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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:ANKS1B-PTPRQ (FusionGDB2 ID:HG56899TG374462)

Fusion Gene Summary for ANKS1B-PTPRQ

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKS1B-PTPRQ
Fusion gene ID: hg56899tg374462
HgeneTgene
Gene symbol

ANKS1B

PTPRQ

Gene ID

56899

374462

Gene nameankyrin repeat and sterile alpha motif domain containing 1Bprotein tyrosine phosphatase receptor type Q
SynonymsAIDA|AIDA-1|ANKS2|EB-1|EB1|cajalin-2DFNA73|DFNB84|DFNB84A|PTPGMC1|R-PTP-Q
Cytomap('ANKS1B')('PTPRQ')

12q23.1

12q21.31

Type of geneprotein-codingprotein-coding
Descriptionankyrin repeat and sterile alpha motif domain-containing protein 1BE2a-Pbx1-associated proteinamyloid-beta precursor protein intracellular domain associated protein 1cajalin 2phosphatidylinositol phosphatase PTPRQphosphotidylinositol phosphatase PTPRQprotein-tyrosine phosphatase, receptor-type, expressed by glomerular mesangial cells
Modification date2020031320200313
UniProtAcc

Q7Z6G8

.
Ensembl transtripts involved in fusion geneENST00000329257, ENST00000547776, 
ENST00000547010, ENST00000332712, 
ENST00000333732, ENST00000341752, 
ENST00000546568, ENST00000546960, 
ENST00000547446, ENST00000549025, 
ENST00000549493, ENST00000549558, 
ENST00000550693, ENST00000550833, 
Fusion gene scores* DoF score19 X 19 X 6=21667 X 6 X 3=126
# samples 216
** MAII scorelog2(21/2166*10)=-3.3665720099422
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/126*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANKS1B [Title/Abstract] AND PTPRQ [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANKS1B(100377882)-PTPRQ(80981908), # samples:1
Anticipated loss of major functional domain due to fusion event.ANKS1B-PTPRQ seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ANKS1B-PTPRQ 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
TgenePTPRQ

GO:0045598

regulation of fat cell differentiation

19351528



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
ChimerDB4MESOTCGA-UD-AAC4-01AANKS1Bchr12

100377882

-PTPRQchr12

80981908

+


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Fusion Gene ORF analysis for ANKS1B-PTPRQ

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-intronENST00000329257ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
5CDS-intronENST00000547776ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
5UTR-3CDSENST00000547010ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
5UTR-intronENST00000547010ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
Frame-shiftENST00000329257ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
Frame-shiftENST00000547776ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000332712ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000333732ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000341752ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000546568ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000546960ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000547446ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000549025ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000549493ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000549558ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000550693ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000550833ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000332712ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000333732ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000341752ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000546568ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000546960ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000547446ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000549025ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000549493ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000549558ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000550693ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000550833ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+

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 ANKS1B-PTPRQ


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)
ANKS1Bchr12100377881-PTPRQchr1280981907+0.0050981870.9949018
ANKS1Bchr12100377881-PTPRQchr1280981907+0.0050981870.9949018


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 ANKS1B-PTPRQ


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/:100377882/:80981908)
- 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
ANKS1B

Q7Z6G8

.
FUNCTION: Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells.; FUNCTION: Isoform 3 can regulate global protein synthesis by altering nucleolar numbers. {ECO:0000250, ECO:0000269|PubMed:15347684, ECO:0000269|PubMed:15862129}.; FUNCTION: Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP processing.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 ANKS1B-PTPRQ


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 ANKS1B-PTPRQ


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 ANKS1B-PTPRQ


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 ANKS1B-PTPRQ


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneANKS1BC0019202Hepatolenticular Degeneration1CTD_human
HgeneANKS1BC1527352Hepatic Form of Wilson Disease1CTD_human
TgeneC1846647DEAFNESS, AUTOSOMAL RECESSIVE (disorder)8CLINGEN
TgeneC3150654DEAFNESS, AUTOSOMAL RECESSIVE 84A2CTD_human;GENOMICS_ENGLAND;UNIPROT