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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 43574

FusionGeneSummary for ZNF664_AKR1C2

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF664_AKR1C2
Fusion gene ID: 43574
HgeneTgene
Gene symbol

ZNF664

AKR1C2

Gene ID

144348

1646

Gene namezinc finger protein 664aldo-keto reductase family 1 member C2
SynonymsZFOC1|ZNF176AKR1C-pseudo|BABP|DD|DD-2|DD/BABP|DD2|DDH2|HAKRD|HBAB|MCDR2|SRXY8|TDD
Cytomap

12q24.31

10p15.1

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 664zinc finger Organ of Corti 1zinc finger protein 176zinc finger protein from organ of Cortialdo-keto reductase family 1 member C23-alpha-HSD3chlordecone reductase homolog HAKRDdihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type IIIpseudo-chlordecone reductasetesticular 17,20-desmolase deficien
Modification date2018051920180523
UniProtAcc

Q8N3J9

P52895

Ensembl transtripts involved in fusion geneENST00000537532, ENST00000539644, 
ENST00000392404, ENST00000538932, 
ENST00000337815, 		ENST00000380753, 
ENST00000421196, ENST00000407674, 
ENST00000455190, ENST00000604428, 
Fusion gene scores* DoF score7 X 5 X 6=2101 X 1 X 1=1
# samples 71
** MAII scorelog2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: ZNF664 [Title/Abstract] AND AKR1C2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneAKR1C2

GO:0006693

prostaglandin metabolic process

8573067

TgeneAKR1C2

GO:0007186

G-protein coupled receptor signaling pathway

18508192

TgeneAKR1C2

GO:0007586

digestion

8573067

TgeneAKR1C2

GO:0008202

steroid metabolic process

8573067

TgeneAKR1C2

GO:0008284

positive regulation of cell proliferation

18508192

TgeneAKR1C2

GO:0042448

progesterone metabolic process

21232532

TgeneAKR1C2

GO:0051897

positive regulation of protein kinase B signaling

18508192

TgeneAKR1C2

GO:0055114

oxidation-reduction process

21232532

TgeneAKR1C2

GO:0071395

cellular response to jasmonic acid stimulus

19487289

TgeneAKR1C2

GO:0071799

cellular response to prostaglandin D stimulus

18508192


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-OL-A5D7-01AZNF664chr12

124497022

+AKR1C2chr10

5048784

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-intronENST00000537532ENST00000380753ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
intron-intronENST00000537532ENST00000421196ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
intron-intronENST00000537532ENST00000407674ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
intron-intronENST00000537532ENST00000455190ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
intron-intronENST00000537532ENST00000604428ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000539644ENST00000380753ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000539644ENST00000421196ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000539644ENST00000407674ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000539644ENST00000455190ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000539644ENST00000604428ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000392404ENST00000380753ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000392404ENST00000421196ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000392404ENST00000407674ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000392404ENST00000455190ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000392404ENST00000604428ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000538932ENST00000380753ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000538932ENST00000421196ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000538932ENST00000407674ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000538932ENST00000455190ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000538932ENST00000604428ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000337815ENST00000380753ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000337815ENST00000421196ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000337815ENST00000407674ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000337815ENST00000455190ZNF664chr12

124497022

+AKR1C2chr10

5048784

-
5CDS-intronENST00000337815ENST00000604428ZNF664chr12

124497022

+AKR1C2chr10

5048784

-

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FusionProtFeatures for ZNF664_AKR1C2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ZNF664

Q8N3J9

AKR1C2

P52895

May be involved in transcriptional regulation. Works in concert with the 5-alpha/5-beta-steroidreductases to convert steroid hormones into the 3-alpha/5-alphaand 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivationof the most potent androgen 5-alpha-dihydrotestosterone (5-alpha-DHT) to 5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol).Has a high bile-binding ability. {ECO:0000269|PubMed:15929998,ECO:0000269|PubMed:17034817, ECO:0000269|PubMed:17442338,ECO:0000269|PubMed:8573067}.

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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FusionGeneSequence for ZNF664_AKR1C2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for ZNF664_AKR1C2


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
ZNF664ELAVL1, VWCE, RGS20, RETN, ZNF227, IGFBP1AKR1C2AKR1C2, IPO8, AKR1C4, AKR1C3, AKR1C1, ZFP1, GART, PCMT1, SNX3, SOD1, TKT, C11orf54, MIF


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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RelatedDrugs for ZNF664_AKR1C2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneAKR1C2P52895DB06777Chenodeoxycholic acidAldo-keto reductase family 1 member C2small moleculeapproved
TgeneAKR1C2P52895DB01586Ursodeoxycholic acidAldo-keto reductase family 1 member C2small moleculeapproved|investigational

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RelatedDiseases for ZNF664_AKR1C2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAKR1C2C0007621Neoplastic Cell Transformation1CTD_human
TgeneAKR1C2C0011616Contact Dermatitis1CTD_human
TgeneAKR1C2C0014175Endometriosis1CTD_human
TgeneAKR1C2C0027661Neoplasms, Hormone-Dependent1CTD_human
TgeneAKR1C2C0029408Degenerative polyarthritis1CTD_human
TgeneAKR1C2C0032460Polycystic Ovary Syndrome1CTD_human
TgeneAKR1C2C0036875Disorders of Sex Development1CTD_human
TgeneAKR1C2C0043094Weight Gain1CTD_human
TgeneAKR1C2C1839840MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE1ORPHANET;UNIPROT
TgeneAKR1C2C2239176Liver carcinoma1CTD_human