	FusionGeneSummary
	FusionProtFeature
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	FusionGenePPI
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Fusion gene ID: 25972

FusionGeneSummary for PARD3_COL6A3

Fusion gene summary

Fusion gene information	Fusion gene name: PARD3_COL6A3
	Fusion gene ID: 25972
		Hgene	Tgene
	Gene symbol	PARD3	COL6A3
	Gene ID	56288	1293
	Gene name	par-3 family cell polarity regulator	collagen type VI alpha 3 chain
	Synonyms	ASIP\|Baz\|PAR3\|PAR3alpha\|PARD-3\|PARD3A\|PPP1R118\|SE2-5L16\|SE2-5LT1\|SE2-5T2	BTHLM1\|DYT27\|UCMD1
	Cytomap	10p11.22-p11.21	2q37.3
	Type of gene	protein-coding	protein-coding
	Description	partitioning defective 3 homologCTCL tumor antigen se2-5PAR3-alphaatypical PKC isotype-specific interacting proteinbazookapar-3 family cell polarity regulator alphapar-3 partitioning defective 3 homologprotein phosphatase 1, regulatory subunit 118	collagen alpha-3(VI) chaincollagen VI, alpha-3 polypeptidecollagen, type VI, alpha 3
	Modification date	20180523	20180523
	UniProtAcc	Q8TEW0	P12111
	Ensembl transtripts involved in fusion gene	ENST00000545260, ENST00000545693, ENST00000350537, ENST00000346874, ENST00000374789, ENST00000374790, ENST00000374794, ENST00000374788, ENST00000466092, ENST00000374776, ENST00000340077, ENST00000544292, ENST00000374773, ENST00000374768,	ENST00000347401, ENST00000353578, ENST00000295550, ENST00000472056, ENST00000409809, ENST00000346358, ENST00000392004, ENST00000392003, ENST00000473258,
Fusion gene scores	* DoF score	22 X 13 X 12=3432	8 X 8 X 2=128
	# samples	26	8
	** MAII score	log2(26/3432*10)=-3.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(8/128*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: PARD3 [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)

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			BE840726	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+

* 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
intron-3UTR	ENST00000545260	ENST00000347401	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000545260	ENST00000353578	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000545260	ENST00000295550	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000545260	ENST00000472056	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000545260	ENST00000409809	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000545260	ENST00000346358	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000545260	ENST00000392004	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000545260	ENST00000392003	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-5UTR	ENST00000545260	ENST00000473258	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000545693	ENST00000347401	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000545693	ENST00000353578	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000545693	ENST00000295550	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000545693	ENST00000472056	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000545693	ENST00000409809	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000545693	ENST00000346358	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000545693	ENST00000392004	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000545693	ENST00000392003	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-5UTR	ENST00000545693	ENST00000473258	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000350537	ENST00000347401	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000350537	ENST00000353578	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000350537	ENST00000295550	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000350537	ENST00000472056	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000350537	ENST00000409809	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000350537	ENST00000346358	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000350537	ENST00000392004	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000350537	ENST00000392003	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-5UTR	ENST00000350537	ENST00000473258	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000346874	ENST00000347401	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000346874	ENST00000353578	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000346874	ENST00000295550	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000346874	ENST00000472056	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000346874	ENST00000409809	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000346874	ENST00000346358	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000346874	ENST00000392004	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000346874	ENST00000392003	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-5UTR	ENST00000346874	ENST00000473258	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374789	ENST00000347401	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374789	ENST00000353578	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374789	ENST00000295550	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374789	ENST00000472056	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374789	ENST00000409809	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374789	ENST00000346358	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374789	ENST00000392004	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374789	ENST00000392003	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-5UTR	ENST00000374789	ENST00000473258	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374790	ENST00000347401	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374790	ENST00000353578	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374790	ENST00000295550	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374790	ENST00000472056	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374790	ENST00000409809	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374790	ENST00000346358	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374790	ENST00000392004	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374790	ENST00000392003	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-5UTR	ENST00000374790	ENST00000473258	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374794	ENST00000347401	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374794	ENST00000353578	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374794	ENST00000295550	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374794	ENST00000472056	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374794	ENST00000409809	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374794	ENST00000346358	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374794	ENST00000392004	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374794	ENST00000392003	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-5UTR	ENST00000374794	ENST00000473258	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374788	ENST00000347401	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374788	ENST00000353578	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374788	ENST00000295550	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374788	ENST00000472056	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374788	ENST00000409809	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374788	ENST00000346358	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374788	ENST00000392004	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374788	ENST00000392003	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-5UTR	ENST00000374788	ENST00000473258	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000466092	ENST00000347401	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000466092	ENST00000353578	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000466092	ENST00000295550	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000466092	ENST00000472056	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000466092	ENST00000409809	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000466092	ENST00000346358	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000466092	ENST00000392004	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000466092	ENST00000392003	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-5UTR	ENST00000466092	ENST00000473258	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374776	ENST00000347401	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374776	ENST00000353578	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374776	ENST00000295550	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374776	ENST00000472056	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374776	ENST00000409809	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374776	ENST00000346358	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374776	ENST00000392004	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374776	ENST00000392003	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-5UTR	ENST00000374776	ENST00000473258	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000340077	ENST00000347401	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000340077	ENST00000353578	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000340077	ENST00000295550	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000340077	ENST00000472056	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000340077	ENST00000409809	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000340077	ENST00000346358	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000340077	ENST00000392004	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000340077	ENST00000392003	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-5UTR	ENST00000340077	ENST00000473258	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000544292	ENST00000347401	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000544292	ENST00000353578	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000544292	ENST00000295550	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000544292	ENST00000472056	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000544292	ENST00000409809	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000544292	ENST00000346358	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000544292	ENST00000392004	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000544292	ENST00000392003	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-5UTR	ENST00000544292	ENST00000473258	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374773	ENST00000347401	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374773	ENST00000353578	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374773	ENST00000295550	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374773	ENST00000472056	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374773	ENST00000409809	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374773	ENST00000346358	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374773	ENST00000392004	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374773	ENST00000392003	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-5UTR	ENST00000374773	ENST00000473258	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374768	ENST00000347401	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374768	ENST00000353578	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374768	ENST00000295550	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-3UTR	ENST00000374768	ENST00000472056	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374768	ENST00000409809	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374768	ENST00000346358	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374768	ENST00000392004	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-intron	ENST00000374768	ENST00000392003	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+
intron-5UTR	ENST00000374768	ENST00000473258	PARD3	chr10	34896477	-	COL6A3	chr2	238233127	+

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FusionProtFeatures for PARD3_COL6A3

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

Hgene	Tgene
PARD3 Q8TEW0	COL6A3 P12111

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 PARD3_COL6A3

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 PARD3_COL6A3

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 PARD3_COL6A3

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 PARD3_COL6A3

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	COL6A3	C1834674	Bethlem myopathy	4	CTD_human;ORPHANET;UNIPROT
Tgene	COL6A3	C0000786	Spontaneous abortion	1	CTD_human
Tgene	COL6A3	C0410179	Scleroatonic muscular dystrophy	1	CTD_human;ORPHANET;UNIPROT
Tgene	COL6A3	C4225336	DYSTONIA 27	1	ORPHANET;UNIPROT

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Fusion gene ID: 25972

FusionGeneSummary for PARD3_COL6A3

FusionProtFeatures for PARD3_COL6A3

FusionGeneSequence for PARD3_COL6A3

FusionGenePPI for PARD3_COL6A3

RelatedDrugs for PARD3_COL6A3

RelatedDiseases for PARD3_COL6A3