTCTGGACAGTGGTCACCTGTTAGGTCCACAGCTTGTCCTCCCTGGCCTGACCAGCCAGGTGAGGAGAGATCCAAACCATCCACCTGAA
AGCATTCAGGGTGCCTGATGACAAGACCCCAGCCACTGTGGGCTCTCATGTCCTGGTAGGAAGGTATACCTAAAGCAGGTGGACCTGGTA
GTGGTGGACGCTGTCTGCCTCCCCGGGGCTTGTCTGTTTATGCCAGACCGTTTTCCCATTTGCTTCCACCTCCAGCTCAGAGAGGAATCA
CCTTCACACCTCTGCTAAAACTAACCCAGCTCTGCACCCACCATTCCCCACTGTGCAACACCTGCTACTGGAGAACCCTGCCCCCTCAAA
TACACGTCATCCTCAGGGCCCTGCGATGTGCTGTGGTCTCCCTGCCACCATTCAAGGGGCCACAGCCAGGTCCAGCCTGTCTTCCCTGGC
ACCAGGCTCTATGCAGTGGGGGAAACTCGGGCACCCCTAAACTATTCTCCAGTGTTCTCACCAGAGGTGGTCAGCCATGTGATGGCAAGA
GTCACTTCTTAAGCTTTTGCTATCCCCAGAAACTTAAAGCAACACCAACCACACCCAAAAGTCAAGTGATATCCAGACAGCAACAGTAGA
GCATTAACTGAGTGCAGGGCCGTGGTGACTCCTCGACACTCCAGGCTCTCCTGCTGGTAACCTCCCATTGGCAGAGCCAGGCACTCAGCA
AAGCCCTGGACAGTCAGCAGCCTCCTGAACAGGCTCTGCTGTCCCCACTCACGACTTCAGAGCAGCTAGGACTCCTGTGACCACCCCTGT
CCCCTGTTCCCCCCCACCCCGCCCCGCCCCGCCAACTGCCTCATCTCTGTCCCAAGATAACTGCTCTCCAGAATTTTCCATGATATGGTC
ATTTTAAAAGTTTTTTTTTTTTTTGAGACAGAGTTTTTCCTGTGTTGCCCAGACTGGACTCAAACCTCTGGGCTCAAGTGATCCTCCTGC
TTCAGCCTCCCAAGTAGCTGGGACTGTAAGTGTGCACCACTGTGCCTGGCTTGATGGTGTCATTTTTCACTGTACGTGTATTTGTAAACC

>378_378_2_ABHD12-NUDCD3_ABHD12_chr20_25371148_ENST00000376542_NUDCD3_chr7_44432084_ENST00000355451_length(amino acids)=201AA_BP=1
MSNTACSSSSTVAMERSLLILSMSMGSSPSRMAFHQYSPTLLRFTCPAPASFPRRLRSAAQPPPGPSGVGSASGGSRRPAPRRPSRRRTS
PRRRSAHAPRRRARSASSSRGRQGQPPTAPAGLRRSAAAHSRRHPEPGARNPPLLTSQPRPLRRLRTSGGGPPARPANQRRAPAGSALPP

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Fusion Gene PPI Analysis for ABHD12-NUDCD3


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-NUDCD3


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-NUDCD3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneABHD12C2675204Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract8CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneABHD12C0004138Ataxias, Hereditary1GENOMICS_ENGLAND
HgeneABHD12C0018784Sensorineural Hearing Loss (disorder)1GENOMICS_ENGLAND
HgeneABHD12C0028738Nystagmus1GENOMICS_ENGLAND
HgeneABHD12C0029124Optic Atrophy1GENOMICS_ENGLAND
HgeneABHD12C0035334Retinitis Pigmentosa1GENOMICS_ENGLAND
HgeneABHD12C0040822Tremor1GENOMICS_ENGLAND
HgeneABHD12C0151888Hyporeflexia1GENOMICS_ENGLAND
HgeneABHD12C0235259Subcapsular cataract1GENOMICS_ENGLAND
HgeneABHD12C0270922Peripheral demyelinating neuropathy1GENOMICS_ENGLAND
HgeneABHD12C1112256Sensorimotor neuropathy1GENOMICS_ENGLAND
HgeneABHD12C1384666hearing impairment1GENOMICS_ENGLAND
HgeneABHD12C1847584Distal sensory impairment1GENOMICS_ENGLAND
HgeneABHD12C1857640Decreased nerve conduction velocity1GENOMICS_ENGLAND
HgeneABHD12C1963184Nystagmus, CTCAE 3.01GENOMICS_ENGLAND
HgeneABHD12C2675205Distal muscle atrophy due to neurologic disease1GENOMICS_ENGLAND
HgeneABHD12C2675206Normal serum phytanic and pristanic acid1GENOMICS_ENGLAND
HgeneABHD12C4554036Nystagmus, CTCAE 5.01GENOMICS_ENGLAND
TgeneC0023903Liver neoplasms1CTD_human
TgeneC0345904Malignant neoplasm of liver1CTD_human