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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:SRC-PTPRT (FusionGDB2 ID:85645)

Fusion Gene Summary for SRC-PTPRT

check button Fusion gene summary
Fusion gene informationFusion gene name: SRC-PTPRT
Fusion gene ID: 85645
HgeneTgene
Gene symbol

SRC

PTPRT

Gene ID

6714

11122

Gene nameSRC proto-oncogene, non-receptor tyrosine kinaseprotein tyrosine phosphatase receptor type T
SynonymsASV|SRC1|THC6|c-SRC|p60-SrcRPTPrho
Cytomap

20q11.23

20q12-q13.11

Type of geneprotein-codingprotein-coding
Descriptionproto-oncogene tyrosine-protein kinase Srcproto-oncogene c-Srcprotooncogene SRC, Rous sarcomatyrosine kinase pp60c-srctyrosine-protein kinase SRC-1v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homologreceptor-type tyrosine-protein phosphatase TR-PTP-TRPTP-rhoreceptor protein tyrosine phosphatasereceptor-type tyrosine-protein phosphatase rho
Modification date2020032720200313
UniProtAcc

SKAP2

.
Ensembl transtripts involved in fusion geneENST00000445403, ENST00000373578, 
ENST00000360723, ENST00000358208, 
ENST00000373567, ENST00000373558, 
ENST00000477066, 		ENST00000373184, 
ENST00000373187, ENST00000356100, 
ENST00000373190, ENST00000373193, 
ENST00000373198, ENST00000373201, 
ENST00000485499, 
Fusion gene scores* DoF score10 X 7 X 5=35025 X 24 X 7=4200
# samples 1427
** MAII scorelog2(14/350*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(27/4200*10)=-3.95935801550265
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SRC [Title/Abstract] AND PTPRT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSRC(35993680)-PTPRT(40790182), # samples:3
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneSRC

GO:0018108

peptidyl-tyrosine phosphorylation

12051764|22732588

HgeneSRC

GO:0035306

positive regulation of dephosphorylation

23159740

HgeneSRC

GO:0035556

intracellular signal transduction

15248232

HgeneSRC

GO:0046777

protein autophosphorylation

16441665

HgeneSRC

GO:0071902

positive regulation of protein serine/threonine kinase activity

19059439

TgenePTPRT

GO:0006470

protein dephosphorylation

16973135

TgenePTPRT

GO:0007156

homophilic cell adhesion via plasma membrane adhesion molecules

18644975

TgenePTPRT

GO:0035335

peptidyl-tyrosine dephosphorylation

17360477

TgenePTPRT

GO:0071354

cellular response to interleukin-6

17360477

TgenePTPRT

GO:1904893

negative regulation of STAT cascade

17360477

TgenePTPRT

GO:1990264

peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity

24846175


check buttonFusion gene breakpoints across SRC (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across PTPRT (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-VQ-A8PE-01ASRCchr20

35993680

+PTPRTchr20

40790182

-
ChimerDB4STADTCGA-VQ-A8PESRCchr20

35993680

+PTPRTchr20

40790182

-
ChimerDB4STADTCGA-VQ-A8PE-01ASRCchr20

35993680

+PTPRTchr20

40790182

-
ChimerDB4STADTCGA-VQ-A8PE-01ASRCchr20

35993680

+PTPRTchr20

40790179

-


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Fusion Gene ORF analysis for SRC-PTPRT

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-3CDSENST00000445403ENST00000373184SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000445403ENST00000373187SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000445403ENST00000356100SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000445403ENST00000373190SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000445403ENST00000373193SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000445403ENST00000373198SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000445403ENST00000373201SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-intronENST00000445403ENST00000485499SRCchr20

35993680

+PTPRTchr20

40790182

-
5UTR-3CDSENST00000373578ENST00000373184SRCchr20

35993680

+PTPRTchr20

40790182

-
5UTR-3CDSENST00000373578ENST00000373187SRCchr20

35993680

+PTPRTchr20

40790182

-
5UTR-3CDSENST00000373578ENST00000356100SRCchr20

35993680

+PTPRTchr20

40790182

-
5UTR-3CDSENST00000373578ENST00000373190SRCchr20

35993680

+PTPRTchr20

40790182

-
5UTR-3CDSENST00000373578ENST00000373193SRCchr20

35993680

+PTPRTchr20

40790182

-
5UTR-3CDSENST00000373578ENST00000373198SRCchr20

35993680

+PTPRTchr20

40790182

-
5UTR-3CDSENST00000373578ENST00000373201SRCchr20

35993680

+PTPRTchr20

40790182

-
5UTR-intronENST00000373578ENST00000485499SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000360723ENST00000373184SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000360723ENST00000373187SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000360723ENST00000356100SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000360723ENST00000373190SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000360723ENST00000373193SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000360723ENST00000373198SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000360723ENST00000373201SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-intronENST00000360723ENST00000485499SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000358208ENST00000373184SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000358208ENST00000373187SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000358208ENST00000356100SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000358208ENST00000373190SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000358208ENST00000373193SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000358208ENST00000373198SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000358208ENST00000373201SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-intronENST00000358208ENST00000485499SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000373567ENST00000373184SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000373567ENST00000373187SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000373567ENST00000356100SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000373567ENST00000373190SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000373567ENST00000373193SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000373567ENST00000373198SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000373567ENST00000373201SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-intronENST00000373567ENST00000485499SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000373558ENST00000373184SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000373558ENST00000373187SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000373558ENST00000356100SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000373558ENST00000373190SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000373558ENST00000373193SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000373558ENST00000373198SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000373558ENST00000373201SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-intronENST00000373558ENST00000485499SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000477066ENST00000373184SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000477066ENST00000373187SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000477066ENST00000356100SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000477066ENST00000373190SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000477066ENST00000373193SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000477066ENST00000373198SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000477066ENST00000373201SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-intronENST00000477066ENST00000485499SRCchr20

35993680

+PTPRTchr20

40790182

-
intron-3CDSENST00000445403ENST00000373184SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000445403ENST00000373187SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000445403ENST00000356100SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000445403ENST00000373190SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000445403ENST00000373193SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000445403ENST00000373198SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000445403ENST00000373201SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-intronENST00000445403ENST00000485499SRCchr20

35993680

+PTPRTchr20

40790179

-
5UTR-3CDSENST00000373578ENST00000373184SRCchr20

35993680

+PTPRTchr20

40790179

-
5UTR-3CDSENST00000373578ENST00000373187SRCchr20

35993680

+PTPRTchr20

40790179

-
5UTR-3CDSENST00000373578ENST00000356100SRCchr20

35993680

+PTPRTchr20

40790179

-
5UTR-3CDSENST00000373578ENST00000373190SRCchr20

35993680

+PTPRTchr20

40790179

-
5UTR-3CDSENST00000373578ENST00000373193SRCchr20

35993680

+PTPRTchr20

40790179

-
5UTR-3CDSENST00000373578ENST00000373198SRCchr20

35993680

+PTPRTchr20

40790179

-
5UTR-3CDSENST00000373578ENST00000373201SRCchr20

35993680

+PTPRTchr20

40790179

-
5UTR-intronENST00000373578ENST00000485499SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000360723ENST00000373184SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000360723ENST00000373187SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000360723ENST00000356100SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000360723ENST00000373190SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000360723ENST00000373193SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000360723ENST00000373198SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000360723ENST00000373201SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-intronENST00000360723ENST00000485499SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000358208ENST00000373184SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000358208ENST00000373187SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000358208ENST00000356100SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000358208ENST00000373190SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000358208ENST00000373193SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000358208ENST00000373198SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000358208ENST00000373201SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-intronENST00000358208ENST00000485499SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000373567ENST00000373184SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000373567ENST00000373187SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000373567ENST00000356100SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000373567ENST00000373190SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000373567ENST00000373193SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000373567ENST00000373198SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000373567ENST00000373201SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-intronENST00000373567ENST00000485499SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000373558ENST00000373184SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000373558ENST00000373187SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000373558ENST00000356100SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000373558ENST00000373190SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000373558ENST00000373193SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000373558ENST00000373198SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000373558ENST00000373201SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-intronENST00000373558ENST00000485499SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000477066ENST00000373184SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000477066ENST00000373187SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000477066ENST00000356100SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000477066ENST00000373190SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000477066ENST00000373193SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000477066ENST00000373198SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-3CDSENST00000477066ENST00000373201SRCchr20

35993680

+PTPRTchr20

40790179

-
intron-intronENST00000477066ENST00000485499SRCchr20

35993680

+PTPRTchr20

40790179

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for SRC-PTPRT


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for SRC-PTPRT


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

SKAP2

.
359FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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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Fusion Gene Sequence for SRC-PTPRT


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for SRC-PTPRT


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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Related Drugs for SRC-PTPRT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for SRC-PTPRT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSRCC0005684Malignant neoplasm of urinary bladder2CTD_human
HgeneSRCC0005695Bladder Neoplasm2CTD_human
HgeneSRCC0027626Neoplasm Invasiveness2CTD_human
HgeneSRCC0005818Blood Platelet Disorders1GENOMICS_ENGLAND
HgeneSRCC0006142Malignant neoplasm of breast1CTD_human
HgeneSRCC0007102Malignant tumor of colon1CTD_human
HgeneSRCC0009319Colitis1CTD_human
HgeneSRCC0009375Colonic Neoplasms1CTD_human
HgeneSRCC0018800Cardiomegaly1CTD_human
HgeneSRCC0038220Status Epilepticus1CTD_human
HgeneSRCC0085548Autosomal Recessive Polycystic Kidney Disease1CTD_human
HgeneSRCC0270823Petit mal status1CTD_human
HgeneSRCC0311335Grand Mal Status Epilepticus1CTD_human
HgeneSRCC0393734Complex Partial Status Epilepticus1CTD_human
HgeneSRCC0678222Breast Carcinoma1CTD_human
HgeneSRCC0751522Status Epilepticus, Subclinical1CTD_human
HgeneSRCC0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneSRCC0751524Simple Partial Status Epilepticus1CTD_human
HgeneSRCC1257931Mammary Neoplasms, Human1CTD_human
HgeneSRCC1383860Cardiac Hypertrophy1CTD_human
HgeneSRCC1458155Mammary Neoplasms1CTD_human
HgeneSRCC4310789THROMBOCYTOPENIA 61CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneSRCC4704874Mammary Carcinoma, Human1CTD_human