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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: 2086

FusionGeneSummary for AP3D1_COL19A1

check button Fusion gene summary
Fusion gene informationFusion gene name: AP3D1_COL19A1
Fusion gene ID: 2086
HgeneTgene
Gene symbol

AP3D1

COL19A1

Gene ID

8943

1310

Gene nameadaptor related protein complex 3 subunit delta 1collagen type XIX alpha 1 chain
SynonymsADTD|HPS10|hBLVRCOL9A1L|D6S228E
Cytomap

19p13.3

6q13

Type of geneprotein-codingprotein-coding
DescriptionAP-3 complex subunit delta-1AP-3 complex delta subunit, partial CDSadapter-related protein complex 3 subunit delta-1adaptor related protein complex 3 delta 1 subunitdelta adaptinsubunit of putative vesicle coat adaptor complex AP-3collagen alpha-1(XIX) chaina1 chain of type XIX collagencollagen XIX, alpha-1 polypeptidecollagen alpha 1 (Y) chaincollagen, type XIX, alpha 1
Modification date2018052320180527
UniProtAcc

O14617

Q14993

Ensembl transtripts involved in fusion geneENST00000355272, ENST00000356926, 
ENST00000350812, ENST00000345016, 
ENST00000590683, 
ENST00000322773, 
ENST00000393344, ENST00000476656, 
Fusion gene scores* DoF score11 X 11 X 7=8471 X 1 X 1=1
# samples 132
** MAII scorelog2(13/847*10)=-2.70385034630374
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/1*10)=4.32192809488736
Context

PubMed: AP3D1 [Title/Abstract] AND COL19A1 [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
ChiTaRS3.1AI560431AP3D1chr19

2114277

+COL19A1chr6

70733978

+
ChiTaRS3.1AI870301AP3D1chr19

2114277

+COL19A1chr6

70733978

+
* 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-intronENST00000355272ENST00000322773AP3D1chr19

2114277

+COL19A1chr6

70733978

+
intron-intronENST00000355272ENST00000393344AP3D1chr19

2114277

+COL19A1chr6

70733978

+
intron-intronENST00000355272ENST00000476656AP3D1chr19

2114277

+COL19A1chr6

70733978

+
intron-intronENST00000356926ENST00000322773AP3D1chr19

2114277

+COL19A1chr6

70733978

+
intron-intronENST00000356926ENST00000393344AP3D1chr19

2114277

+COL19A1chr6

70733978

+
intron-intronENST00000356926ENST00000476656AP3D1chr19

2114277

+COL19A1chr6

70733978

+
intron-intronENST00000350812ENST00000322773AP3D1chr19

2114277

+COL19A1chr6

70733978

+
intron-intronENST00000350812ENST00000393344AP3D1chr19

2114277

+COL19A1chr6

70733978

+
intron-intronENST00000350812ENST00000476656AP3D1chr19

2114277

+COL19A1chr6

70733978

+
intron-intronENST00000345016ENST00000322773AP3D1chr19

2114277

+COL19A1chr6

70733978

+
intron-intronENST00000345016ENST00000393344AP3D1chr19

2114277

+COL19A1chr6

70733978

+
intron-intronENST00000345016ENST00000476656AP3D1chr19

2114277

+COL19A1chr6

70733978

+
intron-intronENST00000590683ENST00000322773AP3D1chr19

2114277

+COL19A1chr6

70733978

+
intron-intronENST00000590683ENST00000393344AP3D1chr19

2114277

+COL19A1chr6

70733978

+
intron-intronENST00000590683ENST00000476656AP3D1chr19

2114277

+COL19A1chr6

70733978

+

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FusionProtFeatures for AP3D1_COL19A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AP3D1

O14617

COL19A1

Q14993

Part of the AP-3 complex, an adaptor-related complexwhich is not clathrin-associated. The complex is associated withthe Golgi region as well as more peripheral structures. Itfacilitates the budding of vesicles from the Golgi membrane andmay be directly involved in trafficking to lysosomes. Involved inprocess of CD8+ T-cell and NK cell degranulation(PubMed:26744459). In concert with the BLOC-1 complex, AP-3 isrequired to target cargos into vesicles assembled at cell bodiesfor delivery into neurites and nerve terminals (By similarity).{ECO:0000250|UniProtKB:O54774, ECO:0000269|PubMed:26744459}.

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 AP3D1_COL19A1


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 AP3D1_COL19A1


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 AP3D1_COL19A1


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 AP3D1_COL19A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource