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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:CRELD1-FANCD2OS (FusionGDB2 ID:19414)

Fusion Gene Summary for CRELD1-FANCD2OS

check button Fusion gene summary
Fusion gene informationFusion gene name: CRELD1-FANCD2OS
Fusion gene ID: 19414
HgeneTgene
Gene symbol

CRELD1

FANCD2OS

Gene ID

78987

115795

Gene namecysteine rich with EGF like domains 1FANCD2 opposite strand
SynonymsAVSD2|CIRRINC3orf24
Cytomap

3p25.3

3p25.3

Type of geneprotein-codingprotein-coding
Descriptionprotein disulfide isomerase CRELD1FANCD2 opposite strand proteinFanconi anemia group D2 protein opposite strand transcript protein
Modification date2020031320200313
UniProtAcc

Q96HD1

Q96PS1

Ensembl transtripts involved in fusion geneENST00000326434, ENST00000383811, 
ENST00000397170, ENST00000452070, 
ENST00000489674, 
ENST00000524279, 
ENST00000436517, ENST00000450660, 
Fusion gene scores* DoF score3 X 4 X 3=361 X 1 X 1=1
# samples 42
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/1*10)=4.32192809488736
Context

PubMed: CRELD1 [Title/Abstract] AND FANCD2OS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCRELD1(9979790)-FANCD2OS(10123215), # samples:2
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 CRELD1 (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 FANCD2OS (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
ChimerDB4TGCTTCGA-SN-A6IS-01ACRELD1chr3

9979790

+FANCD2OSchr3

10123215

-
ChimerDB4TGCTTCGA-SN-A6ISCRELD1chr3

9976601

+FANCD2OSchr3

10123215

-
ChimerDB4TGCTTCGA-SN-A6ISCRELD1chr3

9979790

+FANCD2OSchr3

10123215

-


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Fusion Gene ORF analysis for CRELD1-FANCD2OS

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-3UTRENST00000326434ENST00000524279CRELD1chr3

9979790

+FANCD2OSchr3

10123215

-
5CDS-3UTRENST00000326434ENST00000524279CRELD1chr3

9976601

+FANCD2OSchr3

10123215

-
5CDS-3UTRENST00000383811ENST00000524279CRELD1chr3

9979790

+FANCD2OSchr3

10123215

-
5CDS-3UTRENST00000383811ENST00000524279CRELD1chr3

9976601

+FANCD2OSchr3

10123215

-
5CDS-3UTRENST00000397170ENST00000524279CRELD1chr3

9979790

+FANCD2OSchr3

10123215

-
5CDS-3UTRENST00000397170ENST00000524279CRELD1chr3

9976601

+FANCD2OSchr3

10123215

-
5CDS-3UTRENST00000452070ENST00000524279CRELD1chr3

9979790

+FANCD2OSchr3

10123215

-
5CDS-3UTRENST00000452070ENST00000524279CRELD1chr3

9976601

+FANCD2OSchr3

10123215

-
5CDS-5UTRENST00000326434ENST00000436517CRELD1chr3

9979790

+FANCD2OSchr3

10123215

-
5CDS-5UTRENST00000326434ENST00000436517CRELD1chr3

9976601

+FANCD2OSchr3

10123215

-
5CDS-5UTRENST00000383811ENST00000436517CRELD1chr3

9979790

+FANCD2OSchr3

10123215

-
5CDS-5UTRENST00000383811ENST00000436517CRELD1chr3

9976601

+FANCD2OSchr3

10123215

-
5CDS-5UTRENST00000397170ENST00000436517CRELD1chr3

9979790

+FANCD2OSchr3

10123215

-
5CDS-5UTRENST00000397170ENST00000436517CRELD1chr3

9976601

+FANCD2OSchr3

10123215

-
5CDS-5UTRENST00000452070ENST00000436517CRELD1chr3

9979790

+FANCD2OSchr3

10123215

-
5CDS-5UTRENST00000452070ENST00000436517CRELD1chr3

9976601

+FANCD2OSchr3

10123215

-
5CDS-intronENST00000326434ENST00000450660CRELD1chr3

9979790

+FANCD2OSchr3

10123215

-
5CDS-intronENST00000326434ENST00000450660CRELD1chr3

9976601

+FANCD2OSchr3

10123215

-
5CDS-intronENST00000383811ENST00000450660CRELD1chr3

9979790

+FANCD2OSchr3

10123215

-
5CDS-intronENST00000383811ENST00000450660CRELD1chr3

9976601

+FANCD2OSchr3

10123215

-
5CDS-intronENST00000397170ENST00000450660CRELD1chr3

9979790

+FANCD2OSchr3

10123215

-
5CDS-intronENST00000397170ENST00000450660CRELD1chr3

9976601

+FANCD2OSchr3

10123215

-
5CDS-intronENST00000452070ENST00000450660CRELD1chr3

9979790

+FANCD2OSchr3

10123215

-
5CDS-intronENST00000452070ENST00000450660CRELD1chr3

9976601

+FANCD2OSchr3

10123215

-
intron-3UTRENST00000489674ENST00000524279CRELD1chr3

9979790

+FANCD2OSchr3

10123215

-
intron-3UTRENST00000489674ENST00000524279CRELD1chr3

9976601

+FANCD2OSchr3

10123215

-
intron-5UTRENST00000489674ENST00000436517CRELD1chr3

9979790

+FANCD2OSchr3

10123215

-
intron-5UTRENST00000489674ENST00000436517CRELD1chr3

9976601

+FANCD2OSchr3

10123215

-
intron-intronENST00000489674ENST00000450660CRELD1chr3

9979790

+FANCD2OSchr3

10123215

-
intron-intronENST00000489674ENST00000450660CRELD1chr3

9976601

+FANCD2OSchr3

10123215

-

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 CRELD1-FANCD2OS


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 CRELD1-FANCD2OS


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/:9979790/:10123215)
- 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
CRELD1

Q96HD1

FANCD2OS

Q96PS1

FUNCTION: Protein disulfide isomerase (By similarity). Promotes the localization of acetylcholine receptors (AChRs) to the plasma membrane (By similarity). {ECO:0000250|UniProtKB:Q91XD7, ECO:0000250|UniProtKB:Q9CYA0}.

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 CRELD1-FANCD2OS


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 CRELD1-FANCD2OS


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 CRELD1-FANCD2OS


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 CRELD1-FANCD2OS


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