	FusionGeneSummary
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	FusionGenePPI
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Fusion gene ID: 33644

FusionGeneSummary for SH3D19_KIAA1217

Fusion gene summary

Fusion gene information	Fusion gene name: SH3D19_KIAA1217
	Fusion gene ID: 33644
		Hgene	Tgene
	Gene symbol	SH3D19	KIAA1217
	Gene ID	152503	56243
	Gene name	SH3 domain containing 19	KIAA1217
	Synonyms	EBP\|EVE1\|Eve-1\|Kryn\|SH3P19	ETL4\|SKT
	Cytomap	4q31.3	10p12.2-p12.1
	Type of gene	protein-coding	protein-coding
	Description	SH3 domain-containing protein 19ADAM-binding protein Eve-1EEN-binding proteinSH3 domain protein D19	sickle tail protein homologlikely orthologue of Mus musculus enhancer trap locus 4
	Modification date	20180522	20180519
	UniProtAcc	Q5HYK7	Q5T5P2
	Ensembl transtripts involved in fusion gene	ENST00000409598, ENST00000424281, ENST00000304527, ENST00000455740, ENST00000409252, ENST00000514152, ENST00000427414, ENST00000604030,	ENST00000376462, ENST00000481700, ENST00000458595, ENST00000376454, ENST00000376452, ENST00000430453, ENST00000307544, ENST00000396446, ENST00000396445, ENST00000376451,
Fusion gene scores	* DoF score	4 X 3 X 3=36	6 X 6 X 3=108
	# samples	4	6
	** MAII score	log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: SH3D19 [Title/Abstract] AND KIAA1217 [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			AW813939	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+

* 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-intron	ENST00000409598	ENST00000376462	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409598	ENST00000481700	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409598	ENST00000458595	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409598	ENST00000376454	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409598	ENST00000376452	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409598	ENST00000430453	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409598	ENST00000307544	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409598	ENST00000396446	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409598	ENST00000396445	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409598	ENST00000376451	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000424281	ENST00000376462	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000424281	ENST00000481700	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000424281	ENST00000458595	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000424281	ENST00000376454	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000424281	ENST00000376452	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000424281	ENST00000430453	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000424281	ENST00000307544	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000424281	ENST00000396446	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000424281	ENST00000396445	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000424281	ENST00000376451	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000304527	ENST00000376462	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000304527	ENST00000481700	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000304527	ENST00000458595	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000304527	ENST00000376454	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000304527	ENST00000376452	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000304527	ENST00000430453	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000304527	ENST00000307544	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000304527	ENST00000396446	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000304527	ENST00000396445	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000304527	ENST00000376451	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000455740	ENST00000376462	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000455740	ENST00000481700	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000455740	ENST00000458595	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000455740	ENST00000376454	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000455740	ENST00000376452	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000455740	ENST00000430453	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000455740	ENST00000307544	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000455740	ENST00000396446	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000455740	ENST00000396445	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000455740	ENST00000376451	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409252	ENST00000376462	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409252	ENST00000481700	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409252	ENST00000458595	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409252	ENST00000376454	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409252	ENST00000376452	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409252	ENST00000430453	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409252	ENST00000307544	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409252	ENST00000396446	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409252	ENST00000396445	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000409252	ENST00000376451	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000514152	ENST00000376462	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000514152	ENST00000481700	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000514152	ENST00000458595	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000514152	ENST00000376454	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000514152	ENST00000376452	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000514152	ENST00000430453	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000514152	ENST00000307544	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000514152	ENST00000396446	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000514152	ENST00000396445	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000514152	ENST00000376451	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000427414	ENST00000376462	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000427414	ENST00000481700	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000427414	ENST00000458595	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000427414	ENST00000376454	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000427414	ENST00000376452	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000427414	ENST00000430453	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000427414	ENST00000307544	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000427414	ENST00000396446	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000427414	ENST00000396445	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000427414	ENST00000376451	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000604030	ENST00000376462	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000604030	ENST00000481700	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000604030	ENST00000458595	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000604030	ENST00000376454	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000604030	ENST00000376452	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000604030	ENST00000430453	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000604030	ENST00000307544	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000604030	ENST00000396446	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000604030	ENST00000396445	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+
intron-intron	ENST00000604030	ENST00000376451	SH3D19	chr4	152042211	-	KIAA1217	chr10	24553139	+

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FusionProtFeatures for SH3D19_KIAA1217

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

Hgene	Tgene
SH3D19 Q5HYK7	KIAA1217 Q5T5P2
May play a role in regulating A disintegrin andmetalloproteases (ADAMs) in the signaling of EGFR-ligand shedding.May be involved in suppression of Ras-induced cellulartransformation and Ras-mediated activation of ELK1. Plays a rolein the regulation of cell morphology and cytoskeletalorganization. {ECO:0000269\|PubMed:14551139,ECO:0000269\|PubMed:15280379, ECO:0000269\|PubMed:21834987}.

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 SH3D19_KIAA1217

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 SH3D19_KIAA1217

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 SH3D19_KIAA1217

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 SH3D19_KIAA1217

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source

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Fusion gene ID: 33644

FusionGeneSummary for SH3D19_KIAA1217

FusionProtFeatures for SH3D19_KIAA1217

FusionGeneSequence for SH3D19_KIAA1217

FusionGenePPI for SH3D19_KIAA1217

RelatedDrugs for SH3D19_KIAA1217

RelatedDiseases for SH3D19_KIAA1217