	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 3438

FusionGeneSummary for ATP6V0A1_OSBPL3

Fusion gene summary

Fusion gene information	Fusion gene name: ATP6V0A1_OSBPL3
	Fusion gene ID: 3438
		Hgene	Tgene
	Gene symbol	ATP6V0A1	OSBPL3
	Gene ID	535	26031
	Gene name	ATPase H+ transporting V0 subunit a1	oxysterol binding protein like 3
	Synonyms	ATP6N1\|ATP6N1A\|Stv1\|VPP1\|Vph1\|a1	ORP-3\|ORP3\|OSBP3
	Cytomap	17q21.2	7p15.3
	Type of gene	protein-coding	protein-coding
	Description	V-type proton ATPase 116 kDa subunit a isoform 1V-type proton ATPase 116 kDa subunit aATPase, H+ transporting, lysosomal V0 subunit a1ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD)H(+)-transporting two-sector ATPase,	oxysterol-binding protein-related protein 3OSBP-related protein 3
	Modification date	20180523	20180523
	UniProtAcc	Q93050	Q9H4L5
	Ensembl transtripts involved in fusion gene	ENST00000393829, ENST00000546249, ENST00000537728, ENST00000264649, ENST00000585525, ENST00000343619, ENST00000544137, ENST00000587797,	ENST00000313367, ENST00000431825, ENST00000352860, ENST00000353930, ENST00000396431, ENST00000409069, ENST00000396429, ENST00000487020,
Fusion gene scores	* DoF score	14 X 13 X 7=1274	5 X 5 X 4=100
	# samples	14	5
	** MAII score	log2(14/1274*10)=-3.18586654531133 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ATP6V0A1 [Title/Abstract] AND OSBPL3 [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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner

Gene

GO ID

GO term

PubMed ID

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS3.1			BQ325193	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-intron	ENST00000393829	ENST00000313367	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000393829	ENST00000431825	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000393829	ENST00000352860	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000393829	ENST00000353930	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000393829	ENST00000396431	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000393829	ENST00000409069	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000393829	ENST00000396429	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000393829	ENST00000487020	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000546249	ENST00000313367	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000546249	ENST00000431825	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000546249	ENST00000352860	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000546249	ENST00000353930	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000546249	ENST00000396431	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000546249	ENST00000409069	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000546249	ENST00000396429	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000546249	ENST00000487020	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000537728	ENST00000313367	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000537728	ENST00000431825	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000537728	ENST00000352860	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000537728	ENST00000353930	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000537728	ENST00000396431	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000537728	ENST00000409069	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000537728	ENST00000396429	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000537728	ENST00000487020	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000264649	ENST00000313367	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000264649	ENST00000431825	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000264649	ENST00000352860	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000264649	ENST00000353930	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000264649	ENST00000396431	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000264649	ENST00000409069	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000264649	ENST00000396429	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000264649	ENST00000487020	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000585525	ENST00000313367	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000585525	ENST00000431825	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000585525	ENST00000352860	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000585525	ENST00000353930	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000585525	ENST00000396431	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000585525	ENST00000409069	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000585525	ENST00000396429	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000585525	ENST00000487020	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000343619	ENST00000313367	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000343619	ENST00000431825	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000343619	ENST00000352860	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000343619	ENST00000353930	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000343619	ENST00000396431	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000343619	ENST00000409069	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000343619	ENST00000396429	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000343619	ENST00000487020	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000544137	ENST00000313367	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000544137	ENST00000431825	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000544137	ENST00000352860	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000544137	ENST00000353930	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000544137	ENST00000396431	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000544137	ENST00000409069	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000544137	ENST00000396429	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
5CDS-intron	ENST00000544137	ENST00000487020	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
intron-intron	ENST00000587797	ENST00000313367	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
intron-intron	ENST00000587797	ENST00000431825	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
intron-intron	ENST00000587797	ENST00000352860	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
intron-intron	ENST00000587797	ENST00000353930	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
intron-intron	ENST00000587797	ENST00000396431	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
intron-intron	ENST00000587797	ENST00000409069	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
intron-intron	ENST00000587797	ENST00000396429	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+
intron-intron	ENST00000587797	ENST00000487020	ATP6V0A1	chr17	40652824	+	OSBPL3	chr7	24930184	+

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FusionProtFeatures for ATP6V0A1_OSBPL3

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
ATP6V0A1 Q93050	OSBPL3 Q9H4L5
Required for assembly and activity of the vacuolarATPase. Potential role in differential targeting and regulation ofthe enzyme for a specific organelle (By similarity).{ECO:0000250}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for ATP6V0A1_OSBPL3

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 ATP6V0A1_OSBPL3

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for ATP6V0A1_OSBPL3

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for ATP6V0A1_OSBPL3

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source

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Fusion gene ID: 3438

FusionGeneSummary for ATP6V0A1_OSBPL3

FusionProtFeatures for ATP6V0A1_OSBPL3

FusionGeneSequence for ATP6V0A1_OSBPL3

FusionGenePPI for ATP6V0A1_OSBPL3

RelatedDrugs for ATP6V0A1_OSBPL3

RelatedDiseases for ATP6V0A1_OSBPL3