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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:CYP17A1-ATP9A (FusionGDB2 ID:HG1586TG10079)

Fusion Gene Summary for CYP17A1-ATP9A

check button Fusion gene summary
Fusion gene informationFusion gene name: CYP17A1-ATP9A
Fusion gene ID: hg1586tg10079
HgeneTgene
Gene symbol

CYP17A1

ATP9A

Gene ID

1586

10079

Gene namecytochrome P450 family 17 subfamily A member 1ATPase phospholipid transporting 9A (putative)
SynonymsCPT7|CYP17|P450C17|S17AHATPIIA
Cytomap('CYP17A1')('ATP9A')

10q24.32

20q13.2

Type of geneprotein-codingprotein-coding
Descriptionsteroid 17-alpha-hydroxylase/17,20 lyase17-alpha-hydroxyprogesterone aldolaseCYPXVIIcytochrome P450 17A1cytochrome P450, family 17, subfamily A, polypeptide 1cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasiacytochroprobable phospholipid-transporting ATPase IIAATPase type IV, phospholipid-transporting (P-type),(putative)ATPase, class II, type 9Aphospholipid-transporting ATPase IIA
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000369887, ENST00000489268, 
Fusion gene scores* DoF score7 X 6 X 3=12618 X 17 X 7=2142
# samples 718
** MAII scorelog2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/2142*10)=-3.57288966842058
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CYP17A1 [Title/Abstract] AND ATP9A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCYP17A1(104590291)-ATP9A(50259267), # 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
HgeneCYP17A1

GO:0008202

steroid metabolic process

22266943

HgeneCYP17A1

GO:0042446

hormone biosynthetic process

22266943

HgeneCYP17A1

GO:0042448

progesterone metabolic process

22266943



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
ChiTaRS5.0N/AAV711352CYP17A1chr10

104590291

-ATP9Achr20

50259267

+


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Fusion Gene ORF analysis for CYP17A1-ATP9A

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-intronENST00000369887ENST00000311637CYP17A1chr10

104590291

-ATP9Achr20

50259267

+
5CDS-intronENST00000369887ENST00000338821CYP17A1chr10

104590291

-ATP9Achr20

50259267

+
5CDS-intronENST00000369887ENST00000402822CYP17A1chr10

104590291

-ATP9Achr20

50259267

+
5CDS-intronENST00000369887ENST00000477492CYP17A1chr10

104590291

-ATP9Achr20

50259267

+
intron-intronENST00000489268ENST00000311637CYP17A1chr10

104590291

-ATP9Achr20

50259267

+
intron-intronENST00000489268ENST00000338821CYP17A1chr10

104590291

-ATP9Achr20

50259267

+
intron-intronENST00000489268ENST00000402822CYP17A1chr10

104590291

-ATP9Achr20

50259267

+
intron-intronENST00000489268ENST00000477492CYP17A1chr10

104590291

-ATP9Achr20

50259267

+

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 CYP17A1-ATP9A


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 CYP17A1-ATP9A


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/:104590291/:50259267)
- 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
..
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: 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 CYP17A1-ATP9A


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 CYP17A1-ATP9A


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 CYP17A1-ATP9A


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 CYP17A1-ATP9A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCYP17A1C0268285Adrenal hyperplasia, congenital, type 519CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCYP17A1C0033578Prostatic Neoplasms5CTD_human
HgeneCYP17A1C0376358Malignant neoplasm of prostate5CTD_human
HgeneCYP17A1C0001627Congenital adrenal hyperplasia1CTD_human;GENOMICS_ENGLAND
HgeneCYP17A1C0002453Amenorrhea1CTD_human
HgeneCYP17A1C0006142Malignant neoplasm of breast1CTD_human
HgeneCYP17A1C0010093Corpus Luteum Cyst1CTD_human
HgeneCYP17A1C0016722Frigidity1CTD_human
HgeneCYP17A1C0020461Hyperkalemia1CTD_human
HgeneCYP17A1C0020540Malignant Hypertension1CTD_human
HgeneCYP17A1C0020594Hypoactive Sexual Desire Disorder1CTD_human
HgeneCYP17A1C0020619Hypogonadism1CTD_human
HgeneCYP17A1C0020635Hypopituitarism1CTD_human
HgeneCYP17A1C0021361Female infertility1CTD_human
HgeneCYP17A1C0021364Male infertility1CTD_human
HgeneCYP17A1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCYP17A1C0027796Neuralgia1CTD_human
HgeneCYP17A1C0028949Oligomenorrhea1CTD_human
HgeneCYP17A1C0029261Orgasmic Disorder1CTD_human
HgeneCYP17A1C0029927Ovarian Cysts1CTD_human
HgeneCYP17A1C0032796Postpartum Amenorrhea1CTD_human
HgeneCYP17A1C0033953Psychosexual Disorders1CTD_human
HgeneCYP17A1C0036902Sexual Arousal Disorder1CTD_human
HgeneCYP17A1C0038279Sterility, Postpartum1CTD_human
HgeneCYP17A1C0038870Neuralgia, Supraorbital1CTD_human
HgeneCYP17A1C0042656Neuralgia, Vidian1CTD_human
HgeneCYP17A1C0234247Neuralgia, Atypical1CTD_human
HgeneCYP17A1C0234249Neuralgia, Stump1CTD_human
HgeneCYP17A1C0242342Sheehan Syndrome1CTD_human
HgeneCYP17A1C0271623Hypogonadotropic hypogonadism1CTD_human
HgeneCYP17A1C0341869Subfertility, Female1CTD_human
HgeneCYP17A1C0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgeneCYP17A1C0423711Neuralgia, Perineal1CTD_human
HgeneCYP17A1C0423712Neuralgia, Iliohypogastric Nerve1CTD_human
HgeneCYP17A1C0678222Breast Carcinoma1CTD_human
HgeneCYP17A1C0751371Neuralgia, Ilioinguinal1CTD_human
HgeneCYP17A1C0751372Nerve Pain1CTD_human
HgeneCYP17A1C0751373Paroxysmal Nerve Pain1CTD_human
HgeneCYP17A1C0848676Subfertility, Male1CTD_human
HgeneCYP17A1C0917730Female sterility1CTD_human
HgeneCYP17A1C0917731Male sterility1CTD_human
HgeneCYP17A1C0948896Primary hypogonadism1CTD_human
HgeneCYP17A1C1257931Mammary Neoplasms, Human1CTD_human
HgeneCYP17A1C1458155Mammary Neoplasms1CTD_human
HgeneCYP17A1C2239176Liver carcinoma1CTD_human
HgeneCYP17A1C3241937Nonalcoholic Steatohepatitis1CTD_human
HgeneCYP17A1C3489396Hypogonadism, Isolated Hypogonadotropic1CTD_human
HgeneCYP17A1C4704874Mammary Carcinoma, Human1CTD_human