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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:ZNF430-SEC31A (FusionGDB2 ID:102084)

Fusion Gene Summary for ZNF430-SEC31A

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF430-SEC31A
Fusion gene ID: 102084
HgeneTgene
Gene symbol

ZNF430

SEC31A

Gene ID

80264

22872

Gene namezinc finger protein 430SEC31 homolog A, COPII coat complex component
Synonyms-ABP125|ABP130|HSPC275|HSPC334|NEDSOSB|SEC31L1
Cytomap

19p12

4q21.22

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 430protein transport protein Sec31ASEC31 homolog A, COPII coating complex componentSEC31-like protein 1SEC31-related protein Aweb1-like proteinyeast Sec31p homolog
Modification date2020031320200313
UniProtAcc.

O94979

Ensembl transtripts involved in fusion geneENST00000261560, ENST00000595401, 
ENST00000599548, 		ENST00000264405, 
ENST00000311785, ENST00000326950, 
ENST00000348405, ENST00000355196, 
ENST00000395310, ENST00000432794, 
ENST00000436790, ENST00000443462, 
ENST00000448323, ENST00000500777, 
ENST00000505472, ENST00000505984, 
ENST00000508479, ENST00000508502, 
ENST00000509142, ENST00000513858, 
Fusion gene scores* DoF score6 X 2 X 5=6027 X 19 X 11=5643
# samples 628
** MAII scorelog2(6/60*10)=0log2(28/5643*10)=-4.33296361729939
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZNF430 [Title/Abstract] AND SEC31A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZNF430(21205687)-SEC31A(83752128), # 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
TgeneSEC31A

GO:0051592

response to calcium ion

17196169

TgeneSEC31A

GO:0090110

cargo loading into COPII-coated vesicle

17499046|18843296


check buttonFusion gene breakpoints across ZNF430 (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 SEC31A (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
ChimerDB4STADTCGA-BR-4363-01AZNF430chr19

21205687

+SEC31Achr4

83752128

-


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Fusion Gene ORF analysis for ZNF430-SEC31A

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-intronENST00000261560ENST00000264405ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000261560ENST00000311785ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000261560ENST00000326950ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000261560ENST00000348405ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000261560ENST00000355196ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000261560ENST00000395310ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000261560ENST00000432794ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000261560ENST00000436790ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000261560ENST00000443462ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000261560ENST00000448323ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000261560ENST00000500777ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000261560ENST00000505472ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000261560ENST00000505984ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000261560ENST00000508479ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000261560ENST00000508502ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000261560ENST00000509142ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000261560ENST00000513858ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000595401ENST00000264405ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000595401ENST00000311785ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000595401ENST00000326950ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000595401ENST00000348405ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000595401ENST00000355196ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000595401ENST00000395310ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000595401ENST00000432794ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000595401ENST00000436790ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000595401ENST00000443462ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000595401ENST00000448323ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000595401ENST00000500777ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000595401ENST00000505472ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000595401ENST00000505984ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000595401ENST00000508479ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000595401ENST00000508502ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000595401ENST00000509142ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000595401ENST00000513858ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000599548ENST00000264405ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000599548ENST00000311785ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000599548ENST00000326950ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000599548ENST00000348405ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000599548ENST00000355196ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000599548ENST00000395310ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000599548ENST00000432794ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000599548ENST00000436790ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000599548ENST00000443462ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000599548ENST00000448323ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000599548ENST00000500777ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000599548ENST00000505472ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000599548ENST00000505984ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000599548ENST00000508479ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000599548ENST00000508502ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000599548ENST00000509142ZNF430chr19

21205687

+SEC31Achr4

83752128

-
5CDS-intronENST00000599548ENST00000513858ZNF430chr19

21205687

+SEC31Achr4

83752128

-

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 ZNF430-SEC31A


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 ZNF430-SEC31A


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/:21205687/:83752128)
- 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
.SEC31A

O94979

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER) (PubMed:10788476). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules (By similarity). {ECO:0000250|UniProtKB:Q9Z2Q1, ECO:0000269|PubMed:10788476}.

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 ZNF430-SEC31A


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 ZNF430-SEC31A


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 ZNF430-SEC31A


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 ZNF430-SEC31A


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