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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 29268

FusionGeneSummary for PTBP2_AUTS2

check button Fusion gene summary
Fusion gene informationFusion gene name: PTBP2_AUTS2
Fusion gene ID: 29268
HgeneTgene
Gene symbol

PTBP2

AUTS2

Gene ID

58155

26053

Gene namepolypyrimidine tract binding protein 2AUTS2, activator of transcription and developmental regulator
SynonymsPTBLP|brPTB|nPTBFBRSL2|MRD26
Cytomap

1p21.3

7q11.22

Type of geneprotein-codingprotein-coding
Descriptionpolypyrimidine tract-binding protein 2PTB-like proteinneural polypyrimidine tract binding proteinneurally-enriched homolog of PTBautism susceptibility gene 2 proteinautism susceptibility candidate 2autism-related protein 1
Modification date2018051920180519
UniProtAcc

Q9UKA9

Q8WXX7

Ensembl transtripts involved in fusion geneENST00000482253, ENST00000609116, 
ENST00000370197, ENST00000370198, 
ENST00000426398, ENST00000394184, 
ENST00000541987, 
ENST00000406775, 
ENST00000342771, ENST00000403018, 
ENST00000489774, 
Fusion gene scores* DoF score4 X 3 X 2=2418 X 16 X 6=1728
# samples 420
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(20/1728*10)=-3.11103131238874
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PTBP2 [Title/Abstract] AND AUTS2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgenePTBP2

GO:0033119

negative regulation of RNA splicing

18335065

TgeneAUTS2

GO:0045944

positive regulation of transcription by RNA polymerase II

25519132

TgeneAUTS2

GO:0051571

positive regulation of histone H3-K4 methylation

25519132

TgeneAUTS2

GO:2000620

positive regulation of histone H4-K16 acetylation

25519132


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1DA721803PTBP2chr1

97189150

+AUTS2chr7

70240341

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3CDSENST00000482253ENST00000406775PTBP2chr1

97189150

+AUTS2chr7

70240341

+
3UTR-3CDSENST00000482253ENST00000342771PTBP2chr1

97189150

+AUTS2chr7

70240341

+
3UTR-intronENST00000482253ENST00000403018PTBP2chr1

97189150

+AUTS2chr7

70240341

+
3UTR-intronENST00000482253ENST00000489774PTBP2chr1

97189150

+AUTS2chr7

70240341

+
In-frameENST00000609116ENST00000406775PTBP2chr1

97189150

+AUTS2chr7

70240341

+
In-frameENST00000609116ENST00000342771PTBP2chr1

97189150

+AUTS2chr7

70240341

+
5CDS-intronENST00000609116ENST00000403018PTBP2chr1

97189150

+AUTS2chr7

70240341

+
5CDS-intronENST00000609116ENST00000489774PTBP2chr1

97189150

+AUTS2chr7

70240341

+
In-frameENST00000370197ENST00000406775PTBP2chr1

97189150

+AUTS2chr7

70240341

+
In-frameENST00000370197ENST00000342771PTBP2chr1

97189150

+AUTS2chr7

70240341

+
5CDS-intronENST00000370197ENST00000403018PTBP2chr1

97189150

+AUTS2chr7

70240341

+
5CDS-intronENST00000370197ENST00000489774PTBP2chr1

97189150

+AUTS2chr7

70240341

+
In-frameENST00000370198ENST00000406775PTBP2chr1

97189150

+AUTS2chr7

70240341

+
In-frameENST00000370198ENST00000342771PTBP2chr1

97189150

+AUTS2chr7

70240341

+
5CDS-intronENST00000370198ENST00000403018PTBP2chr1

97189150

+AUTS2chr7

70240341

+
5CDS-intronENST00000370198ENST00000489774PTBP2chr1

97189150

+AUTS2chr7

70240341

+
In-frameENST00000426398ENST00000406775PTBP2chr1

97189150

+AUTS2chr7

70240341

+
In-frameENST00000426398ENST00000342771PTBP2chr1

97189150

+AUTS2chr7

70240341

+
5CDS-intronENST00000426398ENST00000403018PTBP2chr1

97189150

+AUTS2chr7

70240341

+
5CDS-intronENST00000426398ENST00000489774PTBP2chr1

97189150

+AUTS2chr7

70240341

+
5UTR-3CDSENST00000394184ENST00000406775PTBP2chr1

97189150

+AUTS2chr7

70240341

+
5UTR-3CDSENST00000394184ENST00000342771PTBP2chr1

97189150

+AUTS2chr7

70240341

+
5UTR-intronENST00000394184ENST00000403018PTBP2chr1

97189150

+AUTS2chr7

70240341

+
5UTR-intronENST00000394184ENST00000489774PTBP2chr1

97189150

+AUTS2chr7

70240341

+
5UTR-3CDSENST00000541987ENST00000406775PTBP2chr1

97189150

+AUTS2chr7

70240341

+
5UTR-3CDSENST00000541987ENST00000342771PTBP2chr1

97189150

+AUTS2chr7

70240341

+
5UTR-intronENST00000541987ENST00000403018PTBP2chr1

97189150

+AUTS2chr7

70240341

+
5UTR-intronENST00000541987ENST00000489774PTBP2chr1

97189150

+AUTS2chr7

70240341

+

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FusionProtFeatures for PTBP2_AUTS2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PTBP2

Q9UKA9

AUTS2

Q8WXX7

RNA-binding protein which binds to intronicpolypyrimidine tracts and mediates negative regulation of exonssplicing. May antagonize in a tissue-specific manner the abilityof NOVA1 to activate exon selection. In addition to its functionin pre-mRNA splicing, plays also a role in the regulation oftranslation. Isoform 5 has a reduced affinity for RNA.{ECO:0000269|PubMed:11003644, ECO:0000269|PubMed:12667457}. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain thetranscriptionally repressive state of many genes, including Hoxgenes, throughout development. PcG PRC1 complex acts via chromatinremodeling and modification of histones; it mediatesmonoubiquitination of histone H2A 'Lys-119', rendering chromatinheritably changed in its expressibility (PubMed:25519132). ThePRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP andAUTS2 has decreased histone H2A ubiquitination activity, due tothe phosphorylation of RNF2 by CSNK2B (PubMed:25519132). As aconsequence, the complex mediates transcriptional activation(PubMed:25519132). In the cytoplasm, plays a role in axon anddendrite elongation and in neuronal migration during embryonicbrain development. Promotes reorganization of the actincytoskeleton, lamellipodia formation and neurite elongation viaits interaction with RAC guanine nucleotide exchange factors,which then leads to the activation of RAC1 (By similarity).{ECO:0000250|UniProtKB:A0A087WPF7, ECO:0000269|PubMed:25519132}.

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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FusionGeneSequence for PTBP2_AUTS2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for PTBP2_AUTS2


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
PTBP2RBM10, CALCOCO2, FUS, KHSRP, ELAVL1, PCBP3, QKI, UBE2E2, SNRPA, PUF60, HNRNPC, HNRNPAB, RBM4, MATR3, HNRNPD, KHDRBS3, KHDRBS1, TOM1, EIF5A2, PTBP2, GOLGA2, CDC5LAUTS2PCGF3, PCGF5, RNF2, CSNK2A2, RYBP, RING1, YAF2, CSNK2A1, CSNK2B, DCAF7, FBRS, EP300, RERE, RBM14, ZNF608, ZNF609, TLE3, WDR5, PCGF6, ATN1


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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RelatedDrugs for PTBP2_AUTS2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PTBP2_AUTS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAUTS2C0036341Schizophrenia2PSYGENET
TgeneAUTS2C0014544Epilepsy1CTD_human