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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:PCSK7-NIN (FusionGDB2 ID:63127)

Fusion Gene Summary for PCSK7-NIN

check button Fusion gene summary
Fusion gene informationFusion gene name: PCSK7-NIN
Fusion gene ID: 63127
HgeneTgene
Gene symbol

PCSK7

NIN

Gene ID

9159

51199

Gene nameproprotein convertase subtilisin/kexin type 7ninein
SynonymsLPC|PC7|PC8|SPC7SCKL7
Cytomap

11q23.3

14q22.1

Type of geneprotein-codingprotein-coding
Descriptionproprotein convertase subtilisin/kexin type 7lymphoma proprotein convertaseprohormone convertase 7prohormone convertase PC7proprotein convertase 7proprotein convertase 8proprotein convertase PC7proprotein convertase subtilisin/kexin type 7 precursonineinglycogen synthase kinase 3 beta-interacting proteinhNineinninein (GSK3B interacting protein)ninein centrosomal protein
Modification date2020031320200328
UniProtAcc.

Q9Y2I6

Ensembl transtripts involved in fusion geneENST00000320934, ENST00000540028, 
ENST00000529458, 		ENST00000245441, 
ENST00000389868, ENST00000530997, 
ENST00000382043, ENST00000382041, 
ENST00000324330, ENST00000453196, 
ENST00000486200, 
Fusion gene scores* DoF score8 X 10 X 1=807 X 9 X 4=252
# samples 1010
** MAII scorelog2(10/80*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(10/252*10)=-1.33342373372519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PCSK7 [Title/Abstract] AND NIN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPCSK7(117075401)-NIN(51237151), # 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
HgenePCSK7

GO:0016485

protein processing

15606899


check buttonFusion gene breakpoints across PCSK7 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across NIN (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChiTaRS5.0N/AW49800PCSK7chr11

117075401

-NINchr14

51237151

+


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Fusion Gene ORF analysis for PCSK7-NIN

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-3CDSENST00000320934ENST00000245441PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000320934ENST00000389868PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000320934ENST00000530997PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000320934ENST00000382043PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000320934ENST00000382041PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000320934ENST00000324330PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000320934ENST00000453196PCSK7chr11

117075401

-NINchr14

51237151

+
intron-intronENST00000320934ENST00000486200PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000540028ENST00000245441PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000540028ENST00000389868PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000540028ENST00000530997PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000540028ENST00000382043PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000540028ENST00000382041PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000540028ENST00000324330PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000540028ENST00000453196PCSK7chr11

117075401

-NINchr14

51237151

+
intron-intronENST00000540028ENST00000486200PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000529458ENST00000245441PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000529458ENST00000389868PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000529458ENST00000530997PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000529458ENST00000382043PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000529458ENST00000382041PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000529458ENST00000324330PCSK7chr11

117075401

-NINchr14

51237151

+
intron-3CDSENST00000529458ENST00000453196PCSK7chr11

117075401

-NINchr14

51237151

+
intron-intronENST00000529458ENST00000486200PCSK7chr11

117075401

-NINchr14

51237151

+

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 PCSK7-NIN


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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.

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Fusion Protein Features for PCSK7-NIN


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q9Y2I6

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Involved in the microtubule organization in interphase cells. Overexpression induces the fragmentation of the Golgi, and causes lysosomes to disperse toward the cell periphery; it also interferes with mitotic spindle assembly. May play a role in ovarian carcinogenesis. {ECO:0000269|PubMed:12852856, ECO:0000269|PubMed:16254247, ECO:0000269|PubMed:18538832}.

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 PCSK7-NIN


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 PCSK7-NIN


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 PCSK7-NIN


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 PCSK7-NIN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNINC3553870SECKEL SYNDROME 72GENOMICS_ENGLAND;ORPHANET;UNIPROT