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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:DIAPH1-CYSTM1 (FusionGDB2 ID:22740)

Fusion Gene Summary for DIAPH1-CYSTM1

check button Fusion gene summary
Fusion gene informationFusion gene name: DIAPH1-CYSTM1
Fusion gene ID: 22740
HgeneTgene
Gene symbol

DIAPH1

CYSTM1

Gene ID

1729

84418

Gene namediaphanous related formin 1cysteine rich transmembrane module containing 1
SynonymsDFNA1|DIA1|DRF1|LFHL1|SCBMS|hDIA1C5orf32|ORF1-FL49
Cytomap

5q31.3

5q31.3

Type of geneprotein-codingprotein-coding
Descriptionprotein diaphanous homolog 1cysteine-rich and transmembrane domain-containing protein 1UPF0467 protein C5orf32putative nuclear protein ORF1-FL49
Modification date2020031320200313
UniProtAcc

O60610

Q9H1C7

Ensembl transtripts involved in fusion geneENST00000253811, ENST00000389054, 
ENST00000389057, ENST00000398557, 
ENST00000398562, ENST00000398566, 
ENST00000518047, ENST00000494967, 
ENST00000520569, 		ENST00000509789, 
ENST00000261811, 
Fusion gene scores* DoF score6 X 6 X 5=18026 X 7 X 13=2366
# samples 734
** MAII scorelog2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(34/2366*10)=-2.79884342220209
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DIAPH1 [Title/Abstract] AND CYSTM1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDIAPH1(140998365)-CYSTM1(139622890), # samples:2
Anticipated loss of major functional domain due to fusion event.DIAPH1-CYSTM1 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 DIAPH1 (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 CYSTM1 (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
ChimerDB4LUSCTCGA-66-2768-01ADIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
ChimerDB4LUSCTCGA-66-2768DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
ChimerDB4LUSCTCGA-66-2768DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+


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Fusion Gene ORF analysis for DIAPH1-CYSTM1

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-3UTRENST00000253811ENST00000509789DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
5CDS-3UTRENST00000253811ENST00000509789DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
5CDS-3UTRENST00000389054ENST00000509789DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
5CDS-3UTRENST00000389054ENST00000509789DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
5CDS-3UTRENST00000389057ENST00000509789DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
5CDS-3UTRENST00000389057ENST00000509789DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
5CDS-3UTRENST00000398557ENST00000509789DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
5CDS-3UTRENST00000398557ENST00000509789DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
5CDS-3UTRENST00000398562ENST00000509789DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
5CDS-3UTRENST00000398562ENST00000509789DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
5CDS-3UTRENST00000398566ENST00000509789DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
5CDS-3UTRENST00000398566ENST00000509789DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
5CDS-3UTRENST00000518047ENST00000509789DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
5CDS-3UTRENST00000518047ENST00000509789DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
Frame-shiftENST00000253811ENST00000261811DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
Frame-shiftENST00000253811ENST00000261811DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
Frame-shiftENST00000389054ENST00000261811DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
Frame-shiftENST00000389054ENST00000261811DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
Frame-shiftENST00000389057ENST00000261811DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
Frame-shiftENST00000389057ENST00000261811DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
Frame-shiftENST00000398557ENST00000261811DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
Frame-shiftENST00000398557ENST00000261811DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
Frame-shiftENST00000398562ENST00000261811DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
Frame-shiftENST00000398562ENST00000261811DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
Frame-shiftENST00000398566ENST00000261811DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
Frame-shiftENST00000398566ENST00000261811DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
Frame-shiftENST00000518047ENST00000261811DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
Frame-shiftENST00000518047ENST00000261811DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
intron-3CDSENST00000494967ENST00000261811DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
intron-3CDSENST00000494967ENST00000261811DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
intron-3CDSENST00000520569ENST00000261811DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
intron-3CDSENST00000520569ENST00000261811DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
intron-3UTRENST00000494967ENST00000509789DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
intron-3UTRENST00000494967ENST00000509789DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+
intron-3UTRENST00000520569ENST00000509789DIAPH1chr5

140998365

-CYSTM1chr5

139622890

+
intron-3UTRENST00000520569ENST00000509789DIAPH1chr5

140998364

-CYSTM1chr5

139622889

+

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 DIAPH1-CYSTM1


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)
DIAPH1chr5140998364-CYSTM1chr5139622889+2.90E-060.99999714
DIAPH1chr5140998364-CYSTM1chr5139622889+2.90E-060.99999714
DIAPH1chr5140998364-CYSTM1chr5139622889+2.90E-060.99999714
DIAPH1chr5140998364-CYSTM1chr5139622889+2.90E-060.99999714

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.
genomic feature of top 1%

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Fusion Protein Features for DIAPH1-CYSTM1


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/:140998365/:139622890)
- 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
DIAPH1

O60610

CYSTM1

Q9H1C7

FUNCTION: Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization (By similarity). Required for cytokinesis, and transcriptional activation of the serum response factor (By similarity). DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity). Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity. Acts in a Rho-dependent manner to recruit PFY1 to the membrane (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells (PubMed:20937854, PubMed:21834987, PubMed:26912466). The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854, PubMed:21834987). It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity (PubMed:20937854, PubMed:21834987). In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization (PubMed:20937854, PubMed:21834987). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape (PubMed:20937854, PubMed:21834987). Plays a role in brain development (PubMed:24781755). Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity (By similarity). {ECO:0000250|UniProtKB:O08808, ECO:0000269|PubMed:20937854, ECO:0000269|PubMed:21834987, ECO:0000269|PubMed:24781755, ECO:0000269|PubMed:26912466}.

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 DIAPH1-CYSTM1


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 DIAPH1-CYSTM1


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 DIAPH1-CYSTM1


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 DIAPH1-CYSTM1


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