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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: 390

FusionGeneSummary for ACIN1_PTPRN2

check button Fusion gene summary
Fusion gene informationFusion gene name: ACIN1_PTPRN2
Fusion gene ID: 390
HgeneTgene
Gene symbol

ACIN1

PTPRN2

Gene ID

22985

5799

Gene nameapoptotic chromatin condensation inducer 1protein tyrosine phosphatase, receptor type N2
SynonymsACINUS|ACN|fSAP152IA-2beta|IAR|ICAAR|PTPRP|R-PTP-N2
Cytomap

14q11.2

7q36.3

Type of geneprotein-codingprotein-coding
Descriptionapoptotic chromatin condensation inducer in the nucleusfunctional spliceosome-associated protein 152receptor-type tyrosine-protein phosphatase N2IAR/receptor-like protein-tyrosine phosphataseislet cell autoantigen-related proteinphogrinprotein tyrosine phosphatase receptor piprotein tyrosine phosphatase, receptor type, N polypeptide 2tyrosine phos
Modification date2018052220180519
UniProtAcc

Q9UKV3

Q92932

Ensembl transtripts involved in fusion geneENST00000557515, ENST00000338631, 
ENST00000357481, ENST00000605057, 
ENST00000457657, ENST00000262710, 
ENST00000397341, ENST00000555053, 
ENST00000555352, 
ENST00000389413, 
ENST00000409483, ENST00000389416, 
ENST00000389418, ENST00000404321, 
Fusion gene scores* DoF score6 X 6 X 2=7213 X 14 X 9=1638
# samples 617
** MAII scorelog2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/1638*10)=-3.26832870550331
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACIN1 [Title/Abstract] AND PTPRN2 [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
HgeneACIN1

GO:0030263

apoptotic chromosome condensation

10490026


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
ChiTaRS3.1BF363006ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
* 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
intron-intronENST00000557515ENST00000389413ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000557515ENST00000409483ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000557515ENST00000389416ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000557515ENST00000389418ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000557515ENST00000404321ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000338631ENST00000389413ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000338631ENST00000409483ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000338631ENST00000389416ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000338631ENST00000389418ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000338631ENST00000404321ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000357481ENST00000389413ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000357481ENST00000409483ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000357481ENST00000389416ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000357481ENST00000389418ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000357481ENST00000404321ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000605057ENST00000389413ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000605057ENST00000409483ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000605057ENST00000389416ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000605057ENST00000389418ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000605057ENST00000404321ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000457657ENST00000389413ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000457657ENST00000409483ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000457657ENST00000389416ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000457657ENST00000389418ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000457657ENST00000404321ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000262710ENST00000389413ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000262710ENST00000409483ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000262710ENST00000389416ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000262710ENST00000389418ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000262710ENST00000404321ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000397341ENST00000389413ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000397341ENST00000409483ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000397341ENST00000389416ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000397341ENST00000389418ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000397341ENST00000404321ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000555053ENST00000389413ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000555053ENST00000409483ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000555053ENST00000389416ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000555053ENST00000389418ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000555053ENST00000404321ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000555352ENST00000389413ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000555352ENST00000409483ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000555352ENST00000389416ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000555352ENST00000389418ACIN1chr14

23545765

-PTPRN2chr7

157625299

-
intron-intronENST00000555352ENST00000404321ACIN1chr14

23545765

-PTPRN2chr7

157625299

-

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FusionProtFeatures for ACIN1_PTPRN2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACIN1

Q9UKV3

PTPRN2

Q92932

Auxiliary component of the splicing-dependentmultiprotein exon junction complex (EJC) deposited at splicejunction on mRNAs. The EJC is a dynamic structure consisting ofcore proteins and several peripheral nuclear and cytoplasmicassociated factors that join the complex only transiently eitherduring EJC assembly or during subsequent mRNA metabolism.Component of the ASAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJCprior to or during the splicing process and to regulate specificexcision of introns in specific transcription subsets; ACIN1confers RNA-binding to the complex. The ASAP complex can inhibitRNA processing during in vitro splicing reactions. The ASAPcomplex promotes apoptosis and is disassembled after induction ofapoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X(and probably other apoptotic genes); specifically inhibitsformation of proapoptotic isoforms such as Bcl-X(S); the activityis different from the established EJC assembly and function.Induces apoptotic chromatin condensation after activation byCASP3. Regulates cyclin A1, but not cyclin A2, expression inleukemia cells. {ECO:0000269|PubMed:10490026,ECO:0000269|PubMed:12665594, ECO:0000269|PubMed:18559500,ECO:0000269|PubMed:22203037, ECO:0000269|PubMed:22388736}. Plays a role in vesicle-mediated secretory processes.Required for normal accumulation of secretory vesicles inhippocampus, pituitary and pancreatic islets. Required for theaccumulation of normal levels of insulin-containing vesicles andpreventing their degradation. Plays a role in insulin secretion inresponse to glucose stimuli. Required for normal accumulation ofthe neurotransmitters norepinephrine, dopamine and serotonin inthe brain. In females, but not in males, required for normalaccumulation and secretion of pituitary hormones, such asluteinizing hormone (LH) and follicle-stimulating hormone (FSH)(By similarity). Required to maintain normal levels of reninexpression and renin release (By similarity). May regulatecatalytic active protein-tyrosine phosphatases such as PTPRAthrough dimerization (By similarity). Has phosphatidylinositolphosphatase activity; the PIPase activity is involved in itsability to regulate insulin secretion. Can dephosphorylatephosphatidylinositol 4,5-biphosphate (PI(4,5)P2),phosphatidylinositol 5-phosphate and phosphatidylinositol 3-phosphate (By similarity). Regulates PI(4,5)P2 level in the plasmamembrane and localization of cofilin at the plasma membrane andthus is indirectly involved in regulation of actin dynamicsrelated to cell migration and metastasis; upon hydrolyzation ofPI(4,5)P2 cofilin is released from the plasma membrane and acts inthe cytoplasm in severing F-actin filaments (PubMed:26620550).{ECO:0000250|UniProtKB:P80560, ECO:0000250|UniProtKB:Q63475,ECO:0000269|PubMed:26620550}.

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 ACIN1_PTPRN2


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 ACIN1_PTPRN2


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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RelatedDrugs for ACIN1_PTPRN2


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 ACIN1_PTPRN2


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