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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:ANKHD1-GLS (FusionGDB2 ID:HG54882TG2744)

Fusion Gene Summary for ANKHD1-GLS

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKHD1-GLS
Fusion gene ID: hg54882tg2744
HgeneTgene
Gene symbol

ANKHD1

GLS

Gene ID

54882

2744

Gene nameankyrin repeat and KH domain containing 1glutaminase
SynonymsMASK|MASK1|PP2500|VBARPAAD20|CASGID|EIEE71|GAC|GAM|GDPAG|GLS1|KGA
Cytomap('ANKHD1')('GLS')

5q31.3

2q32.2

Type of geneprotein-codingprotein-coding
Descriptionankyrin repeat and KH domain-containing protein 1HIV-1 Vpr-binding ankyrin repeat proteinmultiple ankyrin repeats, single KH-domain homologglutaminase kidney isoform, mitochondrialK-glutaminaseL-glutamine amidohydrolaseglutaminase Cglutaminase, phosphate-activated
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000297183, ENST00000360839, 
ENST00000394722, ENST00000394723, 
ENST00000462121, ENST00000544120, 
Fusion gene scores* DoF score29 X 9 X 8=208812 X 9 X 5=540
# samples 1412
** MAII scorelog2(14/2088*10)=-3.89862297962492
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/540*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANKHD1 [Title/Abstract] AND GLS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANKHD1(139815842)-GLS(191765289), # samples:1
Anticipated loss of major functional domain due to fusion event.ANKHD1-GLS seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ANKHD1-GLS seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ANKHD1-GLS seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
TgeneGLS

GO:0006537

glutamate biosynthetic process

16899818|22049910

TgeneGLS

GO:0006543

glutamine catabolic process

22049910

TgeneGLS

GO:0051289

protein homotetramerization

22049910



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
ChimerDB4ESCATCGA-R6-A6Y2ANKHD1chr5

139815842

+GLSchr2

191765289

+


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Fusion Gene ORF analysis for ANKHD1-GLS

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-intronENST00000297183ENST00000409215ANKHD1chr5

139815842

+GLSchr2

191765289

+
5CDS-intronENST00000297183ENST00000409428ANKHD1chr5

139815842

+GLSchr2

191765289

+
5CDS-intronENST00000297183ENST00000409626ANKHD1chr5

139815842

+GLSchr2

191765289

+
5CDS-intronENST00000297183ENST00000471443ANKHD1chr5

139815842

+GLSchr2

191765289

+
5CDS-intronENST00000360839ENST00000409215ANKHD1chr5

139815842

+GLSchr2

191765289

+
5CDS-intronENST00000360839ENST00000409428ANKHD1chr5

139815842

+GLSchr2

191765289

+
5CDS-intronENST00000360839ENST00000409626ANKHD1chr5

139815842

+GLSchr2

191765289

+
5CDS-intronENST00000360839ENST00000471443ANKHD1chr5

139815842

+GLSchr2

191765289

+
5CDS-intronENST00000394722ENST00000409215ANKHD1chr5

139815842

+GLSchr2

191765289

+
5CDS-intronENST00000394722ENST00000409428ANKHD1chr5

139815842

+GLSchr2

191765289

+
5CDS-intronENST00000394722ENST00000409626ANKHD1chr5

139815842

+GLSchr2

191765289

+
5CDS-intronENST00000394722ENST00000471443ANKHD1chr5

139815842

+GLSchr2

191765289

+
5CDS-intronENST00000394723ENST00000409215ANKHD1chr5

139815842

+GLSchr2

191765289

+
5CDS-intronENST00000394723ENST00000409428ANKHD1chr5

139815842

+GLSchr2

191765289

+
5CDS-intronENST00000394723ENST00000409626ANKHD1chr5

139815842

+GLSchr2

191765289

+
5CDS-intronENST00000394723ENST00000471443ANKHD1chr5

139815842

+GLSchr2

191765289

+
Frame-shiftENST00000297183ENST00000320717ANKHD1chr5

139815842

+GLSchr2

191765289

+
Frame-shiftENST00000297183ENST00000338435ANKHD1chr5

139815842

+GLSchr2

191765289

+
Frame-shiftENST00000360839ENST00000320717ANKHD1chr5

139815842

+GLSchr2

191765289

+
Frame-shiftENST00000360839ENST00000338435ANKHD1chr5

139815842

+GLSchr2

191765289

+
Frame-shiftENST00000394722ENST00000320717ANKHD1chr5

139815842

+GLSchr2

191765289

+
Frame-shiftENST00000394722ENST00000338435ANKHD1chr5

139815842

+GLSchr2

191765289

+
Frame-shiftENST00000394723ENST00000320717ANKHD1chr5

139815842

+GLSchr2

191765289

+
Frame-shiftENST00000394723ENST00000338435ANKHD1chr5

139815842

+GLSchr2

191765289

+
intron-3CDSENST00000462121ENST00000320717ANKHD1chr5

139815842

+GLSchr2

191765289

+
intron-3CDSENST00000462121ENST00000338435ANKHD1chr5

139815842

+GLSchr2

191765289

+
intron-3CDSENST00000544120ENST00000320717ANKHD1chr5

139815842

+GLSchr2

191765289

+
intron-3CDSENST00000544120ENST00000338435ANKHD1chr5

139815842

+GLSchr2

191765289

+
intron-intronENST00000462121ENST00000409215ANKHD1chr5

139815842

+GLSchr2

191765289

+
intron-intronENST00000462121ENST00000409428ANKHD1chr5

139815842

+GLSchr2

191765289

+
intron-intronENST00000462121ENST00000409626ANKHD1chr5

139815842

+GLSchr2

191765289

+
intron-intronENST00000462121ENST00000471443ANKHD1chr5

139815842

+GLSchr2

191765289

+
intron-intronENST00000544120ENST00000409215ANKHD1chr5

139815842

+GLSchr2

191765289

+
intron-intronENST00000544120ENST00000409428ANKHD1chr5

139815842

+GLSchr2

191765289

+
intron-intronENST00000544120ENST00000409626ANKHD1chr5

139815842

+GLSchr2

191765289

+
intron-intronENST00000544120ENST00000471443ANKHD1chr5

139815842

+GLSchr2

191765289

+

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 ANKHD1-GLS


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)
ANKHD1chr5139815842+GLSchr2191765289+1.02E-050.99998975
ANKHD1chr5139815842+GLSchr2191765289+1.02E-050.99998975


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 ANKHD1-GLS


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/:139815842/:191765289)
- 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

- 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 ANKHD1-GLS


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 ANKHD1-GLS


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 ANKHD1-GLS


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 ANKHD1-GLS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0000786Spontaneous abortion1CTD_human
TgeneC0000822Abortion, Tubal1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0029408Degenerative polyarthritis1CTD_human
TgeneC0086743Osteoarthrosis Deformans1CTD_human
TgeneC3830362Early Pregnancy Loss1CTD_human
TgeneC4552766Miscarriage1CTD_human