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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: 1501

FusionGeneSummary for ALDOA_ARFGEF2

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDOA_ARFGEF2
Fusion gene ID: 1501
HgeneTgene
Gene symbol

ALDOA

ARFGEF2

Gene ID

226

10564

Gene namealdolase, fructose-bisphosphate AADP ribosylation factor guanine nucleotide exchange factor 2
SynonymsALDA|GSD12|HEL-S-87pBIG2|PVNH2|dJ1164I10.1
Cytomap

16p11.2

20q13.13

Type of geneprotein-codingprotein-coding
Descriptionfructose-bisphosphate aldolase Aaldolase A, fructose-bisphosphateepididymis secretory sperm binding protein Li 87pfructose-1,6-bisphosphate triosephosphate-lyaselung cancer antigen NY-LU-1muscle-type aldolasebrefeldin A-inhibited guanine nucleotide-exchange protein 2ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)brefeldin A-inhibited GEP 2
Modification date2018052220180523
UniProtAcc

P04075

Q9Y6D5

Ensembl transtripts involved in fusion geneENST00000338110, ENST00000395248, 
ENST00000575627, ENST00000566897, 
ENST00000569545, ENST00000563060, 
ENST00000412304, ENST00000564546, 
ENST00000564595, ENST00000569798, 
ENST00000395240, 
ENST00000371917, 
ENST00000493140, 
Fusion gene scores* DoF score17 X 7 X 10=119037 X 5 X 14=2590
# samples 2040
** MAII scorelog2(20/1190*10)=-2.57288966842058
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(40/2590*10)=-2.69488019279919
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALDOA [Title/Abstract] AND ARFGEF2 [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
HgeneALDOA

GO:0008360

regulation of cell shape

9244396

HgeneALDOA

GO:0030388

fructose 1,6-bisphosphate metabolic process

9244396|14766013

TgeneARFGEF2

GO:0001881

receptor recycling

16477018

TgeneARFGEF2

GO:0035556

intracellular signal transduction

12571360


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
TCGARVTHCATCGA-J8-A3O2-06AALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
* 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
5CDS-intronENST00000338110ENST00000371917ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
5CDS-intronENST00000338110ENST00000493140ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
3UTR-intronENST00000395248ENST00000371917ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
3UTR-intronENST00000395248ENST00000493140ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
intron-intronENST00000575627ENST00000371917ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
intron-intronENST00000575627ENST00000493140ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
5CDS-intronENST00000566897ENST00000371917ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
5CDS-intronENST00000566897ENST00000493140ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
intron-intronENST00000569545ENST00000371917ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
intron-intronENST00000569545ENST00000493140ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
5CDS-intronENST00000563060ENST00000371917ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
5CDS-intronENST00000563060ENST00000493140ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
5CDS-intronENST00000412304ENST00000371917ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
5CDS-intronENST00000412304ENST00000493140ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
3UTR-intronENST00000564546ENST00000371917ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
3UTR-intronENST00000564546ENST00000493140ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
5CDS-intronENST00000564595ENST00000371917ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
5CDS-intronENST00000564595ENST00000493140ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
intron-intronENST00000569798ENST00000371917ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
intron-intronENST00000569798ENST00000493140ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
intron-intronENST00000395240ENST00000371917ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+
intron-intronENST00000395240ENST00000493140ALDOAchr16

30081734

+ARFGEF2chr20

47615777

+

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FusionProtFeatures for ALDOA_ARFGEF2


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

P04075

ARFGEF2

Q9Y6D5

Plays a key role in glycolysis and gluconeogenesis. Inaddition, may also function as scaffolding protein (Bysimilarity). {ECO:0000250}. Promotes guanine-nucleotide exchange on ARF1 and ARF3and to a lower extent on ARF5 and ARF6. Promotes the activation ofARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved inthe regulation of Golgi vesicular transport. Required for theintegrity of the endosomal compartment. Involved in traffickingfrom the trans-Golgi network (TGN) to endosomes and is requiredfor membrane association of the AP-1 complex and GGA1. Seems to beinvolved in recycling of the transferrin receptor from recyclingendosomes to the plasma membrane. Probably is involved in the exitof GABA(A) receptors from the endoplasmic reticulum. Involved inconstitutive release of tumor necrosis factor receptor 1 viaexosome-like vesicles; the function seems to involve PKA andspecifically PRKAR2B. Proposed to act as A kinase-anchoringprotein (AKAP) and may mediate crosstalk between Arf and PKApathways. {ECO:0000269|PubMed:12051703,ECO:0000269|PubMed:12571360, ECO:0000269|PubMed:15385626,ECO:0000269|PubMed:16477018, ECO:0000269|PubMed:17276987,ECO:0000269|PubMed:18625701, ECO:0000269|PubMed:20360857}.

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 ALDOA_ARFGEF2


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 ALDOA_ARFGEF2


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
ALDOAXRN1, FANCA, ATP6V1E1, PLD2, USP15, OSBPL10, EGFR, TRIM63, PSMD4, H2AFX, CACNA1A, HDAC5, PCNA, PSMA3, MYC, ISG15, TERF1, CUL3, CUL4B, CUL2, CDK2, MYOC, AKT1, PGK1, ALDOC, HSPD1, LGALS1, LIG4, HSP90AA1, HSP90AB1, VCAM1, FN1, ATF2, IQCB1, MLH1, VCPKMT, ITGA4, RAD52, ALDOB, ALDOA, BCAT2, GALNT6, PIAS4, CS, TNPO3, ADRB2, HUWE1, FUS, IFNA4, SUZ12, HNRNPA1, ACAA2, ACTN4, ACO2, ADI1, ARHGDIA, ASS1, CFL1, COX4I1, ECHS1, FKBP2, GPD1L, GPX4, HSD17B10, IMPA2, ISYNA1, LMAN1, MAP2K7, MYH7B, PKM, SUMO2, TAGLN, TAGLN2, TKT, TRAP1, ATP5J, CKB, CKMT1B, CKMT1A, CKMT2, DUT, ENO1, FABP5, FH, FKBP7, GAPDH, GLO1, HSPE1, KCNAB2, LDHA, LTA4H, NDUFS4, PGAM2, PREP, SOD2, SUMO4, TALDO1, UMPS, NTRK1, HSPB2, SRPK2, AHSA1, CDK2AP1, NCSTN, NCAPH, VPS18, DRC1, MCM2, CDC73, CDH1, CARM1, DNM1L, SOAT1, SOD1, TRIM25, BRCA1ARFGEF2FKBP2, PRKAR1A, PRKAR2A, ARFGEF1, MYC, VCP, PRPF40A, PNPLA2, CDC73, FLNC, NUP98, NUP88, PAF1, SPACA1, TMEM171, CSGALNACT1, DNAJB2, HLA-B, SDF4, CD244, SLAMF1, DTNBP1, HLA-E, LDLRAD4, ANKMY2, SNW1, FLNA, GYPB, LAMP3, FAM131B, MRAP2, CD79B, EDNRB, SIGLECL1, TMEM9B, MADCAM1, VASN, PDCD1, ICAM1, TRIM25, BRCA1


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 ALDOA_ARFGEF2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneALDOAP04075DB01593ZincFructose-bisphosphate aldolase Asmall moleculeapproved|investigational
HgeneALDOAP04075DB11638ArtenimolFructose-bisphosphate aldolase Asmall moleculeapproved|investigational

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RelatedDiseases for ALDOA_ARFGEF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALDOAC0272066Glycogen Storage Disease XII3CTD_human;ORPHANET;UNIPROT
HgeneALDOAC0027626Neoplasm Invasiveness1CTD_human
HgeneALDOAC0027627Neoplasm Metastasis1CTD_human
HgeneALDOAC0151744Myocardial Ischemia1CTD_human
HgeneALDOAC0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneALDOAC1458155Mammary Neoplasms1CTD_human