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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:PC-CSDE1 (FusionGDB2 ID:62657)

Fusion Gene Summary for PC-CSDE1

check button Fusion gene summary
Fusion gene informationFusion gene name: PC-CSDE1
Fusion gene ID: 62657
HgeneTgene
Gene symbol

PC

CSDE1

Gene ID

5624

7812

Gene nameprotein C, inactivator of coagulation factors Va and VIIIacold shock domain containing E1
SynonymsAPC|PC|PROC1|THPH3|THPH4D1S155E|UNR
Cytomap

2q14.3

1p13.2

Type of geneprotein-codingprotein-coding
Descriptionvitamin K-dependent protein CProtein C-Nagoyaactivated protein Canticoagulant protein Cautoprothrombin IIAblood coagulation factor XIVprepro-protein Ctype I protein Ccold shock domain-containing protein E1N-ras upstream gene proteinNRAS-relatedcold shock domain containing E1, RNA bindingupstream of NRAS
Modification date2020031320200313
UniProtAcc.

O75534

Ensembl transtripts involved in fusion geneENST00000393958, ENST00000393960, 
ENST00000355677, ENST00000524491, 
ENST00000529047, ENST00000393955, 
ENST00000528224, 		ENST00000339438, 
ENST00000438362, ENST00000358528, 
ENST00000261443, ENST00000530886, 
ENST00000369530, ENST00000483407, 
ENST00000534699, 
Fusion gene scores* DoF score19 X 8 X 8=121618 X 14 X 7=1764
# samples 1819
** MAII scorelog2(18/1216*10)=-2.75607441711391
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(19/1764*10)=-3.21477923722657
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PC [Title/Abstract] AND CSDE1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPC(66616353)-CSDE1(115269670), # 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 buttonFusion gene breakpoints across PC (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 CSDE1 (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
ChimerDB4Non-CancerERR315342PCchr11

66616353

-CSDE1chr1

115269670

-


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Fusion Gene ORF analysis for PC-CSDE1

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-3CDSENST00000393958ENST00000339438PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000393958ENST00000438362PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000393958ENST00000358528PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000393958ENST00000261443PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000393958ENST00000530886PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000393958ENST00000369530PCchr11

66616353

-CSDE1chr1

115269670

-
intron-intronENST00000393958ENST00000483407PCchr11

66616353

-CSDE1chr1

115269670

-
intron-intronENST00000393958ENST00000534699PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000393960ENST00000339438PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000393960ENST00000438362PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000393960ENST00000358528PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000393960ENST00000261443PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000393960ENST00000530886PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000393960ENST00000369530PCchr11

66616353

-CSDE1chr1

115269670

-
intron-intronENST00000393960ENST00000483407PCchr11

66616353

-CSDE1chr1

115269670

-
intron-intronENST00000393960ENST00000534699PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000355677ENST00000339438PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000355677ENST00000438362PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000355677ENST00000358528PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000355677ENST00000261443PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000355677ENST00000530886PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000355677ENST00000369530PCchr11

66616353

-CSDE1chr1

115269670

-
intron-intronENST00000355677ENST00000483407PCchr11

66616353

-CSDE1chr1

115269670

-
intron-intronENST00000355677ENST00000534699PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000524491ENST00000339438PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000524491ENST00000438362PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000524491ENST00000358528PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000524491ENST00000261443PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000524491ENST00000530886PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000524491ENST00000369530PCchr11

66616353

-CSDE1chr1

115269670

-
intron-intronENST00000524491ENST00000483407PCchr11

66616353

-CSDE1chr1

115269670

-
intron-intronENST00000524491ENST00000534699PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000529047ENST00000339438PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000529047ENST00000438362PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000529047ENST00000358528PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000529047ENST00000261443PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000529047ENST00000530886PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000529047ENST00000369530PCchr11

66616353

-CSDE1chr1

115269670

-
intron-intronENST00000529047ENST00000483407PCchr11

66616353

-CSDE1chr1

115269670

-
intron-intronENST00000529047ENST00000534699PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000393955ENST00000339438PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000393955ENST00000438362PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000393955ENST00000358528PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000393955ENST00000261443PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000393955ENST00000530886PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000393955ENST00000369530PCchr11

66616353

-CSDE1chr1

115269670

-
intron-intronENST00000393955ENST00000483407PCchr11

66616353

-CSDE1chr1

115269670

-
intron-intronENST00000393955ENST00000534699PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000528224ENST00000339438PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000528224ENST00000438362PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000528224ENST00000358528PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000528224ENST00000261443PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000528224ENST00000530886PCchr11

66616353

-CSDE1chr1

115269670

-
intron-3CDSENST00000528224ENST00000369530PCchr11

66616353

-CSDE1chr1

115269670

-
intron-intronENST00000528224ENST00000483407PCchr11

66616353

-CSDE1chr1

115269670

-
intron-intronENST00000528224ENST00000534699PCchr11

66616353

-CSDE1chr1

115269670

-

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 PC-CSDE1


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 PC-CSDE1


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
.CSDE1

O75534

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: RNA-binding protein involved in translationally coupled mRNA turnover (PubMed:11051545, PubMed:15314026). Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain (PubMed:11051545, PubMed:15314026). Required for efficient formation of stress granules (PubMed:29395067). {ECO:0000269|PubMed:11051545, ECO:0000269|PubMed:15314026, ECO:0000269|PubMed:29395067}.; FUNCTION: (Microbial infection) Required for internal initiation of translation of human rhinovirus RNA. {ECO:0000269|PubMed:10049359}.

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 PC-CSDE1


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 PC-CSDE1


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 PC-CSDE1


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 PC-CSDE1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePCC0034341Pyruvate Carboxylase Deficiency Disease2CTD_human;GENOMICS_ENGLAND
HgenePCC0005586Bipolar Disorder1CTD_human
HgenePCC0005587Depression, Bipolar1CTD_human
HgenePCC0006413Burkitt Lymphoma1CTD_human
HgenePCC0019193Hepatitis, Toxic1CTD_human
HgenePCC0023893Liver Cirrhosis, Experimental1CTD_human
HgenePCC0024713Manic Disorder1CTD_human
HgenePCC0338831Manic1CTD_human
HgenePCC0343640African Burkitt's lymphoma1CTD_human
HgenePCC0860207Drug-Induced Liver Disease1CTD_human
HgenePCC1262760Hepatitis, Drug-Induced1CTD_human
HgenePCC3658290Drug-Induced Acute Liver Injury1CTD_human
HgenePCC4277682Chemical and Drug Induced Liver Injury1CTD_human
HgenePCC4279912Chemically-Induced Liver Toxicity1CTD_human
HgenePCC4721444Burkitt Leukemia1CTD_human
TgeneCSDE1C0004352Autistic Disorder1GENOMICS_ENGLAND
TgeneCSDE1C0557874Global developmental delay1GENOMICS_ENGLAND
TgeneCSDE1C3714756Intellectual Disability1GENOMICS_ENGLAND