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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: 28576

FusionGeneSummary for PRAME_ACO2

check button Fusion gene summary
Fusion gene informationFusion gene name: PRAME_ACO2
Fusion gene ID: 28576
HgeneTgene
Gene symbol

PRAME

ACO2

Gene ID

23532

50

Gene namepreferentially expressed antigen in melanomaaconitase 2
SynonymsCT130|MAPE|OIP-4|OIP4ACONM|HEL-S-284|ICRD|OCA8|OPA9
Cytomap

22q11.22

22q13.2

Type of geneprotein-codingprotein-coding
Descriptionmelanoma antigen preferentially expressed in tumorsOpa-interacting protein OIP4cancer/testis antigen 130opa-interacting protein 4preferentially expressed antigen of melanomaaconitate hydratase, mitochondrialaconitase 2, mitochondrialcitrate hydro-lyaseepididymis secretory sperm binding protein Li 284mitochondrial aconitase
Modification date2018051920180523
UniProtAcc

P78395

Q99798

Ensembl transtripts involved in fusion geneENST00000398743, ENST00000398741, 
ENST00000543184, ENST00000405655, 
ENST00000539862, ENST00000402697, 
ENST00000424204, ENST00000485532, 
ENST00000406503, 
ENST00000216254, 
ENST00000396512, ENST00000466237, 
Fusion gene scores* DoF score2 X 2 X 1=411 X 9 X 6=594
# samples 212
** MAII scorelog2(2/4*10)=2.32192809488736log2(12/594*10)=-2.30742852519225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PRAME [Title/Abstract] AND ACO2 [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
HgenePRAME

GO:0008284

positive regulation of cell proliferation

16179254

HgenePRAME

GO:0043066

negative regulation of apoptotic process

16179254

HgenePRAME

GO:0045596

negative regulation of cell differentiation

16179254

HgenePRAME

GO:0045892

negative regulation of transcription, DNA-templated

16179254

HgenePRAME

GO:0048387

negative regulation of retinoic acid receptor signaling pathway

16179254

TgeneACO2

GO:0006099

tricarboxylic acid cycle

9630632

TgeneACO2

GO:0006101

citrate metabolic process

9630632


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
TCGARVSKCMTCGA-BF-A5EQ-01APRAMEchr22

22899232

-ACO2chr22

41903795

+
* 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
Frame-shitENST00000398743ENST00000216254PRAMEchr22

22899232

-ACO2chr22

41903795

+
Frame-shitENST00000398743ENST00000396512PRAMEchr22

22899232

-ACO2chr22

41903795

+
5CDS-intronENST00000398743ENST00000466237PRAMEchr22

22899232

-ACO2chr22

41903795

+
Frame-shitENST00000398741ENST00000216254PRAMEchr22

22899232

-ACO2chr22

41903795

+
Frame-shitENST00000398741ENST00000396512PRAMEchr22

22899232

-ACO2chr22

41903795

+
5CDS-intronENST00000398741ENST00000466237PRAMEchr22

22899232

-ACO2chr22

41903795

+
Frame-shitENST00000543184ENST00000216254PRAMEchr22

22899232

-ACO2chr22

41903795

+
Frame-shitENST00000543184ENST00000396512PRAMEchr22

22899232

-ACO2chr22

41903795

+
5CDS-intronENST00000543184ENST00000466237PRAMEchr22

22899232

-ACO2chr22

41903795

+
Frame-shitENST00000405655ENST00000216254PRAMEchr22

22899232

-ACO2chr22

41903795

+
Frame-shitENST00000405655ENST00000396512PRAMEchr22

22899232

-ACO2chr22

41903795

+
5CDS-intronENST00000405655ENST00000466237PRAMEchr22

22899232

-ACO2chr22

41903795

+
intron-3CDSENST00000539862ENST00000216254PRAMEchr22

22899232

-ACO2chr22

41903795

+
intron-3CDSENST00000539862ENST00000396512PRAMEchr22

22899232

-ACO2chr22

41903795

+
intron-intronENST00000539862ENST00000466237PRAMEchr22

22899232

-ACO2chr22

41903795

+
Frame-shitENST00000402697ENST00000216254PRAMEchr22

22899232

-ACO2chr22

41903795

+
Frame-shitENST00000402697ENST00000396512PRAMEchr22

22899232

-ACO2chr22

41903795

+
5CDS-intronENST00000402697ENST00000466237PRAMEchr22

22899232

-ACO2chr22

41903795

+
intron-3CDSENST00000424204ENST00000216254PRAMEchr22

22899232

-ACO2chr22

41903795

+
intron-3CDSENST00000424204ENST00000396512PRAMEchr22

22899232

-ACO2chr22

41903795

+
intron-intronENST00000424204ENST00000466237PRAMEchr22

22899232

-ACO2chr22

41903795

+
intron-3CDSENST00000485532ENST00000216254PRAMEchr22

22899232

-ACO2chr22

41903795

+
intron-3CDSENST00000485532ENST00000396512PRAMEchr22

22899232

-ACO2chr22

41903795

+
intron-intronENST00000485532ENST00000466237PRAMEchr22

22899232

-ACO2chr22

41903795

+
Frame-shitENST00000406503ENST00000216254PRAMEchr22

22899232

-ACO2chr22

41903795

+
Frame-shitENST00000406503ENST00000396512PRAMEchr22

22899232

-ACO2chr22

41903795

+
5CDS-intronENST00000406503ENST00000466237PRAMEchr22

22899232

-ACO2chr22

41903795

+

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FusionProtFeatures for PRAME_ACO2


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

P78395

ACO2

Q99798

Functions as a transcriptional repressor, inhibiting thesignaling of retinoic acid through the retinoic acid receptorsRARA, RARB and RARG. Prevents retinoic acid-induced cellproliferation arrest, differentiation and apoptosis.{ECO:0000269|PubMed:16179254}. Catalyzes the isomerization of citrate to isocitrate viacis-aconitate. {ECO:0000250|UniProtKB:P16276}.

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 PRAME_ACO2


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 PRAME_ACO2


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
PRAMESTK19, CUL2, TCEB1, TCEB2, RBX1, KDM1A, BAG2, HNRNPC, UBL4A, SNRPB, RPL10, HNRNPH1, RFC4, RPL22, PSMC4, HNRNPM, HNRNPF, RPS13, PRAME, LAGE3, OSGEP, TP53RK, TPRKB, RARA, HIST2H2BE, HIST4H4, HIST2H2AC, HIST3H3, FBXL12, XRN2, ZNF408, MOV10, UBC, MLST8, QTRT1, PARK2, ZNF562, IFT81, COPS2, NOL11, AZIN2, EEF1D, SIRT6, PDDC1, NPY2R, FSCN3, FOXD4, DAAM2, CCDC28BACO2SRRM2, PSMD4, ATXN1L, APP, AK3, ACAT1, SIN3A, ACAA2, VCAM1, ITGA4, ASB9, CKB, IDH3A, IDH3G, MYH7B, SOD2, ALDH5A1, ALDOA, ALDOC, ATP1B1, ATP5F1, ATP5J, ESD, GPD1, GPD1L, GPD2, PITPNB, VAPA, NTRK1, SOD1, TRIM25


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 PRAME_ACO2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PRAME_ACO2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRAMEC0007131Non-Small Cell Lung Carcinoma1CTD_human
HgenePRAMEC0007134Renal Cell Carcinoma1CTD_human
HgenePRAMEC0018671Head and Neck Neoplasms1CTD_human
HgenePRAMEC0023418leukemia1CTD_human
HgenePRAMEC0023473Myeloid Leukemia, Chronic1CTD_human
HgenePRAMEC0025149Medulloblastoma1CTD_human
HgenePRAMEC0025202melanoma1CTD_human
HgenePRAMEC0026764Multiple Myeloma1CTD_human
HgenePRAMEC1261473Sarcoma1CTD_human
TgeneACO2C3281192INFANTILE CEREBELLAR-RETINAL DEGENERATION2ORPHANET;UNIPROT
TgeneACO2C0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneACO2C2239176Liver carcinoma1CTD_human
TgeneACO2C4225384OPTIC ATROPHY 91UNIPROT