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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:AHCY-ANKRD42 (FusionGDB2 ID:HG191TG338699)

Fusion Gene Summary for AHCY-ANKRD42

check button Fusion gene summary
Fusion gene informationFusion gene name: AHCY-ANKRD42
Fusion gene ID: hg191tg338699
HgeneTgene
Gene symbol

AHCY

ANKRD42

Gene ID

191

338699

Gene nameadenosylhomocysteinaseankyrin repeat domain 42
SynonymsSAHH|adoHcyasePPP1R79|SARP
Cytomap('AHCY')('ANKRD42')

20q11.22

11q14.1

Type of geneprotein-codingprotein-coding
DescriptionadenosylhomocysteinaseS-adenosyl-L-homocysteine hydrolaseS-adenosylhomocysteine hydrolaseepididymis secretory sperm binding proteinankyrin repeat domain-containing protein 42protein phosphatase 1, regulatory subunit 79several ankyrin repeat protein
Modification date2020032020200313
UniProtAcc.

Q8N9B4

Ensembl transtripts involved in fusion geneENST00000217426, ENST00000538132, 
ENST00000468908, 
Fusion gene scores* DoF score9 X 9 X 4=3244 X 6 X 3=72
# samples 95
** MAII scorelog2(9/324*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/72*10)=-0.526068811667588
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AHCY [Title/Abstract] AND ANKRD42 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAHCY(32868074)-ANKRD42(82936820), # 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


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/ACS190445AHCYchr20

32868074

-ANKRD42chr11

82936820

+


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Fusion Gene ORF analysis for AHCY-ANKRD42

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-intronENST00000217426ENST00000260047AHCYchr20

32868074

-ANKRD42chr11

82936820

+
5CDS-intronENST00000217426ENST00000393389AHCYchr20

32868074

-ANKRD42chr11

82936820

+
5CDS-intronENST00000217426ENST00000393392AHCYchr20

32868074

-ANKRD42chr11

82936820

+
5CDS-intronENST00000217426ENST00000526731AHCYchr20

32868074

-ANKRD42chr11

82936820

+
5CDS-intronENST00000217426ENST00000528190AHCYchr20

32868074

-ANKRD42chr11

82936820

+
5CDS-intronENST00000217426ENST00000528722AHCYchr20

32868074

-ANKRD42chr11

82936820

+
5CDS-intronENST00000217426ENST00000531895AHCYchr20

32868074

-ANKRD42chr11

82936820

+
5CDS-intronENST00000217426ENST00000533342AHCYchr20

32868074

-ANKRD42chr11

82936820

+
5CDS-intronENST00000538132ENST00000260047AHCYchr20

32868074

-ANKRD42chr11

82936820

+
5CDS-intronENST00000538132ENST00000393389AHCYchr20

32868074

-ANKRD42chr11

82936820

+
5CDS-intronENST00000538132ENST00000393392AHCYchr20

32868074

-ANKRD42chr11

82936820

+
5CDS-intronENST00000538132ENST00000526731AHCYchr20

32868074

-ANKRD42chr11

82936820

+
5CDS-intronENST00000538132ENST00000528190AHCYchr20

32868074

-ANKRD42chr11

82936820

+
5CDS-intronENST00000538132ENST00000528722AHCYchr20

32868074

-ANKRD42chr11

82936820

+
5CDS-intronENST00000538132ENST00000531895AHCYchr20

32868074

-ANKRD42chr11

82936820

+
5CDS-intronENST00000538132ENST00000533342AHCYchr20

32868074

-ANKRD42chr11

82936820

+
intron-intronENST00000468908ENST00000260047AHCYchr20

32868074

-ANKRD42chr11

82936820

+
intron-intronENST00000468908ENST00000393389AHCYchr20

32868074

-ANKRD42chr11

82936820

+
intron-intronENST00000468908ENST00000393392AHCYchr20

32868074

-ANKRD42chr11

82936820

+
intron-intronENST00000468908ENST00000526731AHCYchr20

32868074

-ANKRD42chr11

82936820

+
intron-intronENST00000468908ENST00000528190AHCYchr20

32868074

-ANKRD42chr11

82936820

+
intron-intronENST00000468908ENST00000528722AHCYchr20

32868074

-ANKRD42chr11

82936820

+
intron-intronENST00000468908ENST00000531895AHCYchr20

32868074

-ANKRD42chr11

82936820

+
intron-intronENST00000468908ENST00000533342AHCYchr20

32868074

-ANKRD42chr11

82936820

+

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 AHCY-ANKRD42


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)


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Fusion Protein Features for AHCY-ANKRD42


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/:32868074/:82936820)
- 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
.ANKRD42

Q8N9B4

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

- 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 AHCY-ANKRD42


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 AHCY-ANKRD42


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 AHCY-ANKRD42


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 AHCY-ANKRD42


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAHCYC3151058S-adenosylhomocysteine hydrolase deficiency13CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneAHCYC4510276Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency10CLINGEN
HgeneAHCYC0002514Amino Acid Metabolism, Inborn Errors1CTD_human
HgeneAHCYC0003129Anoxemia1CTD_human
HgeneAHCYC0003130Anoxia1CTD_human
HgeneAHCYC0019202Hepatolenticular Degeneration1CTD_human
HgeneAHCYC0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneAHCYC0242184Hypoxia1CTD_human
HgeneAHCYC0268621Hepatic methionine adenosyltransferase deficiency1CTD_human
HgeneAHCYC0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgeneAHCYC0700292Hypoxemia1CTD_human
HgeneAHCYC0750905Amino Acid Metabolism, Inherited Disorders1CTD_human
HgeneAHCYC1527352Hepatic Form of Wilson Disease1CTD_human
HgeneAHCYC1847720Hypermethioninemia due to deficiency of glycine N-methyltransferase1CTD_human
HgeneAHCYC3241937Nonalcoholic Steatohepatitis1CTD_human
HgeneAHCYC4048705Hypermethioninemia1CTD_human