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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:SEC61A2-CDC123 (FusionGDB2 ID:80138)

Fusion Gene Summary for SEC61A2-CDC123

check button Fusion gene summary
Fusion gene informationFusion gene name: SEC61A2-CDC123
Fusion gene ID: 80138
HgeneTgene
Gene symbol

SEC61A2

CDC123

Gene ID

55176

8872

Gene nameSEC61 translocon subunit alpha 2cell division cycle 123
Synonyms-C10orf7|D123
Cytomap

10p14

10p14-p13

Type of geneprotein-codingprotein-coding
Descriptionprotein transport protein Sec61 subunit alpha isoform 2SEC61 translocon alpha 2 subunitSec61 alpha 2 subunitSec61 alpha form 2protein transport protein Sec61 subunit alphasec61 alpha-2cell division cycle protein 123 homologHT-1080PZ32cell division cycle 123 homolog
Modification date2020031320200313
UniProtAcc.

O75794

Ensembl transtripts involved in fusion geneENST00000495368, ENST00000298428, 
ENST00000304267, ENST00000379017, 
ENST00000379020, ENST00000379033, 
ENST00000379051, 
ENST00000281141, 
ENST00000378900, ENST00000455773, 
Fusion gene scores* DoF score7 X 8 X 5=28010 X 9 X 8=720
# samples 911
** MAII scorelog2(9/280*10)=-1.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/720*10)=-2.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SEC61A2 [Title/Abstract] AND CDC123 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSEC61A2(12191960)-CDC123(12277046), # 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 SEC61A2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CDC123 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4ESCATCGA-LN-A49LSEC61A2chr10

12191960

+CDC123chr10

12277046

+


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Fusion Gene ORF analysis for SEC61A2-CDC123

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
3UTR-3CDSENST00000495368ENST00000281141SEC61A2chr10

12191960

+CDC123chr10

12277046

+
3UTR-3UTRENST00000495368ENST00000378900SEC61A2chr10

12191960

+CDC123chr10

12277046

+
3UTR-3UTRENST00000495368ENST00000455773SEC61A2chr10

12191960

+CDC123chr10

12277046

+
5CDS-3UTRENST00000298428ENST00000378900SEC61A2chr10

12191960

+CDC123chr10

12277046

+
5CDS-3UTRENST00000298428ENST00000455773SEC61A2chr10

12191960

+CDC123chr10

12277046

+
5CDS-3UTRENST00000304267ENST00000378900SEC61A2chr10

12191960

+CDC123chr10

12277046

+
5CDS-3UTRENST00000304267ENST00000455773SEC61A2chr10

12191960

+CDC123chr10

12277046

+
5CDS-3UTRENST00000379017ENST00000378900SEC61A2chr10

12191960

+CDC123chr10

12277046

+
5CDS-3UTRENST00000379017ENST00000455773SEC61A2chr10

12191960

+CDC123chr10

12277046

+
5CDS-3UTRENST00000379020ENST00000378900SEC61A2chr10

12191960

+CDC123chr10

12277046

+
5CDS-3UTRENST00000379020ENST00000455773SEC61A2chr10

12191960

+CDC123chr10

12277046

+
5CDS-3UTRENST00000379033ENST00000378900SEC61A2chr10

12191960

+CDC123chr10

12277046

+
5CDS-3UTRENST00000379033ENST00000455773SEC61A2chr10

12191960

+CDC123chr10

12277046

+
5CDS-3UTRENST00000379051ENST00000378900SEC61A2chr10

12191960

+CDC123chr10

12277046

+
5CDS-3UTRENST00000379051ENST00000455773SEC61A2chr10

12191960

+CDC123chr10

12277046

+
In-frameENST00000298428ENST00000281141SEC61A2chr10

12191960

+CDC123chr10

12277046

+
In-frameENST00000304267ENST00000281141SEC61A2chr10

12191960

+CDC123chr10

12277046

+
In-frameENST00000379017ENST00000281141SEC61A2chr10

12191960

+CDC123chr10

12277046

+
In-frameENST00000379020ENST00000281141SEC61A2chr10

12191960

+CDC123chr10

12277046

+
In-frameENST00000379033ENST00000281141SEC61A2chr10

12191960

+CDC123chr10

12277046

+
In-frameENST00000379051ENST00000281141SEC61A2chr10

12191960

+CDC123chr10

12277046

+

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 SEC61A2-CDC123


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)
SEC61A2chr1012191960+CDC123chr1012277046+4.68E-050.99995315
SEC61A2chr1012191960+CDC123chr1012277046+4.68E-050.99995315

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.
genomic feature

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 SEC61A2-CDC123


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/chr10:12191960/chr10:12277046)
- 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
.CDC123

O75794

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: Required for S phase entry of the cell cycle. {ECO:0000250}.

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
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+612139_144154477.0Topological domainLumenal
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+6121_33154477.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+61254_76154477.0Topological domainLumenal
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+61297_117154477.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+612139_144154438.0Topological domainLumenal
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+6121_33154438.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+61254_76154438.0Topological domainLumenal
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+61297_117154438.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+5111_33132455.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+51154_76132455.0Topological domainLumenal
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+51197_117132455.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+612118_138154477.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+61234_53154477.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+61277_96154477.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+612118_138154438.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+61234_53154438.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+61277_96154438.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+51134_53132455.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+51177_96132455.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+612166_172154477.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+612194_240154477.0Topological domainLumenal
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+612262_288154477.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+612310_354154477.0Topological domainLumenal
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+612376_420154477.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+612442_445154477.0Topological domainLumenal
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+612463_476154477.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+612166_172154438.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+612194_240154438.0Topological domainLumenal
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+612262_288154438.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+612310_354154438.0Topological domainLumenal
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+612376_420154438.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+612442_445154438.0Topological domainLumenal
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+612463_476154438.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+511139_144132455.0Topological domainLumenal
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+511166_172132455.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+511194_240132455.0Topological domainLumenal
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+511262_288132455.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+511310_354132455.0Topological domainLumenal
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+511376_420132455.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+511442_445132455.0Topological domainLumenal
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+511463_476132455.0Topological domainCytoplasmic
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+612145_165154477.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+612173_193154477.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+612241_261154477.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+612289_309154477.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+612355_375154477.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+612421_441154477.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000298428+612446_462154477.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+612145_165154438.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+612173_193154438.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+612241_261154438.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+612289_309154438.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+612355_375154438.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+612421_441154438.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000304267+612446_462154438.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+511118_138132455.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+511145_165132455.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+511173_193132455.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+511241_261132455.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+511289_309132455.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+511355_375132455.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+511421_441132455.0TransmembraneHelical
HgeneSEC61A2chr10:12191960chr10:12277046ENST00000379033+511446_462132455.0TransmembraneHelical


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Fusion Gene Sequence for SEC61A2-CDC123


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 SEC61A2-CDC123


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 SEC61A2-CDC123


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 SEC61A2-CDC123


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