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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: 14203

FusionGeneSummary for GAB2_PLXDC1

check button Fusion gene summary
Fusion gene informationFusion gene name: GAB2_PLXDC1
Fusion gene ID: 14203
HgeneTgene
Gene symbol

GAB2

PLXDC1

Gene ID

9846

57125

Gene nameGRB2 associated binding protein 2plexin domain containing 1
Synonyms-TEM3|TEM7
Cytomap

11q14.1

17q12

Type of geneprotein-codingprotein-coding
DescriptionGRB2-associated-binding protein 2Grb2-associated binder 2growth factor receptor bound protein 2-associated protein 2pp100plexin domain-containing protein 12410003I07Riktumor endothelial marker 3tumor endothelial marker 7
Modification date2018052720180519
UniProtAcc

Q9UQC2

Q8IUK5

Ensembl transtripts involved in fusion geneENST00000340149, ENST00000361507, 
ENST00000526030, 
ENST00000315392, 
ENST00000493200, ENST00000539608, 
ENST00000444911, ENST00000394316, 
Fusion gene scores* DoF score16 X 10 X 5=80011 X 5 X 6=330
# samples 1610
** MAII scorelog2(16/800*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/330*10)=-1.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GAB2 [Title/Abstract] AND PLXDC1 [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
HgeneGAB2

GO:0008284

positive regulation of cell proliferation

19172738


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
TCGARVBRCATCGA-A1-A0SM-01AGAB2chr11

78128692

-PLXDC1chr17

37296085

-
* 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-3CDSENST00000340149ENST00000315392GAB2chr11

78128692

-PLXDC1chr17

37296085

-
intron-intronENST00000340149ENST00000493200GAB2chr11

78128692

-PLXDC1chr17

37296085

-
intron-5UTRENST00000340149ENST00000539608GAB2chr11

78128692

-PLXDC1chr17

37296085

-
intron-intronENST00000340149ENST00000444911GAB2chr11

78128692

-PLXDC1chr17

37296085

-
intron-intronENST00000340149ENST00000394316GAB2chr11

78128692

-PLXDC1chr17

37296085

-
Frame-shitENST00000361507ENST00000315392GAB2chr11

78128692

-PLXDC1chr17

37296085

-
5CDS-intronENST00000361507ENST00000493200GAB2chr11

78128692

-PLXDC1chr17

37296085

-
5CDS-5UTRENST00000361507ENST00000539608GAB2chr11

78128692

-PLXDC1chr17

37296085

-
5CDS-intronENST00000361507ENST00000444911GAB2chr11

78128692

-PLXDC1chr17

37296085

-
5CDS-intronENST00000361507ENST00000394316GAB2chr11

78128692

-PLXDC1chr17

37296085

-
5UTR-3CDSENST00000526030ENST00000315392GAB2chr11

78128692

-PLXDC1chr17

37296085

-
5UTR-intronENST00000526030ENST00000493200GAB2chr11

78128692

-PLXDC1chr17

37296085

-
5UTR-5UTRENST00000526030ENST00000539608GAB2chr11

78128692

-PLXDC1chr17

37296085

-
5UTR-intronENST00000526030ENST00000444911GAB2chr11

78128692

-PLXDC1chr17

37296085

-
5UTR-intronENST00000526030ENST00000394316GAB2chr11

78128692

-PLXDC1chr17

37296085

-

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FusionProtFeatures for GAB2_PLXDC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GAB2

Q9UQC2

PLXDC1

Q8IUK5

Adapter protein which acts downstream of severalmembrane receptors including cytokine, antigen, hormone, cellmatrix and growth factor receptors to regulate multiple signalingpathways. Regulates osteoclast differentiation mediating theTNFRSF11A/RANK signaling. In allergic response, it plays a role inmast cells activation and degranulation through PI-3-kinaseregulation. Also involved in the regulation of cell proliferationand hematopoiesis. {ECO:0000269|PubMed:15750601,ECO:0000269|PubMed:19172738}. Plays a critical role in endothelial cell capillarymorphogenesis. {ECO:0000250}.

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 GAB2_PLXDC1


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 GAB2_PLXDC1


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
GAB2BCR, GRB2, ETV6, ARHGAP32, LYN, PLCG2, PTPN11, SHC1, ZAP70, CD247, LAT, PTPN6, PIK3R1, AKT1, GRAP, SRC, NCK1, PLCG1, CRKL, MET, GRAP2, LRRK1, PIK3R2, CRK, PIK3CB, MAPK1, MAPK3, MARK2, GAB1, GAB2, YWHAE, NTRK1, XPO1, FRS2, TGM4, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, LRFN1, DENND1A, SH3PXD2A, SRGAP2, EIF4E2, SIPA1L1, LIMA1, MAGI1, TESK2, DCLK1, ZNF638, SRSF12, RTKN, MAST3, SYDE1, PPM1H, AGAP1, CDC25B, CDK16, FAM110B, USP21, ANKRD34A, FAM53C, CGN, FAM110A, DENND4C, HDAC4, MAPKAP1, TBC1D25, NF1, NADK, CBY1, RAB3IPPLXDC1NRF1


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 GAB2_PLXDC1


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 GAB2_PLXDC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGAB2C0025202melanoma1CTD_human
HgeneGAB2C0027626Neoplasm Invasiveness1CTD_human
HgeneGAB2C0027627Neoplasm Metastasis1CTD_human