FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 12448

FusionGeneSummary for FAM102A_ARFGEF2

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM102A_ARFGEF2
Fusion gene ID: 12448
HgeneTgene
Gene symbol

FAM102A

ARFGEF2

Gene ID

399665

10564

Gene namefamily with sequence similarity 102 member AADP ribosylation factor guanine nucleotide exchange factor 2
SynonymsC9orf132|EEIG1|SYM-3A|bA203J24.7BIG2|PVNH2|dJ1164I10.1
Cytomap

9q34.11

20q13.13

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM102AC230093N12Rikearly estrogen-induced gene 1 proteinsym-3 homolog Abrefeldin A-inhibited guanine nucleotide-exchange protein 2ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)brefeldin A-inhibited GEP 2
Modification date2018051920180523
UniProtAcc

Q5T9C2

Q9Y6D5

Ensembl transtripts involved in fusion geneENST00000373095, ENST00000373084, 
ENST00000300434, 
ENST00000371917, 
ENST00000493140, 
Fusion gene scores* DoF score7 X 4 X 7=19637 X 5 X 14=2590
# samples 840
** MAII scorelog2(8/196*10)=-1.29278174922785
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: FAM102A [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
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
TCGARVHNSCTCGA-CV-A460-01AFAM102Achr9

130703160

-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
intron-intronENST00000373095ENST00000371917FAM102Achr9

130703160

-ARFGEF2chr20

47615777

+
intron-intronENST00000373095ENST00000493140FAM102Achr9

130703160

-ARFGEF2chr20

47615777

+
5CDS-intronENST00000373084ENST00000371917FAM102Achr9

130703160

-ARFGEF2chr20

47615777

+
5CDS-intronENST00000373084ENST00000493140FAM102Achr9

130703160

-ARFGEF2chr20

47615777

+
5CDS-intronENST00000300434ENST00000371917FAM102Achr9

130703160

-ARFGEF2chr20

47615777

+
5CDS-intronENST00000300434ENST00000493140FAM102Achr9

130703160

-ARFGEF2chr20

47615777

+

Top

FusionProtFeatures for FAM102A_ARFGEF2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM102A

Q5T9C2

ARFGEF2

Q9Y6D5

May play a role in estrogen action.{ECO:0000269|PubMed:14605097}. 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


Top

FusionGeneSequence for FAM102A_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).

Top

FusionGenePPI for FAM102A_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
FAM102ASH3GL1, SKAP1, ENKD1, NUP160, SERPINB8, TRIM25ARFGEF2FKBP2, 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


Top

RelatedDrugs for FAM102A_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

Top

RelatedDiseases for FAM102A_ARFGEF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource