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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: 10045

FusionGeneSummary for DIXDC1_GAB2

check button Fusion gene summary
Fusion gene informationFusion gene name: DIXDC1_GAB2
Fusion gene ID: 10045
HgeneTgene
Gene symbol

DIXDC1

GAB2

Gene ID

85458

9846

Gene nameDIX domain containing 1GRB2 associated binding protein 2
SynonymsCCD1-
Cytomap

11q23.1

11q14.1

Type of geneprotein-codingprotein-coding
Descriptiondixincoiled-coil protein DIX1GRB2-associated-binding protein 2Grb2-associated binder 2growth factor receptor bound protein 2-associated protein 2pp100
Modification date2018052320180527
UniProtAcc

Q155Q3

Q9UQC2

Ensembl transtripts involved in fusion geneENST00000529225, ENST00000440460, 
ENST00000389821, ENST00000531396, 
ENST00000315253, 
ENST00000340149, 
ENST00000361507, ENST00000526030, 
Fusion gene scores* DoF score5 X 4 X 4=8011 X 6 X 3=198
# samples 614
** MAII scorelog2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/198*10)=-0.500073603134643
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DIXDC1 [Title/Abstract] AND GAB2 [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
HgeneDIXDC1

GO:0090263

positive regulation of canonical Wnt signaling pathway

21189423

TgeneGAB2

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-A0SO-01ADIXDC1chr11

111808283

+GAB2chr11

77991947

-
* 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-5UTRENST00000529225ENST00000340149DIXDC1chr11

111808283

+GAB2chr11

77991947

-
intron-5UTRENST00000529225ENST00000361507DIXDC1chr11

111808283

+GAB2chr11

77991947

-
intron-5UTRENST00000529225ENST00000526030DIXDC1chr11

111808283

+GAB2chr11

77991947

-
5CDS-5UTRENST00000440460ENST00000340149DIXDC1chr11

111808283

+GAB2chr11

77991947

-
5CDS-5UTRENST00000440460ENST00000361507DIXDC1chr11

111808283

+GAB2chr11

77991947

-
5CDS-5UTRENST00000440460ENST00000526030DIXDC1chr11

111808283

+GAB2chr11

77991947

-
3UTR-5UTRENST00000389821ENST00000340149DIXDC1chr11

111808283

+GAB2chr11

77991947

-
3UTR-5UTRENST00000389821ENST00000361507DIXDC1chr11

111808283

+GAB2chr11

77991947

-
3UTR-5UTRENST00000389821ENST00000526030DIXDC1chr11

111808283

+GAB2chr11

77991947

-
5CDS-5UTRENST00000531396ENST00000340149DIXDC1chr11

111808283

+GAB2chr11

77991947

-
5CDS-5UTRENST00000531396ENST00000361507DIXDC1chr11

111808283

+GAB2chr11

77991947

-
5CDS-5UTRENST00000531396ENST00000526030DIXDC1chr11

111808283

+GAB2chr11

77991947

-
intron-5UTRENST00000315253ENST00000340149DIXDC1chr11

111808283

+GAB2chr11

77991947

-
intron-5UTRENST00000315253ENST00000361507DIXDC1chr11

111808283

+GAB2chr11

77991947

-
intron-5UTRENST00000315253ENST00000526030DIXDC1chr11

111808283

+GAB2chr11

77991947

-

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FusionProtFeatures for DIXDC1_GAB2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DIXDC1

Q155Q3

GAB2

Q9UQC2

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}.

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 DIXDC1_GAB2


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 DIXDC1_GAB2


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
DIXDC1CDC5L, NDEL1, APP, ATXN1, ULK2, ZDHHC17, L3HYPDH, CAPZA2, DBN1, FLNA, MYH9, MYO1C, EGFRGAB2BCR, 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, RAB3IP


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 DIXDC1_GAB2


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 DIXDC1_GAB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDIXDC1C0003469Anxiety Disorders1CTD_human
HgeneDIXDC1C0004352Autistic Disorder1CTD_human
HgeneDIXDC1C0005586Bipolar Disorder1CTD_human
HgeneDIXDC1C0011581Depressive disorder1CTD_human
HgeneDIXDC1C0036341Schizophrenia1CTD_human
TgeneGAB2C0025202melanoma1CTD_human
TgeneGAB2C0027626Neoplasm Invasiveness1CTD_human
TgeneGAB2C0027627Neoplasm Metastasis1CTD_human