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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: 33644

FusionGeneSummary for SH3D19_KIAA1217

check button Fusion gene summary
Fusion gene informationFusion gene name: SH3D19_KIAA1217
Fusion gene ID: 33644
HgeneTgene
Gene symbol

SH3D19

KIAA1217

Gene ID

152503

56243

Gene nameSH3 domain containing 19KIAA1217
SynonymsEBP|EVE1|Eve-1|Kryn|SH3P19ETL4|SKT
Cytomap

4q31.3

10p12.2-p12.1

Type of geneprotein-codingprotein-coding
DescriptionSH3 domain-containing protein 19ADAM-binding protein Eve-1EEN-binding proteinSH3 domain protein D19sickle tail protein homologlikely orthologue of Mus musculus enhancer trap locus 4
Modification date2018052220180519
UniProtAcc

Q5HYK7

Q5T5P2

Ensembl transtripts involved in fusion geneENST00000409598, ENST00000424281, 
ENST00000304527, ENST00000455740, 
ENST00000409252, ENST00000514152, 
ENST00000427414, ENST00000604030, 
ENST00000376462, ENST00000481700, 
ENST00000458595, ENST00000376454, 
ENST00000376452, ENST00000430453, 
ENST00000307544, ENST00000396446, 
ENST00000396445, ENST00000376451, 
Fusion gene scores* DoF score4 X 3 X 3=366 X 6 X 3=108
# samples 46
** MAII scorelog2(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)

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
ChiTaRS3.1AW813939SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
* 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-intronENST00000409598ENST00000376462SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409598ENST00000481700SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409598ENST00000458595SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409598ENST00000376454SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409598ENST00000376452SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409598ENST00000430453SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409598ENST00000307544SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409598ENST00000396446SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409598ENST00000396445SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409598ENST00000376451SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000424281ENST00000376462SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000424281ENST00000481700SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000424281ENST00000458595SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000424281ENST00000376454SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000424281ENST00000376452SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000424281ENST00000430453SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000424281ENST00000307544SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000424281ENST00000396446SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000424281ENST00000396445SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000424281ENST00000376451SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000304527ENST00000376462SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000304527ENST00000481700SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000304527ENST00000458595SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000304527ENST00000376454SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000304527ENST00000376452SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000304527ENST00000430453SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000304527ENST00000307544SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000304527ENST00000396446SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000304527ENST00000396445SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000304527ENST00000376451SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000455740ENST00000376462SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000455740ENST00000481700SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000455740ENST00000458595SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000455740ENST00000376454SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000455740ENST00000376452SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000455740ENST00000430453SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000455740ENST00000307544SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000455740ENST00000396446SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000455740ENST00000396445SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000455740ENST00000376451SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409252ENST00000376462SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409252ENST00000481700SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409252ENST00000458595SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409252ENST00000376454SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409252ENST00000376452SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409252ENST00000430453SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409252ENST00000307544SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409252ENST00000396446SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409252ENST00000396445SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000409252ENST00000376451SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000514152ENST00000376462SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000514152ENST00000481700SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000514152ENST00000458595SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000514152ENST00000376454SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000514152ENST00000376452SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000514152ENST00000430453SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000514152ENST00000307544SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000514152ENST00000396446SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000514152ENST00000396445SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000514152ENST00000376451SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000427414ENST00000376462SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000427414ENST00000481700SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000427414ENST00000458595SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000427414ENST00000376454SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000427414ENST00000376452SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000427414ENST00000430453SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000427414ENST00000307544SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000427414ENST00000396446SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000427414ENST00000396445SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000427414ENST00000376451SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000604030ENST00000376462SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000604030ENST00000481700SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000604030ENST00000458595SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000604030ENST00000376454SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000604030ENST00000376452SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000604030ENST00000430453SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000604030ENST00000307544SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000604030ENST00000396446SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000604030ENST00000396445SH3D19chr4

152042211

-KIAA1217chr10

24553139

+
intron-intronENST00000604030ENST00000376451SH3D19chr4

152042211

-KIAA1217chr10

24553139

+

Top

FusionProtFeatures for SH3D19_KIAA1217


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

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 SH3D19_KIAA1217


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).

Top

FusionGenePPI for SH3D19_KIAA1217


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


Top

RelatedDrugs for SH3D19_KIAA1217


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for SH3D19_KIAA1217


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