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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: 14497

FusionGeneSummary for GBX1_COL4A6

check button Fusion gene summary
Fusion gene informationFusion gene name: GBX1_COL4A6
Fusion gene ID: 14497
HgeneTgene
Gene symbol

GBX1

COL4A6

Gene ID

2636

1288

Gene namegastrulation brain homeobox 1collagen type IV alpha 6 chain
SynonymsHuh-17CXDELq22.3|DELXq22.3|DFNX6
Cytomap

7q36.1

Xq22.3

Type of geneprotein-codingprotein-coding
Descriptionhomeobox protein GBX-1gastrulation and brain-specific homeobox protein 1collagen alpha-6(IV) chaincollagen IV, alpha-6 polypeptidecollagen of basement membrane, alpha-6collagen, type IV, alpha 6dJ889N15.4 (Collagen Alpha 6(IV))
Modification date2018040320180523
UniProtAcc

Q14549

Q14031

Ensembl transtripts involved in fusion geneENST00000297537, ENST00000475831, 
ENST00000334504, ENST00000372216, 
ENST00000394872, ENST00000538570, 
ENST00000545689, ENST00000461897, 
ENST00000418180, 
Fusion gene scores* DoF score2 X 2 X 2=81 X 1 X 1=1
# samples 21
** MAII scorelog2(2/8*10)=1.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: GBX1 [Title/Abstract] AND COL4A6 [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

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
ChiTaRS3.1CR747029GBX1chr7

150845989

-COL4A6chrX

107666051

-
* 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-intronENST00000297537ENST00000334504GBX1chr7

150845989

-COL4A6chrX

107666051

-
intron-intronENST00000297537ENST00000372216GBX1chr7

150845989

-COL4A6chrX

107666051

-
intron-intronENST00000297537ENST00000394872GBX1chr7

150845989

-COL4A6chrX

107666051

-
intron-intronENST00000297537ENST00000538570GBX1chr7

150845989

-COL4A6chrX

107666051

-
intron-intronENST00000297537ENST00000545689GBX1chr7

150845989

-COL4A6chrX

107666051

-
intron-intronENST00000297537ENST00000461897GBX1chr7

150845989

-COL4A6chrX

107666051

-
intron-intronENST00000297537ENST00000418180GBX1chr7

150845989

-COL4A6chrX

107666051

-
intron-intronENST00000475831ENST00000334504GBX1chr7

150845989

-COL4A6chrX

107666051

-
intron-intronENST00000475831ENST00000372216GBX1chr7

150845989

-COL4A6chrX

107666051

-
intron-intronENST00000475831ENST00000394872GBX1chr7

150845989

-COL4A6chrX

107666051

-
intron-intronENST00000475831ENST00000538570GBX1chr7

150845989

-COL4A6chrX

107666051

-
intron-intronENST00000475831ENST00000545689GBX1chr7

150845989

-COL4A6chrX

107666051

-
intron-intronENST00000475831ENST00000461897GBX1chr7

150845989

-COL4A6chrX

107666051

-
intron-intronENST00000475831ENST00000418180GBX1chr7

150845989

-COL4A6chrX

107666051

-

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FusionProtFeatures for GBX1_COL4A6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GBX1

Q14549

COL4A6

Q14031


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 GBX1_COL4A6


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 GBX1_COL4A6


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


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 GBX1_COL4A6


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 GBX1_COL4A6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCOL4A6C0000786Spontaneous abortion1CTD_human
TgeneCOL4A6C0086533Leiomyoma, Epithelioid1CTD_human
TgeneCOL4A6C3806737DEAFNESS, X-LINKED 61UNIPROT