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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:GOLGA4-CYB5A (FusionGDB2 ID:HG2803TG1528)

Fusion Gene Summary for GOLGA4-CYB5A

check button Fusion gene summary
Fusion gene informationFusion gene name: GOLGA4-CYB5A
Fusion gene ID: hg2803tg1528
HgeneTgene
Gene symbol

GOLGA4

CYB5A

Gene ID

2803

1528

Gene namegolgin A4cytochrome b5 type A
SynonymsCRPF46|GCP2|GOLG|MU-RMS-40.18|p230CYB5|MCB5|METAG
Cytomap('GOLGA4')('CYB5A')

3p22.2

18q22.3

Type of geneprotein-codingprotein-coding
Descriptiongolgin subfamily A member 4256 kDa golgin72.1 proteincentrosome-related protein F46golgi autoantigen, golgin subfamily a, 4golgin-240golgin-245protein 72.1trans-Golgi p230cytochrome b5cytochrome b5 type A (microsomal)epididymis secretory sperm binding proteintype 1 cyt-b5
Modification date2020031320200313
UniProtAcc

Q13439

.
Ensembl transtripts involved in fusion geneENST00000435830, ENST00000356847, 
ENST00000361924, ENST00000444882, 
Fusion gene scores* DoF score24 X 16 X 11=422412 X 9 X 7=756
# samples 2713
** MAII scorelog2(27/4224*10)=-3.96757852230762
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/756*10)=-2.53987461119262
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GOLGA4 [Title/Abstract] AND CYB5A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGOLGA4(37343823)-CYB5A(71928179), # samples:1
Anticipated loss of major functional domain due to fusion event.GOLGA4-CYB5A seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneGOLGA4

GO:0043001

Golgi to plasma membrane protein transport

15265687

HgeneGOLGA4

GO:0045773

positive regulation of axon extension

22705394



check button Fusion gene information
* 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
ChimerDB4LUADTCGA-67-4679GOLGA4chr3

37343823

+CYB5Achr18

71928179

-


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Fusion Gene ORF analysis for GOLGA4-CYB5A

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-3CDSENST00000435830ENST00000340533GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
3UTR-3CDSENST00000435830ENST00000494131GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
3UTR-5UTRENST00000435830ENST00000579064GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
3UTR-intronENST00000435830ENST00000299438GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
3UTR-intronENST00000435830ENST00000397914GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
5CDS-5UTRENST00000356847ENST00000579064GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
5CDS-5UTRENST00000361924ENST00000579064GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
5CDS-intronENST00000356847ENST00000299438GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
5CDS-intronENST00000356847ENST00000397914GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
5CDS-intronENST00000361924ENST00000299438GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
5CDS-intronENST00000361924ENST00000397914GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
Frame-shiftENST00000356847ENST00000340533GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
Frame-shiftENST00000356847ENST00000494131GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
Frame-shiftENST00000361924ENST00000340533GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
Frame-shiftENST00000361924ENST00000494131GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
intron-3CDSENST00000444882ENST00000340533GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
intron-3CDSENST00000444882ENST00000494131GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
intron-5UTRENST00000444882ENST00000579064GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
intron-intronENST00000444882ENST00000299438GOLGA4chr3

37343823

+CYB5Achr18

71928179

-
intron-intronENST00000444882ENST00000397914GOLGA4chr3

37343823

+CYB5Achr18

71928179

-

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 GOLGA4-CYB5A


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)


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Fusion Protein Features for GOLGA4-CYB5A


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/:37343823/:71928179)
- 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
GOLGA4

Q13439

.
FUNCTION: Involved in vesicular trafficking at the Golgi apparatus level. May play a role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with MACF1. Involved in endosome-to-Golgi trafficking (PubMed:29084197). {ECO:0000269|PubMed:15265687, ECO:0000269|PubMed:29084197}.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}.

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 GOLGA4-CYB5A


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 GOLGA4-CYB5A


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 GOLGA4-CYB5A


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 GOLGA4-CYB5A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGOLGA4C0033578Prostatic Neoplasms1CTD_human
HgeneGOLGA4C0037274Dermatologic disorders1CTD_human
HgeneGOLGA4C0274861Arsenic Poisoning, Inorganic1CTD_human
HgeneGOLGA4C0274862Nervous System, Organic Arsenic Poisoning1CTD_human
HgeneGOLGA4C0311375Arsenic Poisoning1CTD_human
HgeneGOLGA4C0376358Malignant neoplasm of prostate1CTD_human
HgeneGOLGA4C0751851Arsenic Encephalopathy1CTD_human
HgeneGOLGA4C0751852Arsenic Induced Polyneuropathy1CTD_human
TgeneC4285231METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA3GENOMICS_ENGLAND;UNIPROT
TgeneC0014175Endometriosis1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneC0268285Adrenal hyperplasia, congenital, type 51ORPHANET
TgeneC0269102Endometrioma1CTD_human