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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: 2135

FusionGeneSummary for APC2_GIGYF2

check button Fusion gene summary
Fusion gene informationFusion gene name: APC2_GIGYF2
Fusion gene ID: 2135
HgeneTgene
Gene symbol

APC2

GIGYF2

Gene ID

79085

26058

Gene namesolute carrier family 25 member 23GRB10 interacting GYF protein 2
SynonymsAPC2|MCSC2|SCaMC-3GYF2|PARK11|PERQ2|PERQ3|TNRC15
Cytomap

19p13.3

2q37.1

Type of geneprotein-codingprotein-coding
Descriptioncalcium-binding mitochondrial carrier protein SCaMC-3mitochondrial ATP-Mg/Pi carrier protein 2mitochondrial Ca(2+)-dependent solute carrier protein 2mitochondrial Ca2+-dependent solute carrier protein 2short calcium-binding mitochondrial carrier 3smaGRB10-interacting GYF protein 2PERQ amino acid rich, with GYF domain 3PERQ amino acid-rich with GYF domain-containing protein 2Parkinson disease (autosomal recessive, early onset) 11trinucleotide repeat-containing gene 15 protein
Modification date2018052320180522
UniProtAcc

O95996

Q6Y7W6

Ensembl transtripts involved in fusion geneENST00000238483, ENST00000233607, 
ENST00000535453, 
ENST00000373566, 
ENST00000373563, ENST00000409480, 
ENST00000409547, ENST00000409196, 
ENST00000409451, ENST00000482666, 
ENST00000452341, 
Fusion gene scores* DoF score1 X 1 X 1=110 X 12 X 4=480
# samples 113
** MAII scorelog2(1/1*10)=3.32192809488736log2(13/480*10)=-1.88452278258006
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: APC2 [Title/Abstract] AND GIGYF2 [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
TgeneGIGYF2

GO:0016441

posttranscriptional gene silencing

27157137

TgeneGIGYF2

GO:0061157

mRNA destabilization

27157137


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
TCGARVLGGTCGA-DH-5144-01AAPC2chr19

1473237

+GIGYF2chr2

233632812

+
* 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-intronENST00000238483ENST00000373566APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000238483ENST00000373563APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000238483ENST00000409480APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000238483ENST00000409547APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000238483ENST00000409196APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000238483ENST00000409451APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000238483ENST00000482666APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000238483ENST00000452341APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000233607ENST00000373566APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000233607ENST00000373563APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000233607ENST00000409480APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000233607ENST00000409547APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000233607ENST00000409196APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000233607ENST00000409451APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000233607ENST00000482666APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000233607ENST00000452341APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000535453ENST00000373566APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000535453ENST00000373563APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000535453ENST00000409480APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000535453ENST00000409547APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000535453ENST00000409196APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000535453ENST00000409451APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000535453ENST00000482666APC2chr19

1473237

+GIGYF2chr2

233632812

+
5CDS-intronENST00000535453ENST00000452341APC2chr19

1473237

+GIGYF2chr2

233632812

+

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FusionProtFeatures for APC2_GIGYF2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
APC2

O95996

GIGYF2

Q6Y7W6

Stabilizes microtubules and may regulate actin fiberdynamics through the activation of Rho family GTPases(PubMed:25753423). May also function in Wnt signaling by promotingthe rapid degradation of CTNNB1 (PubMed:10021369, PubMed:11691822,PubMed:9823329). {ECO:0000269|PubMed:10021369,ECO:0000269|PubMed:11691822, ECO:0000269|PubMed:25753423,ECO:0000269|PubMed:9823329}.

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 APC2_GIGYF2


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 APC2_GIGYF2


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
APC2ACTA1, AXIN2, CTNNB1, NFX1, TP53BP2GIGYF2GRB10, USP11, PRPF6, PRPF8, DDX20, SMN1, GEMIN4, U2AF2, U2AF1L4, SF3B2, ATN1, ELAVL1, YBX1, PABPC1, TNRC6B, FXR1, AGO2, G3BP1, CAPRIN1, APC, PCK1, SIRT7, DIS3L, HSP90AA1, EIF4E2, ZNF598, RQCD1, TARDBP, YWHAB, LGR4, AIRE, AURKB, CDKN1A, CEP250, CEP57, CEP76, EMD, LGALS3BP, MAGED2, TP53, TUBGCP3, VCP, HUWE1, CCDC8, BMI1, EXOSC7, WDR83, NTRK1, NINL, XPO1, RFX5, MCM2, MEX3C, CDH1, EGFR, MRPL12, C10orf88, NCAPH2, KCTD3, CGN, KIF13B, ZBTB21, KSR1, GIGYF1, RTKN, RALGPS2, MAST3, LRFN1, DENND1A, PPM1H, DENND4C, CDC25C, SH3PXD2A, SRGAP2, NF1, CBY1, LPIN3, SIPA1L1, CAMSAP2, HDAC4, NADK, LIMA1, MAGI1, TESK2, DCLK1, RASAL2, ZNF638, SH3RF3, OSBPL6, KIAA1804, MAPKAP1, TIAM1, KIF1C, PLEKHA7, PHLDB2, TANC2, PTPN13, NAV1, INPP5E, 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 APC2_GIGYF2


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 APC2_GIGYF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPC2C0009404Colorectal Neoplasms3CTD_human
HgeneAPC2C0021390Inflammatory Bowel Diseases1CTD_human
HgeneAPC2C1458155Mammary Neoplasms1CTD_human
TgeneGIGYF2C4083045PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO1CTD_human;UNIPROT