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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: 9537

FusionGeneSummary for DDR2_GAB1

check button Fusion gene summary
Fusion gene informationFusion gene name: DDR2_GAB1
Fusion gene ID: 9537
HgeneTgene
Gene symbol

DDR2

GAB1

Gene ID

4921

128869

Gene namediscoidin domain receptor tyrosine kinase 2phosphatidylinositol glycan anchor biosynthesis class U
SynonymsMIG20a|NTRKR3|TKT|TYRO10CDC91L1|GAB1
Cytomap

1q23.3

20q11.22

Type of geneprotein-codingprotein-coding
Descriptiondiscoidin domain-containing receptor 2CD167 antigen-like family member Bcell migration-inducing protein 20discoidin domain receptor 2discoidin domain receptor family, member 2discoidin domain-containing receptor tyrosine kinase 2hydroxyaryl-protein phosphatidylinositol glycan anchor biosynthesis class U proteinCDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1GPI transamidase component PIG-UGPI transamidase subunitcell division cycle 91-like 1 proteincell division cycle protein 91-li
Modification date2018052320180523
UniProtAcc

Q16832

Q13480

Ensembl transtripts involved in fusion geneENST00000367922, ENST00000367921, 
ENST00000262995, ENST00000262994, 
ENST00000505913, ENST00000515388, 
Fusion gene scores* DoF score5 X 3 X 5=756 X 4 X 4=96
# samples 56
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DDR2 [Title/Abstract] AND GAB1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneDDR2

GO:0018108

peptidyl-tyrosine phosphorylation

20004161

HgeneDDR2

GO:0038063

collagen-activated tyrosine kinase receptor signaling pathway

16186108

HgeneDDR2

GO:0046777

protein autophosphorylation

16186108

TgeneGAB1

GO:0006506

GPI anchor biosynthetic process

15034568

TgeneGAB1

GO:0046425

regulation of JAK-STAT cascade

15034568


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
TCGALDBRCATCGA-BH-A18V-01ADDR2chr1

162688935

+GAB1chr4

144336630

+
* 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-shiftENST00000367922ENST00000262995DDR2chr1

162688935

+GAB1chr4

144336630

+
Frame-shiftENST00000367922ENST00000262994DDR2chr1

162688935

+GAB1chr4

144336630

+
5CDS-5UTRENST00000367922ENST00000505913DDR2chr1

162688935

+GAB1chr4

144336630

+
5CDS-intronENST00000367922ENST00000515388DDR2chr1

162688935

+GAB1chr4

144336630

+
Frame-shiftENST00000367921ENST00000262995DDR2chr1

162688935

+GAB1chr4

144336630

+
Frame-shiftENST00000367921ENST00000262994DDR2chr1

162688935

+GAB1chr4

144336630

+
5CDS-5UTRENST00000367921ENST00000505913DDR2chr1

162688935

+GAB1chr4

144336630

+
5CDS-intronENST00000367921ENST00000515388DDR2chr1

162688935

+GAB1chr4

144336630

+

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FusionProtFeatures for DDR2_GAB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DDR2

Q16832

GAB1

Q13480

Tyrosine kinase that functions as cell surface receptorfor fibrillar collagen and regulates cell differentiation,remodeling of the extracellular matrix, cell migration and cellproliferation. Required for normal bone development. Regulatesosteoblast differentiation and chondrocyte maturation via asignaling pathway that involves MAP kinases and leads to theactivation of the transcription factor RUNX2. Regulates remodelingof the extracellular matrix by up-regulation of the collagenasesMMP1, MMP2 and MMP13, and thereby facilitates cell migration andtumor cell invasion. Promotes fibroblast migration andproliferation, and thereby contributes to cutaneous wound healing.{ECO:0000269|PubMed:16186104, ECO:0000269|PubMed:16186108,ECO:0000269|PubMed:17665456, ECO:0000269|PubMed:18201965,ECO:0000269|PubMed:20004161, ECO:0000269|PubMed:20564243,ECO:0000269|PubMed:20734453, ECO:0000269|PubMed:9659899}. Adapter protein that plays a role in intracellularsignaling cascades triggered by activated receptor-type kinases.Plays a role in FGFR1 signaling. Probably involved in signaling bythe epidermal growth factor receptor (EGFR) and the insulinreceptor (INSR).

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 DDR2_GAB1


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 DDR2_GAB1


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
DDR2SHC1, SRC, ELAVL1, HSP90AA1, CBLB, CDH1, CDH2, NTRK1, CHORDC1, GOLT1BGAB1GRAP2, ARHGAP32, ROCK1, PIK3R1, GRB2, PLCG1, C1QBP, MAP3K3, PTPN11, EGFR, CRKL, MET, SHC1, CRK, MARK2, PRKCI, PARD3, MST1R, GAB2, BAG3, GTF2A1L, CASP1, NTRK1, DYNLT1, TRIM15, FRS2, CDH1, PTPRA, LGALS7, TUFM, ARL4C, SYP, ERBB2


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 DDR2_GAB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneDDR2Q16832DB08896RegorafenibDiscoidin domain-containing receptor 2small moleculeapproved

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RelatedDiseases for DDR2_GAB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDDR2C1849011SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE2CTD_human;ORPHANET;UNIPROT
HgeneDDR2C0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneGAB1C0032460Polycystic Ovary Syndrome1CTD_human