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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:ZNF407-CYB5A (FusionGDB2 ID:101313)

Fusion Gene Summary for ZNF407-CYB5A

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF407-CYB5A
Fusion gene ID: 101313
HgeneTgene
Gene symbol

ZNF407

CYB5A

Gene ID

55628

1528

Gene namezinc finger protein 407cytochrome b5 type A
Synonyms-CYB5|MCB5|METAG
Cytomap

18q22.3

18q22.3

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 407cytochrome b5cytochrome b5 type A (microsomal)epididymis secretory sperm binding proteintype 1 cyt-b5
Modification date2020031320200313
UniProtAcc.

P00167

Ensembl transtripts involved in fusion geneENST00000582337, ENST00000309902, 
ENST00000577538, ENST00000299687, 
ENST00000584235, 		ENST00000340533, 
ENST00000494131, ENST00000397914, 
ENST00000299438, ENST00000579064, 
Fusion gene scores* DoF score11 X 8 X 4=35212 X 9 X 7=756
# samples 1113
** MAII scorelog2(11/352*10)=-1.67807190511264
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: ZNF407 [Title/Abstract] AND CYB5A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZNF407(72353078)-CYB5A(71923010), # samples:3
Anticipated loss of major functional domain due to fusion event.ZNF407-CYB5A seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
ZNF407-CYB5A seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ZNF407-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

check buttonFusion gene breakpoints across ZNF407 (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 CYB5A (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
ChimerDB4SARCTCGA-DX-A48N-01AZNF407chr18

72353078

+CYB5Achr18

71923010

-
ChimerDB4SARCTCGA-DX-A48NZNF407chr18

72353078

+CYB5Achr18

71923010

-
ChimerDB4SARCTCGA-DX-A48N-01AZNF407chr18

72353078

-CYB5Achr18

71923010

-


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Fusion Gene ORF analysis for ZNF407-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
Frame-shiftENST00000582337ENST00000340533ZNF407chr18

72353078

+CYB5Achr18

71923010

-
5CDS-3UTRENST00000582337ENST00000494131ZNF407chr18

72353078

+CYB5Achr18

71923010

-
5CDS-3UTRENST00000582337ENST00000397914ZNF407chr18

72353078

+CYB5Achr18

71923010

-
5CDS-3UTRENST00000582337ENST00000299438ZNF407chr18

72353078

+CYB5Achr18

71923010

-
5CDS-5UTRENST00000582337ENST00000579064ZNF407chr18

72353078

+CYB5Achr18

71923010

-
Frame-shiftENST00000309902ENST00000340533ZNF407chr18

72353078

+CYB5Achr18

71923010

-
5CDS-3UTRENST00000309902ENST00000494131ZNF407chr18

72353078

+CYB5Achr18

71923010

-
5CDS-3UTRENST00000309902ENST00000397914ZNF407chr18

72353078

+CYB5Achr18

71923010

-
5CDS-3UTRENST00000309902ENST00000299438ZNF407chr18

72353078

+CYB5Achr18

71923010

-
5CDS-5UTRENST00000309902ENST00000579064ZNF407chr18

72353078

+CYB5Achr18

71923010

-
Frame-shiftENST00000577538ENST00000340533ZNF407chr18

72353078

+CYB5Achr18

71923010

-
5CDS-3UTRENST00000577538ENST00000494131ZNF407chr18

72353078

+CYB5Achr18

71923010

-
5CDS-3UTRENST00000577538ENST00000397914ZNF407chr18

72353078

+CYB5Achr18

71923010

-
5CDS-3UTRENST00000577538ENST00000299438ZNF407chr18

72353078

+CYB5Achr18

71923010

-
5CDS-5UTRENST00000577538ENST00000579064ZNF407chr18

72353078

+CYB5Achr18

71923010

-
Frame-shiftENST00000299687ENST00000340533ZNF407chr18

72353078

+CYB5Achr18

71923010

-
5CDS-3UTRENST00000299687ENST00000494131ZNF407chr18

72353078

+CYB5Achr18

71923010

-
5CDS-3UTRENST00000299687ENST00000397914ZNF407chr18

72353078

+CYB5Achr18

71923010

-
5CDS-3UTRENST00000299687ENST00000299438ZNF407chr18

72353078

+CYB5Achr18

71923010

-
5CDS-5UTRENST00000299687ENST00000579064ZNF407chr18

72353078

+CYB5Achr18

71923010

-
intron-3CDSENST00000584235ENST00000340533ZNF407chr18

72353078

+CYB5Achr18

71923010

-
intron-3UTRENST00000584235ENST00000494131ZNF407chr18

72353078

+CYB5Achr18

71923010

-
intron-3UTRENST00000584235ENST00000397914ZNF407chr18

72353078

+CYB5Achr18

71923010

-
intron-3UTRENST00000584235ENST00000299438ZNF407chr18

72353078

+CYB5Achr18

71923010

-
intron-5UTRENST00000584235ENST00000579064ZNF407chr18

72353078

+CYB5Achr18

71923010

-

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 ZNF407-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)

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 ZNF407-CYB5A


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
.CYB5A

P00167

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: Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases.

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 ZNF407-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 ZNF407-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 ZNF407-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
TgeneCYB5AP00167DB11136ChromiumSubstrateSmall moleculeApproved
TgeneCYB5AP00167DB11136ChromiumSubstrateSmall moleculeApproved
TgeneCYB5AP00167DB14527Chromic nitrateSmall moleculeApproved
TgeneCYB5AP00167DB14527Chromic nitrateSmall moleculeApproved
TgeneCYB5AP00167DB14528Chromium gluconateSmall moleculeApproved
TgeneCYB5AP00167DB14528Chromium gluconateSmall moleculeApproved
TgeneCYB5AP00167DB14530Chromous sulfateSmall moleculeApproved
TgeneCYB5AP00167DB14530Chromous sulfateSmall moleculeApproved
TgeneCYB5AP00167DB14529Chromium nicotinateSmall moleculeApproved|Experimental
TgeneCYB5AP00167DB14529Chromium nicotinateSmall moleculeApproved|Experimental

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Related Diseases for ZNF407-CYB5A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCYB5AC4285231METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA3GENOMICS_ENGLAND;UNIPROT
TgeneCYB5AC0014175Endometriosis1CTD_human
TgeneCYB5AC0028754Obesity1CTD_human
TgeneCYB5AC0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneCYB5AC0268285Adrenal hyperplasia, congenital, type 51ORPHANET
TgeneCYB5AC0269102Endometrioma1CTD_human