FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ZNF224-CYP2S1 (FusionGDB2 ID:100958)

Fusion Gene Summary for ZNF224-CYP2S1

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF224-CYP2S1
Fusion gene ID: 100958
HgeneTgene
Gene symbol

ZNF224

CYP2S1

Gene ID

7767

29785

Gene namezinc finger protein 224cytochrome P450 family 2 subfamily S member 1
SynonymsBMZF-2|BMZF2|KOX22|ZNF233|ZNF255|ZNF27CYPIIS1
Cytomap

19q13.31

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 224bone marrow zinc finger 2zinc finger protein 233zinc finger protein 255zinc finger protein 27zinc finger protein KOX22cytochrome P450 2S1cytochrome P450, family 2, subfamily S, polypeptide 1cytochrome P540, subfamily IIS, polypeptide 1hydroperoxy icosatetraenoate dehydratasethromboxane-A synthase
Modification date2020031320200313
UniProtAcc.

Q96SQ9

Ensembl transtripts involved in fusion geneENST00000336976, ENST00000586978, 
ENST00000310054, ENST00000542619, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 6 X 5=180
# samples 17
** MAII scorelog2(1/1*10)=3.32192809488736log2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZNF224 [Title/Abstract] AND CYP2S1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZNF224(44602041)-CYP2S1(41711863), # samples:3
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
HgeneZNF224

GO:0000122

negative regulation of transcription by RNA polymerase II

12527367

HgeneZNF224

GO:0045892

negative regulation of transcription, DNA-templated

20587513

TgeneCYP2S1

GO:0006690

icosanoid metabolic process

21068195

TgeneCYP2S1

GO:0006693

prostaglandin metabolic process

21068195

TgeneCYP2S1

GO:0042573

retinoic acid metabolic process

12711469


check buttonFusion gene breakpoints across ZNF224 (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 CYP2S1 (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-A8BU-01AZNF224chr19

44602041

+CYP2S1chr19

41711863

+
ChimerDB4SARCTCGA-DX-AB2J-01AZNF224chr19

44602041

+CYP2S1chr19

41711863

+
ChimerDB4SARCTCGA-DX-A8BU-01AZNF224chr19

44602041

-CYP2S1chr19

41711863

+


Top

Fusion Gene ORF analysis for ZNF224-CYP2S1

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
In-frameENST00000336976ENST00000310054ZNF224chr19

44602041

+CYP2S1chr19

41711863

+
In-frameENST00000336976ENST00000542619ZNF224chr19

44602041

+CYP2S1chr19

41711863

+
intron-3CDSENST00000586978ENST00000310054ZNF224chr19

44602041

+CYP2S1chr19

41711863

+
intron-3CDSENST00000586978ENST00000542619ZNF224chr19

44602041

+CYP2S1chr19

41711863

+

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)
ENST00000336976ZNF224chr1944602041+ENST00000310054CYP2S1chr1941711863+16712698821553223
ENST00000336976ZNF224chr1944602041+ENST00000542619CYP2S1chr1941711863+1049269149619156

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
ENST00000336976ENST00000310054ZNF224chr1944602041+CYP2S1chr1941711863+0.215634610.78436536
ENST00000336976ENST00000542619ZNF224chr1944602041+CYP2S1chr1941711863+0.067670290.9323298

Top

Fusion Genomic Features for ZNF224-CYP2S1


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)
ZNF224chr1944602041+CYP2S1chr1941711862+1.58E-070.9999999
ZNF224chr1944602041+CYP2S1chr1941711862+1.58E-070.9999999
ZNF224chr1944602041+CYP2S1chr1941711862+1.58E-070.9999999
ZNF224chr1944602041+CYP2S1chr1941711862+1.58E-070.9999999

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.

Top

Fusion Protein Features for ZNF224-CYP2S1


check button Go to

FGviewer for the breakpoints of chr19:44602041-chr19:41711863

.
- 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
.CYP2S1

Q96SQ9

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: A cytochrome P450 monooxygenase involved in the metabolism of retinoids and eicosanoids (PubMed:12711469, PubMed:21068195). In epidermis, may contribute to the oxidative metabolism of all-trans-retinoic acid. For this activity, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:12711469). Additionally, displays peroxidase and isomerase activities toward various oxygenated eicosanoids such as prostaglandin H2 (PGH2) and hydroperoxyeicosatetraenoates (HPETEs) (PubMed:21068195). Independently of cytochrome P450 reductase, NADPH, and O2, catalyzes the breakdown of PGH2 to hydroxyheptadecatrienoic acid (HHT) and malondialdehyde (MDA), which is known to act as a mediator of DNA damage (PubMed:21068195). {ECO:0000269|PubMed:12711469, ECO:0000269|PubMed:21068195}.

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
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+368_785.0708.0DomainKRAB
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36176_1985.0708.0Zinc fingerC2H2-type 1
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36204_2265.0708.0Zinc fingerC2H2-type 2
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36232_2545.0708.0Zinc fingerC2H2-type 3
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36260_2825.0708.0Zinc fingerC2H2-type 4
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36288_3105.0708.0Zinc fingerC2H2-type 5
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36316_3385.0708.0Zinc fingerC2H2-type 6
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36344_3665.0708.0Zinc fingerC2H2-type 7
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36372_3945.0708.0Zinc fingerC2H2-type 8
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36400_4225.0708.0Zinc fingerC2H2-type 9
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36428_4505.0708.0Zinc fingerC2H2-type 10
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36456_4785.0708.0Zinc fingerC2H2-type 11
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36484_5065.0708.0Zinc fingerC2H2-type 12
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36512_5345.0708.0Zinc fingerC2H2-type 13
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36540_5625.0708.0Zinc fingerC2H2-type 14%3B degenerate
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36568_5905.0708.0Zinc fingerC2H2-type 15
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36596_6185.0708.0Zinc fingerC2H2-type 16
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36652_6745.0708.0Zinc fingerC2H2-type 17
HgeneZNF224chr19:44602041chr19:41711863ENST00000336976+36680_7025.0708.0Zinc fingerC2H2-type 18


Top

Fusion Gene Sequence for ZNF224-CYP2S1


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.
>In-frame_ENST00000336976_ENST00000310054_TCGA-DX-A8BU-01A_ZNF224_chr19_44602041_+_CYP2S1_chr19_41711863_length(transcript)=1671nt_BP=269nt
GGTTGCTGCAGTTTTTCCGCGATAGTTTGGGGCAGTTCCGCGCGTTGCAGGCCCTTCTGAATTTCCTGGACCTACGCATTGGATCCTCAA
AGAACTGCTGAATACCACTAGAAACATACCTGTAACCAGAGACAGCTGATTATAGCTTTCTGCAGCAAGGAAGCCCACGTACCAGGGGCT
GTCTTGGCACAATTCTGCTTTCCCAGGAACTGCATCACTCAGGACTCTGCAAGTTTCCAGAAGTAAGAGGGAAAATGACCACGTTCAAGG
GCACGGAGGTCTTCCCCCTCCTTGGCTCCATCCTGCATGACCCCAACATCTTCAAGCACCCAGAAGAGTTCAACCCAGACCGTTTCCTGG
ATGCAGATGGACGGTTCAGGAAGCATGAGGCGTTCCTGCCCTTCTCCTTAGGGAAGCGTGTCTGCCTTGGAGAGGGCCTGGCAAAAGCGG
AGCTCTTCCTCTTCTTCACCACCATCCTACAAGCCTTCTCCCTGGAGAGCCCGTGCCCGCCGGACACCCTGAGCCTCAAGCCCACCGTCA
GTGGCCTTTTCAACATTCCCCCAGCCTTCCAGCTGCAAGTCCGTCCCACTGACCTTCACTCCACCACGCAGACCAGATGAAGGAAGGCAA
CTTGGAAGTGGTGGGTGCCCAGGACGGTGCCTCCAGCCTCAACAGTGGGCATGGACAGGGTTAATGTCTCCAGAGTGTACACTGCAGGCA
GCCACATTTACACGCCTGCAGTTGTTTTCCGGAGTCTGTCCCACGGCCCACACGCTCACTTGACTCATGCTGCTAAGATGCACAACCGCA
CACCCATACACAACTACAAGGGCCACAAAGCAACTGCTGGGTTAGCTTTCCACAGACATAAATATAGTCCATCTGCAATCACAAGCACAT
AGCCAGGTAACCCACCAACTCCCCTGGATCTGCAGCCCACACGTGGGAGTCTGGCTGTCACCTTCACAAGCCACAGAAACGGCCACACAT
GTTCACAGCTCACACGCCCTCTCCATTCATCGAACTTCTCAGTGTCCCTGTCCCTGGTGCCTGGCACAGGGAACAGCATGCCCCCTCCGG
GGTCATGCCACCCAGAGACTGTCGCTGTCTATGGCCCCAACTCATGCTCCCTCTCTTGGCTACACCACTCTCCCAGCCTGTGACCACCGA
TGTCCACACACCCCCAACCACTTGTCCACACAGCTACCCACGTACGACATCGTCCTGGCTCCCCAGAGTATCTTCCCACTGAGACACGCC
GCCCCCACAGAGGCACAGTCCCCAGCCACCTCTGCAACTGCAGCCCTCAGTCACCCCTTTTTAAGCACCCTGATTCTACCAAATGCAAAC
ACATCTGGGTCTGCGATTATGCACAGAGACTTTGGACATACGAGGACCCTCAGACCGGAGGAACACCTGCCCAACCCCAACACGTGCTTA
TGTAACCACGTGGAAAGCGGCCCCTGCTGCCCCTCCACACACACATACACACTCACTGATCTACAGCCCCTGTTCGGCGTCAGAGTCCCC
ACTAGACCCAGTGGAAGGGGTTAGAGACCAAGTAGGGGCCAGTTTCCAATTCACCCTGTCAGGGAGTGAGCCGGATCTGACGTTCCTTGT

>In-frame_ENST00000336976_ENST00000310054_TCGA-DX-A8BU-01A_ZNF224_chr19_44602041_+_CYP2S1_chr19_41711863_length(amino acids)=223AA_start in transcript=882_stop in transcript=1553
MQSQAHSQVTHQLPWICSPHVGVWLSPSQATETATHVHSSHALSIHRTSQCPCPWCLAQGTACPLRGHATQRLSLSMAPTHAPSLGYTTL
PACDHRCPHTPNHLSTQLPTYDIVLAPQSIFPLRHAAPTEAQSPATSATAALSHPFLSTLILPNANTSGSAIMHRDFGHTRTLRPEEHLP

--------------------------------------------------------------
>In-frame_ENST00000336976_ENST00000542619_TCGA-DX-A8BU-01A_ZNF224_chr19_44602041_+_CYP2S1_chr19_41711863_length(transcript)=1049nt_BP=269nt
GGTTGCTGCAGTTTTTCCGCGATAGTTTGGGGCAGTTCCGCGCGTTGCAGGCCCTTCTGAATTTCCTGGACCTACGCATTGGATCCTCAA
AGAACTGCTGAATACCACTAGAAACATACCTGTAACCAGAGACAGCTGATTATAGCTTTCTGCAGCAAGGAAGCCCACGTACCAGGGGCT
GTCTTGGCACAATTCTGCTTTCCCAGGAACTGCATCACTCAGGACTCTGCAAGTTTCCAGAAGTAAGAGGGAAAATGACCACGTTCAAGG
GCACGGAGGTCTTCCCCCTCCTTGGCTCCATCCTGCATGACCCCAACATCTTCAAGCACCCAGAAGAGTTCAACCCAGACCGTTTCCTGG
ATGCAGATGGACGGTTCAGGAAGCATGAGGCGTTCCTGCCCTTCTCCTTAGGGAAGCGTGTCTGCCTTGGAGAGGGCCTGGCAAAAGCGG
AGCTCTTCCTCTTCTTCACCACCATCCTACAAGCCTTCTCCCTGGAGAGCCCGTGCCCGCCGGACACCCTGAGCCTCAAGCCCACCGTCA
GTGGCCTTTTCAACATTCCCCCAGCCTTCCAGCTGCAAGTCCGTCCCACTGACCTTCACTCCACCACGCAGACCAGATGAAGGAAGGCAA
CTTGGAAGTGGTGGGTGCCCAGGACGGTGCCTCCAGCCTCAACAGTGGGCATGGACAGGGTTAATGTCTCCAGAGTGTACACTGCAGGCA
GCCACATTTACACGCCTGCAGTTGTTTTCCGGAGTCTGTCCCACGGCCCACACGCTCACTTGACTCATGCTGCTAAGATGCACAACCGCA
CACCCATACACAACTACAAGGGCCACAAAGCAACTGCTGGGTTAGCTTTCCACAGACATAAATATAGTCCATCTGCAATCACAAGCACAT
AGCCAGGTAACCCACCAACTCCCCTGGATCTGCAGCCCACACGTGGGAGTCTGGCTGTCACCTTCACAAGCCACAGAAACGGCCACACAT

>In-frame_ENST00000336976_ENST00000542619_TCGA-DX-A8BU-01A_ZNF224_chr19_44602041_+_CYP2S1_chr19_41711863_length(amino acids)=156AA_start in transcript=149_stop in transcript=619
MQQGSPRTRGCLGTILLSQELHHSGLCKFPEVRGKMTTFKGTEVFPLLGSILHDPNIFKHPEEFNPDRFLDADGRFRKHEAFLPFSLGKR

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for ZNF224-CYP2S1


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


Top

Related Drugs for ZNF224-CYP2S1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for ZNF224-CYP2S1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCYP2S1C0030246Pustulosis of Palms and Soles1CTD_human
TgeneCYP2S1C0033860Psoriasis1CTD_human