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Fusion gene ID: 28576 |
FusionGeneSummary for PRAME_ACO2 |
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Fusion gene information | Fusion gene name: PRAME_ACO2 | Fusion gene ID: 28576 | Hgene | Tgene | Gene symbol | PRAME | ACO2 | Gene ID | 23532 | 50 |
Gene name | preferentially expressed antigen in melanoma | aconitase 2 | |
Synonyms | CT130|MAPE|OIP-4|OIP4 | ACONM|HEL-S-284|ICRD|OCA8|OPA9 | |
Cytomap | 22q11.22 | 22q13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | melanoma antigen preferentially expressed in tumorsOpa-interacting protein OIP4cancer/testis antigen 130opa-interacting protein 4preferentially expressed antigen of melanoma | aconitate hydratase, mitochondrialaconitase 2, mitochondrialcitrate hydro-lyaseepididymis secretory sperm binding protein Li 284mitochondrial aconitase | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | P78395 | Q99798 | |
Ensembl transtripts involved in fusion gene | ENST00000398743, ENST00000398741, ENST00000543184, ENST00000405655, ENST00000539862, ENST00000402697, ENST00000424204, ENST00000485532, ENST00000406503, | ENST00000216254, ENST00000396512, ENST00000466237, | |
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 11 X 9 X 6=594 |
# samples | 2 | 12 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PRAME | GO:0008284 | positive regulation of cell proliferation | 16179254 |
Hgene | PRAME | GO:0043066 | negative regulation of apoptotic process | 16179254 |
Hgene | PRAME | GO:0045596 | negative regulation of cell differentiation | 16179254 |
Hgene | PRAME | GO:0045892 | negative regulation of transcription, DNA-templated | 16179254 |
Hgene | PRAME | GO:0048387 | negative regulation of retinoic acid receptor signaling pathway | 16179254 |
Tgene | ACO2 | GO:0006099 | tricarboxylic acid cycle | 9630632 |
Tgene | ACO2 | GO:0006101 | citrate metabolic process | 9630632 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | SKCM | TCGA-BF-A5EQ-01A | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000398743 | ENST00000216254 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000398743 | ENST00000396512 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
5CDS-intron | ENST00000398743 | ENST00000466237 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000398741 | ENST00000216254 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000398741 | ENST00000396512 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
5CDS-intron | ENST00000398741 | ENST00000466237 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000543184 | ENST00000216254 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000543184 | ENST00000396512 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
5CDS-intron | ENST00000543184 | ENST00000466237 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000405655 | ENST00000216254 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000405655 | ENST00000396512 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
5CDS-intron | ENST00000405655 | ENST00000466237 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
intron-3CDS | ENST00000539862 | ENST00000216254 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
intron-3CDS | ENST00000539862 | ENST00000396512 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
intron-intron | ENST00000539862 | ENST00000466237 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000402697 | ENST00000216254 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000402697 | ENST00000396512 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
5CDS-intron | ENST00000402697 | ENST00000466237 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
intron-3CDS | ENST00000424204 | ENST00000216254 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
intron-3CDS | ENST00000424204 | ENST00000396512 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
intron-intron | ENST00000424204 | ENST00000466237 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
intron-3CDS | ENST00000485532 | ENST00000216254 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
intron-3CDS | ENST00000485532 | ENST00000396512 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
intron-intron | ENST00000485532 | ENST00000466237 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000406503 | ENST00000216254 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
Frame-shift | ENST00000406503 | ENST00000396512 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
5CDS-intron | ENST00000406503 | ENST00000466237 | PRAME | chr22 | 22899232 | - | ACO2 | chr22 | 41903795 | + |
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FusionProtFeatures for PRAME_ACO2 |
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Hgene | Tgene |
PRAME | ACO2 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PRAME_ACO2 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PRAME | STK19, 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, CCDC28B | ACO2 | SRRM2, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PRAME_ACO2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PRAME_ACO2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PRAME | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
Hgene | PRAME | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Hgene | PRAME | C0018671 | Head and Neck Neoplasms | 1 | CTD_human |
Hgene | PRAME | C0023418 | leukemia | 1 | CTD_human |
Hgene | PRAME | C0023473 | Myeloid Leukemia, Chronic | 1 | CTD_human |
Hgene | PRAME | C0025149 | Medulloblastoma | 1 | CTD_human |
Hgene | PRAME | C0025202 | melanoma | 1 | CTD_human |
Hgene | PRAME | C0026764 | Multiple Myeloma | 1 | CTD_human |
Hgene | PRAME | C1261473 | Sarcoma | 1 | CTD_human |
Tgene | ACO2 | C3281192 | INFANTILE CEREBELLAR-RETINAL DEGENERATION | 2 | ORPHANET;UNIPROT |
Tgene | ACO2 | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
Tgene | ACO2 | C2239176 | Liver carcinoma | 1 | CTD_human |
Tgene | ACO2 | C4225384 | OPTIC ATROPHY 9 | 1 | UNIPROT |