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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:SPEF2-C5orf42 (FusionGDB2 ID:85116)

Fusion Gene Summary for SPEF2-C5orf42

check button Fusion gene summary
Fusion gene informationFusion gene name: SPEF2-C5orf42
Fusion gene ID: 85116
HgeneTgene
Gene symbol

SPEF2

C5orf42

Gene ID

79925

65250

Gene namesperm flagellar 2ciliogenesis and planar polarity effector 1
SynonymsCT122|KPL2|SPGF43C5orf42|Hug|JBTS17|OFD6
Cytomap

5p13.2

5p13.2

Type of geneprotein-codingprotein-coding
Descriptionsperm flagellar protein 2cancer/testis antigen 122testis tissue sperm-binding protein Li 47aciliogenesis and planar polarity effector 1protein JBTS17transmembrane protein ENSP00000382582
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000282469, ENST00000509059, 
ENST00000356031, ENST00000440995, 
ENST00000303129, 		ENST00000508244, 
ENST00000274258, ENST00000425232, 
ENST00000512288, 
Fusion gene scores* DoF score3 X 3 X 3=277 X 8 X 5=280
# samples 37
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(7/280*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPEF2 [Title/Abstract] AND C5orf42 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSPEF2(35659309)-C5orf42(37224842), # samples:3
Anticipated loss of major functional domain due to fusion event.SPEF2-C5orf42 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
* 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 SPEF2 (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 C5orf42 (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
ChimerDB4ACCTCGA-OR-A5JZ-01ASPEF2chr5

35659309

+C5orf42chr5

37224842

-
ChimerDB4ACCTCGA-OR-A5JZ-01ASPEF2chr5

35659309

+C5orf42chr5

37224435

-
ChimerDB4ACCTCGA-OR-A5JZ-01ASPEF2chr5

35659309

+C5orf42chr5

37224842

-
ChimerDB4ACCTCGA-OR-A5JZ-01ASPEF2chr5

35659309

-C5orf42chr5

37224842

-


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Fusion Gene ORF analysis for SPEF2-C5orf42

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
Frame-shiftENST00000282469ENST00000508244SPEF2chr5

35659309

+C5orf42chr5

37224842

-
5CDS-5UTRENST00000282469ENST00000274258SPEF2chr5

35659309

+C5orf42chr5

37224842

-
5CDS-5UTRENST00000282469ENST00000425232SPEF2chr5

35659309

+C5orf42chr5

37224842

-
5CDS-intronENST00000282469ENST00000512288SPEF2chr5

35659309

+C5orf42chr5

37224842

-
Frame-shiftENST00000509059ENST00000508244SPEF2chr5

35659309

+C5orf42chr5

37224842

-
5CDS-5UTRENST00000509059ENST00000274258SPEF2chr5

35659309

+C5orf42chr5

37224842

-
5CDS-5UTRENST00000509059ENST00000425232SPEF2chr5

35659309

+C5orf42chr5

37224842

-
5CDS-intronENST00000509059ENST00000512288SPEF2chr5

35659309

+C5orf42chr5

37224842

-
Frame-shiftENST00000356031ENST00000508244SPEF2chr5

35659309

+C5orf42chr5

37224842

-
5CDS-5UTRENST00000356031ENST00000274258SPEF2chr5

35659309

+C5orf42chr5

37224842

-
5CDS-5UTRENST00000356031ENST00000425232SPEF2chr5

35659309

+C5orf42chr5

37224842

-
5CDS-intronENST00000356031ENST00000512288SPEF2chr5

35659309

+C5orf42chr5

37224842

-
Frame-shiftENST00000440995ENST00000508244SPEF2chr5

35659309

+C5orf42chr5

37224842

-
5CDS-5UTRENST00000440995ENST00000274258SPEF2chr5

35659309

+C5orf42chr5

37224842

-
5CDS-5UTRENST00000440995ENST00000425232SPEF2chr5

35659309

+C5orf42chr5

37224842

-
5CDS-intronENST00000440995ENST00000512288SPEF2chr5

35659309

+C5orf42chr5

37224842

-
intron-3CDSENST00000303129ENST00000508244SPEF2chr5

35659309

+C5orf42chr5

37224842

-
intron-5UTRENST00000303129ENST00000274258SPEF2chr5

35659309

+C5orf42chr5

37224842

-
intron-5UTRENST00000303129ENST00000425232SPEF2chr5

35659309

+C5orf42chr5

37224842

-
intron-intronENST00000303129ENST00000512288SPEF2chr5

35659309

+C5orf42chr5

37224842

-
Frame-shiftENST00000282469ENST00000508244SPEF2chr5

35659309

+C5orf42chr5

37224435

-
5CDS-5UTRENST00000282469ENST00000274258SPEF2chr5

35659309

+C5orf42chr5

37224435

-
5CDS-5UTRENST00000282469ENST00000425232SPEF2chr5

35659309

+C5orf42chr5

37224435

-
5CDS-intronENST00000282469ENST00000512288SPEF2chr5

35659309

+C5orf42chr5

37224435

-
Frame-shiftENST00000509059ENST00000508244SPEF2chr5

35659309

+C5orf42chr5

37224435

-
5CDS-5UTRENST00000509059ENST00000274258SPEF2chr5

35659309

+C5orf42chr5

37224435

-
5CDS-5UTRENST00000509059ENST00000425232SPEF2chr5

35659309

+C5orf42chr5

37224435

-
5CDS-intronENST00000509059ENST00000512288SPEF2chr5

35659309

+C5orf42chr5

37224435

-
Frame-shiftENST00000356031ENST00000508244SPEF2chr5

35659309

+C5orf42chr5

37224435

-
5CDS-5UTRENST00000356031ENST00000274258SPEF2chr5

35659309

+C5orf42chr5

37224435

-
5CDS-5UTRENST00000356031ENST00000425232SPEF2chr5

35659309

+C5orf42chr5

37224435

-
5CDS-intronENST00000356031ENST00000512288SPEF2chr5

35659309

+C5orf42chr5

37224435

-
Frame-shiftENST00000440995ENST00000508244SPEF2chr5

35659309

+C5orf42chr5

37224435

-
5CDS-5UTRENST00000440995ENST00000274258SPEF2chr5

35659309

+C5orf42chr5

37224435

-
5CDS-5UTRENST00000440995ENST00000425232SPEF2chr5

35659309

+C5orf42chr5

37224435

-
5CDS-intronENST00000440995ENST00000512288SPEF2chr5

35659309

+C5orf42chr5

37224435

-
intron-3CDSENST00000303129ENST00000508244SPEF2chr5

35659309

+C5orf42chr5

37224435

-
intron-5UTRENST00000303129ENST00000274258SPEF2chr5

35659309

+C5orf42chr5

37224435

-
intron-5UTRENST00000303129ENST00000425232SPEF2chr5

35659309

+C5orf42chr5

37224435

-
intron-intronENST00000303129ENST00000512288SPEF2chr5

35659309

+C5orf42chr5

37224435

-

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 SPEF2-C5orf42


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 SPEF2-C5orf42


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
..
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: 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.

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 SPEF2-C5orf42


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 SPEF2-C5orf42


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 SPEF2-C5orf42


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 SPEF2-C5orf42


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSPEF2C0022521Kartagener Syndrome1ORPHANET
HgeneSPEF2C4317124Polynesian Bronchiectasis1ORPHANET
HgeneSPEF2C4551720Primary Ciliary Dyskinesia1ORPHANET
HgeneSPEF2C4551906Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus1ORPHANET