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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: 404

FusionGeneSummary for ACO2_C1QTNF7

check button Fusion gene summary
Fusion gene informationFusion gene name: ACO2_C1QTNF7
Fusion gene ID: 404
HgeneTgene
Gene symbol

ACO2

C1QTNF7

Gene ID

50

114905

Gene nameaconitase 2C1q and TNF related 7
SynonymsACONM|HEL-S-284|ICRD|OCA8|OPA9CTRP7|ZACRP7
Cytomap

22q13.2

4p15.32

Type of geneprotein-codingprotein-coding
Descriptionaconitate hydratase, mitochondrialaconitase 2, mitochondrialcitrate hydro-lyaseepididymis secretory sperm binding protein Li 284mitochondrial aconitasecomplement C1q tumor necrosis factor-related protein 7C1q and tumor necrosis factor related protein 7complement-c1q tumor necrosis factor-related protein 7
Modification date2018052320180519
UniProtAcc

Q99798

Q9BXJ2

Ensembl transtripts involved in fusion geneENST00000216254, ENST00000396512, 
ENST00000466237, 
ENST00000295297, 
ENST00000510958, ENST00000429690, 
ENST00000444304, 
Fusion gene scores* DoF score12 X 4 X 8=3841 X 1 X 1=1
# samples 121
** MAII scorelog2(12/384*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: ACO2 [Title/Abstract] AND C1QTNF7 [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
HgeneACO2

GO:0006099

tricarboxylic acid cycle

9630632

HgeneACO2

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
TCGALDSKCMTCGA-EE-A2ME-06AACO2chr22

41865186

+C1QTNF7chr4

15437360

+
* 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-shiftENST00000216254ENST00000295297ACO2chr22

41865186

+C1QTNF7chr4

15437360

+
5CDS-intronENST00000216254ENST00000510958ACO2chr22

41865186

+C1QTNF7chr4

15437360

+
5CDS-5UTRENST00000216254ENST00000429690ACO2chr22

41865186

+C1QTNF7chr4

15437360

+
5CDS-5UTRENST00000216254ENST00000444304ACO2chr22

41865186

+C1QTNF7chr4

15437360

+
Frame-shiftENST00000396512ENST00000295297ACO2chr22

41865186

+C1QTNF7chr4

15437360

+
5CDS-intronENST00000396512ENST00000510958ACO2chr22

41865186

+C1QTNF7chr4

15437360

+
5CDS-5UTRENST00000396512ENST00000429690ACO2chr22

41865186

+C1QTNF7chr4

15437360

+
5CDS-5UTRENST00000396512ENST00000444304ACO2chr22

41865186

+C1QTNF7chr4

15437360

+
intron-3CDSENST00000466237ENST00000295297ACO2chr22

41865186

+C1QTNF7chr4

15437360

+
intron-intronENST00000466237ENST00000510958ACO2chr22

41865186

+C1QTNF7chr4

15437360

+
intron-5UTRENST00000466237ENST00000429690ACO2chr22

41865186

+C1QTNF7chr4

15437360

+
intron-5UTRENST00000466237ENST00000444304ACO2chr22

41865186

+C1QTNF7chr4

15437360

+

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FusionProtFeatures for ACO2_C1QTNF7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACO2

Q99798

C1QTNF7

Q9BXJ2

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 ACO2_C1QTNF7


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 ACO2_C1QTNF7


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
ACO2SRRM2, 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, TRIM25C1QTNF7BAG3


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 ACO2_C1QTNF7


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 ACO2_C1QTNF7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACO2C3281192INFANTILE CEREBELLAR-RETINAL DEGENERATION2ORPHANET;UNIPROT
HgeneACO2C0035222Respiratory Distress Syndrome, Adult1CTD_human
HgeneACO2C2239176Liver carcinoma1CTD_human
HgeneACO2C4225384OPTIC ATROPHY 91UNIPROT