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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: 2230

FusionGeneSummary for APOL3_COL6A3

check button Fusion gene summary
Fusion gene informationFusion gene name: APOL3_COL6A3
Fusion gene ID: 2230
HgeneTgene
Gene symbol

APOL3

COL6A3

Gene ID

80833

1293

Gene nameapolipoprotein L3collagen type VI alpha 3 chain
SynonymsAPOLIII|CG121|CG12_1|apoL-IIIBTHLM1|DYT27|UCMD1
Cytomap

22q12.3

2q37.3

Type of geneprotein-codingprotein-coding
Descriptionapolipoprotein L3TNF-inducible protein CG12-1apolipoprotein L, 3apolipoprotein L-IIIapolipoprotein L-III splice variant alphaapolipoprotein L-III splice variant betacollagen alpha-3(VI) chaincollagen VI, alpha-3 polypeptidecollagen, type VI, alpha 3
Modification date2018052320180523
UniProtAcc

O95236

P12111

Ensembl transtripts involved in fusion geneENST00000397293, ENST00000424878, 
ENST00000349314, ENST00000361710, 
ENST00000397287, ENST00000487423, 
ENST00000347401, ENST00000353578, 
ENST00000295550, ENST00000472056, 
ENST00000409809, ENST00000346358, 
ENST00000392004, ENST00000392003, 
ENST00000473258, 
Fusion gene scores* DoF score1 X 1 X 1=18 X 8 X 2=128
# samples 18
** MAII scorelog2(1/1*10)=3.32192809488736log2(8/128*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: APOL3 [Title/Abstract] AND COL6A3 [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
ChiTaRS3.1AW818488APOL3chr22

36537069

-COL6A3chr2

238232843

+
* 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-3UTRENST00000397293ENST00000347401APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000397293ENST00000353578APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000397293ENST00000295550APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000397293ENST00000472056APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000397293ENST00000409809APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000397293ENST00000346358APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000397293ENST00000392004APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000397293ENST00000392003APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-5UTRENST00000397293ENST00000473258APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000424878ENST00000347401APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000424878ENST00000353578APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000424878ENST00000295550APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000424878ENST00000472056APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000424878ENST00000409809APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000424878ENST00000346358APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000424878ENST00000392004APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000424878ENST00000392003APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-5UTRENST00000424878ENST00000473258APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000349314ENST00000347401APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000349314ENST00000353578APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000349314ENST00000295550APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000349314ENST00000472056APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000349314ENST00000409809APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000349314ENST00000346358APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000349314ENST00000392004APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000349314ENST00000392003APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-5UTRENST00000349314ENST00000473258APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000361710ENST00000347401APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000361710ENST00000353578APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000361710ENST00000295550APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000361710ENST00000472056APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000361710ENST00000409809APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000361710ENST00000346358APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000361710ENST00000392004APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000361710ENST00000392003APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-5UTRENST00000361710ENST00000473258APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000397287ENST00000347401APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000397287ENST00000353578APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000397287ENST00000295550APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000397287ENST00000472056APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000397287ENST00000409809APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000397287ENST00000346358APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000397287ENST00000392004APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000397287ENST00000392003APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-5UTRENST00000397287ENST00000473258APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000487423ENST00000347401APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000487423ENST00000353578APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000487423ENST00000295550APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-3UTRENST00000487423ENST00000472056APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000487423ENST00000409809APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000487423ENST00000346358APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000487423ENST00000392004APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-intronENST00000487423ENST00000392003APOL3chr22

36537069

-COL6A3chr2

238232843

+
intron-5UTRENST00000487423ENST00000473258APOL3chr22

36537069

-COL6A3chr2

238232843

+

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FusionProtFeatures for APOL3_COL6A3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
APOL3

O95236

COL6A3

P12111

May affect the movement of lipids in the cytoplasm orallow the binding of lipids to organelles.

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 APOL3_COL6A3


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 APOL3_COL6A3


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 APOL3_COL6A3


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 APOL3_COL6A3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCOL6A3C1834674Bethlem myopathy4CTD_human;ORPHANET;UNIPROT
TgeneCOL6A3C0000786Spontaneous abortion1CTD_human
TgeneCOL6A3C0410179Scleroatonic muscular dystrophy1CTD_human;ORPHANET;UNIPROT
TgeneCOL6A3C4225336DYSTONIA 271ORPHANET;UNIPROT