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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:ANKAR-PMS1 (FusionGDB2 ID:HG150709TG5378)

Fusion Gene Summary for ANKAR-PMS1

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKAR-PMS1
Fusion gene ID: hg150709tg5378
HgeneTgene
Gene symbol

ANKAR

PMS1

Gene ID

150709

5378

Gene nameankyrin and armadillo repeat containingPMS1 homolog 1, mismatch repair system component
Synonyms-HNPCC3|MLH2|PMSL1|hPMS1
Cytomap('ANKAR')('PMS1')

2q32.2

2q32.2

Type of geneprotein-codingprotein-coding
Descriptionankyrin and armadillo repeat-containing proteinPMS1 protein homolog 1DNA mismatch repair protein PMS1PMS1 postmeiotic segregation increased 1human homolog of yeast mutLmismatch repair gene PMSL1rhabdomyosarcoma antigen MU-RMS-40.10Brhabdomyosarcoma antigen MU-RMS-40.10E
Modification date2020031320200327
UniProtAcc

Q7Z5J8

.
Ensembl transtripts involved in fusion geneENST00000461516, ENST00000281412, 
ENST00000313581, ENST00000431575, 
ENST00000438402, ENST00000520309, 
Fusion gene scores* DoF score5 X 2 X 5=5011 X 6 X 7=462
# samples 511
** MAII scorelog2(5/50*10)=0log2(11/462*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANKAR [Title/Abstract] AND PMS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANKAR(190539556)-PMS1(190728469), # 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
* 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
ChimerDB4KIRPTCGA-B3-4104-01AANKARchr2

190539556

+PMS1chr2

190728469

+


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Fusion Gene ORF analysis for ANKAR-PMS1

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
3UTR-3CDSENST00000461516ENST00000409823ANKARchr2

190539556

+PMS1chr2

190728469

+
3UTR-3CDSENST00000461516ENST00000418224ANKARchr2

190539556

+PMS1chr2

190728469

+
3UTR-3CDSENST00000461516ENST00000441310ANKARchr2

190539556

+PMS1chr2

190728469

+
3UTR-3UTRENST00000461516ENST00000421722ANKARchr2

190539556

+PMS1chr2

190728469

+
3UTR-intronENST00000461516ENST00000374826ANKARchr2

190539556

+PMS1chr2

190728469

+
3UTR-intronENST00000461516ENST00000409985ANKARchr2

190539556

+PMS1chr2

190728469

+
3UTR-intronENST00000461516ENST00000432292ANKARchr2

190539556

+PMS1chr2

190728469

+
3UTR-intronENST00000461516ENST00000447232ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3CDSENST00000281412ENST00000409823ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3CDSENST00000281412ENST00000418224ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3CDSENST00000281412ENST00000441310ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3CDSENST00000313581ENST00000409823ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3CDSENST00000313581ENST00000418224ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3CDSENST00000313581ENST00000441310ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3CDSENST00000431575ENST00000409823ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3CDSENST00000431575ENST00000418224ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3CDSENST00000431575ENST00000441310ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3CDSENST00000438402ENST00000409823ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3CDSENST00000438402ENST00000418224ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3CDSENST00000438402ENST00000441310ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3CDSENST00000520309ENST00000409823ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3CDSENST00000520309ENST00000418224ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3CDSENST00000520309ENST00000441310ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3UTRENST00000281412ENST00000421722ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3UTRENST00000313581ENST00000421722ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3UTRENST00000431575ENST00000421722ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3UTRENST00000438402ENST00000421722ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-3UTRENST00000520309ENST00000421722ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000281412ENST00000374826ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000281412ENST00000409985ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000281412ENST00000432292ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000281412ENST00000447232ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000313581ENST00000374826ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000313581ENST00000409985ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000313581ENST00000432292ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000313581ENST00000447232ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000431575ENST00000374826ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000431575ENST00000409985ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000431575ENST00000432292ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000431575ENST00000447232ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000438402ENST00000374826ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000438402ENST00000409985ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000438402ENST00000432292ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000438402ENST00000447232ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000520309ENST00000374826ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000520309ENST00000409985ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000520309ENST00000432292ANKARchr2

190539556

+PMS1chr2

190728469

+
intron-intronENST00000520309ENST00000447232ANKARchr2

190539556

+PMS1chr2

190728469

+

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 ANKAR-PMS1


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)
ANKARchr2190539556+PMS1chr2190728468+0.0019937210.9980063
ANKARchr2190539556+PMS1chr2190728468+0.0019937210.9980063


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 ANKAR-PMS1


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/:190539556/:190728469)
- 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
ANKAR

Q7Z5J8

.
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 ANKAR-PMS1


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 ANKAR-PMS1


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 ANKAR-PMS1


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 ANKAR-PMS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human