Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:BLCAP-SRC (FusionGDB2 ID:HG10904TG6714)

Fusion Gene Summary for BLCAP-SRC

check button Fusion gene summary
Fusion gene informationFusion gene name: BLCAP-SRC
Fusion gene ID: hg10904tg6714
HgeneTgene
Gene symbol

BLCAP

SRC

Gene ID

10904

6714

Gene nameBLCAP apoptosis inducing factorSRC proto-oncogene, non-receptor tyrosine kinase
SynonymsBC10ASV|SRC1|THC6|c-SRC|p60-Src
Cytomap('BLCAP')('SRC')

20q11.23

20q11.23

Type of geneprotein-codingprotein-coding
Descriptionbladder cancer-associated proteinbladder cancer associated proteinbladder cancer related protein (10kD)proto-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 homolog
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000373537, ENST00000414542, 
ENST00000397131, ENST00000397134, 
ENST00000397135, ENST00000397137, 
ENST00000411780, 
Fusion gene scores* DoF score12 X 8 X 5=4809 X 7 X 5=315
# samples 128
** MAII scorelog2(12/480*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/315*10)=-1.97727992349992
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointBLCAP(36156195)-SRC(35993607), # samples:1
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
HgeneBLCAP

GO:0030262

apoptotic nuclear changes

17031575

TgeneSRC

GO:0018108

peptidyl-tyrosine phosphorylation

12051764|22732588

TgeneSRC

GO:0035306

positive regulation of dephosphorylation

23159740

TgeneSRC

GO:0035556

intracellular signal transduction

15248232

TgeneSRC

GO:0046777

protein autophosphorylation

16441665

TgeneSRC

GO:0071902

positive regulation of protein serine/threonine kinase activity

19059439



check button Fusion gene information
* 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-BR-8059-01ABLCAPchr20

36156195

-SRCchr20

35993607

+


Top

Fusion Gene ORF analysis for BLCAP-SRC

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
5UTR-5UTRENST00000373537ENST00000373578BLCAPchr20

36156195

-SRCchr20

35993607

+
5UTR-5UTRENST00000414542ENST00000373578BLCAPchr20

36156195

-SRCchr20

35993607

+
5UTR-intronENST00000373537ENST00000358208BLCAPchr20

36156195

-SRCchr20

35993607

+
5UTR-intronENST00000373537ENST00000360723BLCAPchr20

36156195

-SRCchr20

35993607

+
5UTR-intronENST00000373537ENST00000373558BLCAPchr20

36156195

-SRCchr20

35993607

+
5UTR-intronENST00000373537ENST00000373567BLCAPchr20

36156195

-SRCchr20

35993607

+
5UTR-intronENST00000373537ENST00000445403BLCAPchr20

36156195

-SRCchr20

35993607

+
5UTR-intronENST00000373537ENST00000477066BLCAPchr20

36156195

-SRCchr20

35993607

+
5UTR-intronENST00000414542ENST00000358208BLCAPchr20

36156195

-SRCchr20

35993607

+
5UTR-intronENST00000414542ENST00000360723BLCAPchr20

36156195

-SRCchr20

35993607

+
5UTR-intronENST00000414542ENST00000373558BLCAPchr20

36156195

-SRCchr20

35993607

+
5UTR-intronENST00000414542ENST00000373567BLCAPchr20

36156195

-SRCchr20

35993607

+
5UTR-intronENST00000414542ENST00000445403BLCAPchr20

36156195

-SRCchr20

35993607

+
5UTR-intronENST00000414542ENST00000477066BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-5UTRENST00000397131ENST00000373578BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-5UTRENST00000397134ENST00000373578BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-5UTRENST00000397135ENST00000373578BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-5UTRENST00000397137ENST00000373578BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-5UTRENST00000411780ENST00000373578BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397131ENST00000358208BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397131ENST00000360723BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397131ENST00000373558BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397131ENST00000373567BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397131ENST00000445403BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397131ENST00000477066BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397134ENST00000358208BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397134ENST00000360723BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397134ENST00000373558BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397134ENST00000373567BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397134ENST00000445403BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397134ENST00000477066BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397135ENST00000358208BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397135ENST00000360723BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397135ENST00000373558BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397135ENST00000373567BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397135ENST00000445403BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397135ENST00000477066BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397137ENST00000358208BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397137ENST00000360723BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397137ENST00000373558BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397137ENST00000373567BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397137ENST00000445403BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000397137ENST00000477066BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000411780ENST00000358208BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000411780ENST00000360723BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000411780ENST00000373558BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000411780ENST00000373567BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000411780ENST00000445403BLCAPchr20

36156195

-SRCchr20

35993607

+
intron-intronENST00000411780ENST00000477066BLCAPchr20

36156195

-SRCchr20

35993607

+

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

Top

Fusion Genomic Features for BLCAP-SRC


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)
BLCAPchr2036156194-SRCchr2035993606+0.0173918570.98260814
BLCAPchr2036156194-SRCchr2035993606+0.0173918570.98260814


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.
genomic feature of top 1%

Top

Fusion Protein Features for BLCAP-SRC


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:36156195/:35993607)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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


Top

Fusion Gene Sequence for BLCAP-SRC


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.

Top

Fusion Gene PPI Analysis for BLCAP-SRC


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

Related Drugs for BLCAP-SRC


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

Top

Related Diseases for BLCAP-SRC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0005684Malignant neoplasm of urinary bladder2CTD_human
TgeneC0005695Bladder Neoplasm2CTD_human
TgeneC0027626Neoplasm Invasiveness2CTD_human
TgeneC0005818Blood Platelet Disorders1GENOMICS_ENGLAND
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007102Malignant tumor of colon1CTD_human
TgeneC0009319Colitis1CTD_human
TgeneC0009375Colonic Neoplasms1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0038220Status Epilepticus1CTD_human
TgeneC0085548Autosomal Recessive Polycystic Kidney Disease1CTD_human
TgeneC0270823Petit mal status1CTD_human
TgeneC0311335Grand Mal Status Epilepticus1CTD_human
TgeneC0393734Complex Partial Status Epilepticus1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0751522Status Epilepticus, Subclinical1CTD_human
TgeneC0751523Non-Convulsive Status Epilepticus1CTD_human
TgeneC0751524Simple Partial Status Epilepticus1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC4310789THROMBOCYTOPENIA 61CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC4704874Mammary Carcinoma, Human1CTD_human